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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: 17-Hydroxysteroid Dehydrogenase Deficiency (C537805)
Parent Node: Diseases (C)
Parent Node: Gonadal dysgenesis XX type deafness (C537286)
Parent Node: Lipid Metabolism Disorders (D052439)
..Starting node ..D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Child Nodes:
Sister Nodes:
..D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
..Dyslipidemias (D050171) 57
..Lipid Metabolism, Inborn Errors (D008052) 135 C:9
..Lipidoses (D008064) 71
..Lipodystrophy (D008060) 12
..Lipomatosis (D008068) 11
..Xanthomatosis (D014973) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

3296

Name:

D-BIFUNCTIONAL PROTEIN DEFICIENCY

Definition:

Alternative IDs:

DO:DOID:0090031

ParentIDs:

MESH:C537286|MESH:C537805|MESH:D052439

TreeNumbers:

C09.218.458.341.887/C537286/261515 |C10.597.751.418.341.887/C537286/261515 |C12.706.316.064.249/C537286/261515 |C12.706.316.096/C537805/261515 |C12.706.316.309.193/C537286/261515 |C13.351.875.253.064.249/C537286/261515 |C13.351.875.253.096/C537805/261515 |C13.3

Synonyms:

17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY |DBP DEFICIENCY |PBFE DEFICIENCY |PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY

Slim Mappings:

Reference:

MedGen: 261515
MeSH: 261515
OMIM: 261515;
MSeqDR :
Genes: CAPN10; HSD17B4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001999	Abnormal facial shape
4	HP:0007360	Aplasia/Hypoplasia of the cerebellum
5	HP:0001408	Bile duct proliferation
6	HP:0002832	Calcific stippling
7	HP:0007266	Cerebral dysmyelination
8	HP:0006872	Cerebral hypoplasia	HP:0040284
9	HP:0001396	Cholestasis
10	HP:0007371	Corpus callosum atrophy
11	HP:0002539	Cortical dysplasia
12	HP:0003199	Decreased muscle mass
13	HP:0000762	Decreased nerve conduction velocity	HP:0040284
14	HP:0000270	Delayed cranial suture closure
15	HP:0002750	Delayed skeletal maturation
16	HP:0005280	Depressed nasal bridge
17	HP:0000268	Dolichocephaly
18	HP:0002910	Elevated hepatic transaminases
19	HP:0000286	Epicanthus
20	HP:0001508	Failure to thrive
21	HP:0008872	Feeding difficulties in infancy
22	HP:0001791	Fetal ascites
23	HP:0002007	Frontal bossing
24	HP:0007058	Generalized cerebral atrophy/hypoplasia
25	HP:0002171	Gliosis
26	HP:0001263	Global developmental delay NAMDC: Mental retardation
27	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
28	HP:0001765	Hammertoe
29	HP:0001397	Hepatic steatosis NAMDC: Hepatopathy with steatosis or oncocytic changes by liver biopsy
30	HP:0002240	Hepatomegaly
31	HP:0000348	High forehead
32	HP:0000218	High palate
33	HP:0000316	Hypertelorism
34	HP:0002079	Hypoplasia of the corpus callosum
35	HP:0000239	Large fontanelles
36	HP:0000343	Long philtrum
37	HP:0000369	Low-set ears
38	HP:0000256	Macrocephaly
39	HP:0000347	Micrognathia
40	HP:0001319	Neonatal hypotonia NAMDC: Floppy baby
41	HP:0000639	Nystagmus
42	HP:0000938	Osteopenia
43	HP:0000767	Pectus excavatum
44	HP:0001561	Polyhydramnios
45	HP:0002126	Polymicrogyria
46	HP:0008207	Primary adrenal insufficiency
47	HP:0000107	Renal cyst
48	HP:0000278	Retrognathia
49	HP:0030799	Scaphocephaly
50	HP:0001250	Seizures NAMDC: Seizures
51	HP:0001171	Split hand
52	HP:0000486	Strabismus
53	HP:0001762	Talipes equinovarus
54	HP:0005257	Thoracic hypoplasia
55	HP:0000550	Undetectable electroretinogram
56	HP:0000582	Upslanted palpebral fissure
57	HP:0002119	Ventriculomegaly
58	HP:0000505	Visual impairment
59	HP:0000572	Visual loss

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000414.3(HSD17B4):c.-130C>T	3295	HSD17B4	Uncertain significance	536737707	RCV001152001\|RCV001157482;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118788141	118788141	5:g.118788141C>T	-
NM_000414.3(HSD17B4):c.-119C>G	3295	HSD17B4	Conflicting interpretations of pathogenicity	11739468	RCV001152003\|RCV001152002;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118788152	118788152	5:g.118788152C>G	-
NM_000414.4(HSD17B4):c.-75C>G	3295	HSD17B4	Benign	26180	RCV000294626\|RCV000316794\|RCV001712335;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900	5	118788196	118788196	NC_000005.9:g.118788196C>G	ClinGen:CA10618803	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.-75C>A	3295	HSD17B4	Uncertain significance	26180	RCV001152005\|RCV001152004;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788196	118788196	5:g.118788196C>A	-
NM_000414.4(HSD17B4):c.-28C>T	3295	HSD17B4	Benign/Likely benign	34353289	RCV000281781\|RCV000371475\|RCV001718748;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900	5	118788243	118788243	NC_000005.9:g.118788243C>T	ClinGen:CA3381569	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.-27G>C	3295	HSD17B4	Benign/Likely benign	34604765	RCV000336771\|RCV000390044\|RCV001697679;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900	5	118788244	118788244	NC_000005.9:g.118788244G>C	ClinGen:CA3381571	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu)	3295	HSD17B4	Likely pathogenic	1488399880	RCV001065701;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118788271	118788271	5:g.118788271A>C	-
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile)	3295	HSD17B4	Likely pathogenic	1085307072	RCV000490425;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788273	118788273	NC_000005.9:g.118788273G>A	ClinGen:CA360861571	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.6C>T (p.Gly2=)	3295	HSD17B4	Likely benign	1417491819	RCV001487719;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118788276	118788276	118788276	-
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg)	3295	HSD17B4	Conflicting interpretations of pathogenicity	142889209	RCV000600063\|RCV001273793\|RCV001823151\|RCV002529294\|RCV002529295;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:CN517202\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MeSH:D030342,MedGen:C0950123	5	118788281	118788281	NC_000005.9:g.118788281C>G	ClinGen:CA3381583	CN169374 not specified;
NM_000414.4(HSD17B4):c.12G>A (p.Pro4=)	3295	HSD17B4	Likely benign	1754154891	RCV001439620;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788282	118788282	118788282	-
NM_000414.4(HSD17B4):c.12G>T (p.Pro4=)	3295	HSD17B4	Likely benign	1754154891	RCV002178544;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788282	118788282	118788282	-
NM_000414.4(HSD17B4):c.13C>T (p.Leu5=)	3295	HSD17B4	Likely benign	2126590496	RCV001502661;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118788283	118788283	118788283	-
NM_000414.4(HSD17B4):c.15G>A (p.Leu5=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	969042234	RCV000735013\|RCV002067175;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118788285	118788285	NC_000005.9:g.118788285G>A	-
NM_000414.4(HSD17B4):c.21C>T (p.Phe7=)	3295	HSD17B4	Likely benign	143278360	RCV001432005;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788291	118788291	118788291	-
NM_000414.4(HSD17B4):c.25_44del (p.Gly9fs)	3295	HSD17B4	Likely pathogenic	-1	RCV003469861;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788293	118788312		-
NM_000414.4(HSD17B4):c.27G>A (p.Gly9=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	370888351	RCV000596751\|RCV001445049;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118788297	118788297	5:g.118788297G>A	ClinGen:CA3381585	CN169374 not specified;
NM_000414.4(HSD17B4):c.31dup (p.Val11fs)	3295	HSD17B4	Pathogenic	-1	RCV003225657;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788298	118788299		-
NM_000414.4(HSD17B4):c.30G>A (p.Arg10=)	3295	HSD17B4	Likely benign	-1	RCV002720096;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118788300	118788300		-
NM_000414.4(HSD17B4):c.33G>T (p.Val11=)	3295	HSD17B4	Likely benign	-1	RCV003080505;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788303	118788303		-
NM_000414.4(HSD17B4):c.39G>T (p.Leu13=)	3295	HSD17B4	Likely benign	763266528	RCV001430826;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118788309	118788309	118788309	-
NM_000414.4(HSD17B4):c.44C>T (p.Thr15Ile)	3295	HSD17B4	Uncertain significance	-1	RCV002608687;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788314	118788314	NC_000005.9:g.118788314C>T	-
NM_000414.4(HSD17B4):c.45C>T (p.Thr15=)	3295	HSD17B4	Likely benign	751737033	RCV001477564;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788315	118788315	118788315	-
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	3295	HSD17B4	Conflicting interpretations of pathogenicity	137853096	RCV000008094\|RCV000415821\|RCV000688945\|RCV000779455\|RCV001197145\|RCV002512888;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Or	5	118788316	118788316	5:g.118788316G>A	ClinGen:CA118960,UniProtKB:P51659#VAR_037576,OMIM:601860.0003	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.48C>A (p.Gly16=)	3295	HSD17B4	Likely benign	-1	RCV002842874;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788318	118788318		-
NM_000414.4(HSD17B4):c.51G>T (p.Ala17=)	3295	HSD17B4	Likely benign	756529538	RCV000918995\|RCV001273794;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788321	118788321	5:g.118788321G>T	-
NM_000414.4(HSD17B4):c.53G>T (p.Gly18Val)	3295	HSD17B4	Uncertain significance	-1	RCV003322722;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788323	118788323		-
NM_000414.4(HSD17B4):c.54G>A (p.Gly18=)	3295	HSD17B4	Likely benign	769227162	RCV001451176;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788324	118788324	118788324	-
NM_000414.4(HSD17B4):c.56_58+3del	3295	HSD17B4	Likely pathogenic	1554059509	RCV000669845;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788325	118788330	5:g.118788325_118788330del	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.58+1G>C	3295	HSD17B4	Pathogenic	1260517680	RCV001216554;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118788329	118788329	5:g.118788329G>C	-
NM_000414.4(HSD17B4):c.58+1G>T	3295	HSD17B4	Pathogenic/Likely pathogenic	1260517680	RCV001959091\|RCV003464326;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788329	118788329	118788329	-
NM_000414.4(HSD17B4):c.58+7A>G	3295	HSD17B4	Likely benign	1231409834	RCV001403031;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118788335	118788335	118788335	-
NM_000414.4(HSD17B4):c.58+11_58+35del	3295	HSD17B4	Likely benign	-1	RCV003026145;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788336	118788360	NC_000005.9:g.118788339_118788363del	-
NM_000414.4(HSD17B4):c.58+10C>T	3295	HSD17B4	Likely benign	1460258638	RCV001395077;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788338	118788338	118788338	-
NM_000414.4(HSD17B4):c.58+121A>G	3295	HSD17B4	Uncertain significance	775377217	RCV000673425;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788449	118788449	5:g.118788449A>G	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.58+123G>C	3295	HSD17B4	Uncertain significance	762157656	RCV000670280;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788451	118788451	5:g.118788451G>C	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.58+127_58+129del	3295	HSD17B4	Likely benign	1394106982	RCV000666449;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788453	118788455	5:g.118788453_118788455del	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.58+189del	3295	HSD17B4	Uncertain significance	1554059560	RCV000674595;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788516	118788516	5:g.118788516_118788516del	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.58+189G>C	3295	HSD17B4	Likely benign	1554059562	RCV000666388;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118788517	118788517	5:g.118788517G>C	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.59-8T>A	3295	HSD17B4	Likely benign	2126610283	RCV001495132;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118792002	118792002	118792002	-
NM_000414.4(HSD17B4):c.59-3T>G	3295	HSD17B4	Uncertain significance	-1	RCV003073608;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118792007	118792007	NC_000005.9:g.118792007T>G	-
NM_000414.4(HSD17B4):c.59-1G>A	3295	HSD17B4	Likely pathogenic	-1	RCV003469859;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118792009	118792009		-
NM_000414.4(HSD17B4):c.61T>C (p.Leu21=)	3295	HSD17B4	Likely benign	-1	RCV002811643;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118792012	118792012		-
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)	3295	HSD17B4	Pathogenic/Likely pathogenic	765702241	RCV000411032\|RCV001861399\|RCV002523882;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MeSH:D030342,MedGen:C0950123	5	118792018	118792018	NC_000005.9:g.118792018C>T	ClinGen:CA3381653	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.67C>G (p.Arg23Gly)	3295	HSD17B4	Uncertain significance	-1	RCV003058842;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118792018	118792018	NC_000005.9:g.118792018C>G	-
NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln)	3295	HSD17B4	Uncertain significance	762613990	RCV002002307\|RCV002507677;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118792019	118792019	118792019	-
NM_000414.4(HSD17B4):c.72C>T (p.Ala24=)	3295	HSD17B4	Likely benign	2126610379	RCV001451893;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118792023	118792023	118792023	-
NM_000414.4(HSD17B4):c.75T>C (p.Tyr25=)	3295	HSD17B4	Likely benign	-1	RCV002791287;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118792026	118792026		-
NM_000414.4(HSD17B4):c.78C>T (p.Ala26=)	3295	HSD17B4	Likely benign	2126610419	RCV001397420;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118792029	118792029	118792029	-
NM_000414.4(HSD17B4):c.81G>T (p.Leu27=)	3295	HSD17B4	Likely benign	1754652365	RCV001424461;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118792032	118792032	118792032	-
NM_000414.4(HSD17B4):c.81G>A (p.Leu27=)	3295	HSD17B4	Likely benign	1754652365	RCV002183768;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118792032	118792032	118792032	-
NM_000414.4(HSD17B4):c.84T>G (p.Ala28=)	3295	HSD17B4	Likely benign	2126610452	RCV001883768;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118792035	118792035	118792035	-
NM_000414.4(HSD17B4):c.99A>G (p.Gly33=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	749165759	RCV000731189\|RCV001464214;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118792050	118792050	NC_000005.9:g.118792050A>G	-
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)	3295	HSD17B4	Conflicting interpretations of pathogenicity	587777442	RCV000125465\|RCV001092766\|RCV001810425;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118792052	118792052	NC_000005.9:g.118792052C>T	ClinGen:CA163180,OMIM:601860.0010	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.102G>A (p.Ala34=)	3295	HSD17B4	Likely benign	778708979	RCV000670516\|RCV001448029;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118792053	118792053	5:g.118792053G>A	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile)	3295	HSD17B4	Conflicting interpretations of pathogenicity	747214551	RCV000614923\|RCV000734981\|RCV001273974\|RCV002529309;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118792060	118792060	NC_000005.9:g.118792060G>A	ClinGen:CA3381664	CN169374 not specified;
NM_000414.4(HSD17B4):c.112+8G>A	3295	HSD17B4	Conflicting interpretations of pathogenicity	770343200	RCV000591343\|RCV001489316;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118792071	118792071	5:g.118792071G>A	ClinGen:CA3381668	CN169374 not specified;
NM_000414.4(HSD17B4):c.112+11G>A	3295	HSD17B4	Uncertain significance	775970480	RCV001153266\|RCV001153265;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118792074	118792074	5:g.118792074G>A	-
NM_000414.4(HSD17B4):c.113-2206T>C	3295	HSD17B4	Likely benign	541081959	RCV000668627;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118807397	118807397	5:g.118807397T>C	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NC_000005.9:g.(?_118809583)_(118877689_?)dup	3295	HSD17B4	Uncertain significance	-1	RCV003111185;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809583	118877689		-
NM_000414.4(HSD17B4):c.113-9G>A	3295	HSD17B4	Likely benign	2126682408	RCV002215693;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809594	118809594	118809594	-
NM_000414.4(HSD17B4):c.113-7A>G	3295	HSD17B4	Likely benign	1306804490	RCV001451001;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809596	118809596	118809596	-
NM_000414.4(HSD17B4):c.113-1G>T	3295	HSD17B4	Likely pathogenic	1224475289	RCV000664953;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809602	118809602	5:g.118809602G>T	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.117T>C (p.Asn39=)	3295	HSD17B4	Likely benign	1748302967	RCV002195791;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809607	118809607	118809607	-
NM_000414.4(HSD17B4):c.118G>T (p.Asp40Tyr)	3295	HSD17B4	Uncertain significance	34959311	RCV002027809;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809608	118809608	118809608	-
NM_000414.4(HSD17B4):c.129G>A (p.Gly43=)	3295	HSD17B4	Likely benign	2126682524	RCV002177338;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809619	118809619	118809619	-
NM_000414.4(HSD17B4):c.131A>T (p.Asp44Val)	3295	HSD17B4	Uncertain significance	200063597	RCV001882203;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809621	118809621	118809621	-
NM_000414.4(HSD17B4):c.145_220+63del	3295	HSD17B4	Pathogenic	-1	RCV000008097;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809635	118809773	118809634	OMIM:601860.0006
NM_000414.4(HSD17B4):c.147T>C (p.Gly49=)	3295	HSD17B4	Likely benign	-1	RCV003042065;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809637	118809637		-
NM_000414.4(HSD17B4):c.160G>A (p.Ala54Thr)	3295	HSD17B4	Uncertain significance	758207228	RCV001942349;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809650	118809650	118809650	-
NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp)	3295	HSD17B4	Uncertain significance	141517981	RCV000283002\|RCV000342721;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809651	118809651	NC_000005.9:g.118809651C>A	ClinGen:CA3381703	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.161C>G (p.Ala54Gly)	3295	HSD17B4	Uncertain significance	141517981	RCV001926196;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809651	118809651	118809651	-
NM_000414.4(HSD17B4):c.161C>T (p.Ala54Val)	3295	HSD17B4	Uncertain significance	-1	RCV002301020\|RCV003097882;	N	MedGen:CN517202\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809651	118809651	118809651	-
NM_000414.4(HSD17B4):c.163G>A (p.Ala55Thr)	3295	HSD17B4	Uncertain significance	780149071	RCV002012223;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809653	118809653	118809653	-
NM_000414.4(HSD17B4):c.165T>C (p.Ala55=)	3295	HSD17B4	Likely benign	1748310768	RCV001472084;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809655	118809655	118809655	-
NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002306883;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809657	118809657	118809657	-
NM_000414.4(HSD17B4):c.175G>A (p.Val59Ile)	3295	HSD17B4	Uncertain significance	375339818	RCV000177063\|RCV002516725;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809665	118809665	5:g.118809665G>A	ClinGen:CA243164	CN169374 not specified;
NM_000414.4(HSD17B4):c.177del (p.Glu60fs)	3295	HSD17B4	Likely pathogenic	-1	RCV003461740;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809666	118809666		-
NM_000414.4(HSD17B4):c.177T>G (p.Val59=)	3295	HSD17B4	Likely benign	1460470115	RCV001442734;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809667	118809667	118809667	-
NM_000414.4(HSD17B4):c.178GAA[1] (p.Glu61del)	3295	HSD17B4	Uncertain significance	1554062119	RCV000669463;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809668	118809670	5:g.118809668_118809670del	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002310499;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809669	118809669	118809669	-
NM_000414.4(HSD17B4):c.186A>C (p.Ile62=)	3295	HSD17B4	Likely benign	748540970	RCV001416448;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809676	118809676	118809676	-
NM_000414.4(HSD17B4):c.192G>C (p.Arg64Ser)	3295	HSD17B4	Uncertain significance	1294462098	RCV001337531;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809682	118809682	118809682	-
NM_000414.4(HSD17B4):c.193A>C (p.Arg65=)	3295	HSD17B4	Likely benign	-1	RCV002811944;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809683	118809683		-
NM_000414.4(HSD17B4):c.195A>G (p.Arg65=)	3295	HSD17B4	Likely benign	555583311	RCV002156564;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809685	118809685	118809685	-
NM_000414.4(HSD17B4):c.198T>C (p.Gly66=)	3295	HSD17B4	Likely benign	1748314832	RCV002150257;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809688	118809688	118809688	-
NM_000414.4(HSD17B4):c.198T>G (p.Gly66=)	3295	HSD17B4	Likely benign	-1	RCV003034716;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809688	118809688		-
NM_000414.4(HSD17B4):c.200G>A (p.Gly67Glu)	3295	HSD17B4	Uncertain significance	-1	RCV002953993;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809690	118809690	NC_000005.9:g.118809690G>A	-
NM_000414.4(HSD17B4):c.207A>G (p.Ala69=)	3295	HSD17B4	Likely benign	1748315534	RCV001506791;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809697	118809697	118809697	-
NM_000414.4(HSD17B4):c.212_216del (p.Ala71fs)	3295	HSD17B4	Likely pathogenic	-1	RCV003461746;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809702	118809706		-
NM_000414.4(HSD17B4):c.216C>A (p.Asn72Lys)	3295	HSD17B4	Uncertain significance	1554062124	RCV000673018\|RCV001855589;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809706	118809706	5:g.118809706C>A	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.216C>T (p.Asn72=)	3295	HSD17B4	Likely benign	-1	RCV002851494;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809706	118809706		-
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)	3295	HSD17B4	Conflicting interpretations of pathogenicity	-1	RCV002952542\|RCV003147806;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809710	118809710	NC_000005.9:g.118809710G>A	-
NM_000414.4(HSD17B4):c.220+2T>C	3295	HSD17B4	Likely pathogenic	1231357043	RCV000674499;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809712	118809712	5:g.118809712T>C	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.220+3A>G	3295	HSD17B4	Uncertain significance	759069970	RCV001915345;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809713	118809713	118809713	-
NM_000414.4(HSD17B4):c.220+10T>C	3295	HSD17B4	Likely benign	-1	RCV002833439;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118809720	118809720	NC_000005.9:g.118809720T>C	-
NM_000414.4(HSD17B4):c.220+16G>A	3295	HSD17B4	Likely benign	1474872716	RCV002117567;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118809726	118809726	118809726	-
NM_000414.4(HSD17B4):c.221-18A>C	3295	HSD17B4	Likely benign	-1	RCV002867351;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810078	118810078	NC_000005.9:g.118810078A>C	-
NM_000414.4(HSD17B4):c.221-10T>C	3295	HSD17B4	Likely benign	561984163	RCV002111216;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810086	118810086	118810086	-
NM_000414.4(HSD17B4):c.221-5del	3295	HSD17B4	Likely benign	2126684201	RCV002196923;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810089	118810089	118810088	-
NM_000414.4(HSD17B4):c.221-5C>T	3295	HSD17B4	Likely benign	776341078	RCV001409530;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810091	118810091	118810091	-
NM_000414.4(HSD17B4):c.221-1G>C	3295	HSD17B4	Likely pathogenic	1554062168	RCV000670307;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810095	118810095	5:g.118810095G>C	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.225A>C (p.Ser75=)	3295	HSD17B4	Likely benign	1748368279	RCV002107926;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810100	118810100	118810100	-
NM_000414.4(HSD17B4):c.228G>A (p.Val76=)	3295	HSD17B4	Likely benign	1433204886	RCV002145793;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810103	118810103	118810103	-
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly)	3295	HSD17B4	Uncertain significance	769358132	RCV000730097\|RCV001153267\|RCV001155863\|RCV001868950;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp	5	118810105	118810105	NC_000005.9:g.118810105A>G	-
NM_000414.4(HSD17B4):c.231A>G (p.Glu77=)	3295	HSD17B4	Likely benign	1580547484	RCV001416678;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810106	118810106	5:g.118810106A>G	-
NM_000414.4(HSD17B4):c.241A>G (p.Lys81Glu)	3295	HSD17B4	Uncertain significance	1026521515	RCV002033480;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810116	118810116	118810116	-
NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter)	3295	HSD17B4	Likely pathogenic	-1	RCV002306493;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118810116	118810116	118810116	-
NM_000414.4(HSD17B4):c.243G>A (p.Lys81=)	3295	HSD17B4	Likely benign	2126684335	RCV002101801;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810118	118810118	118810118	-
NM_000414.4(HSD17B4):c.245T>C (p.Val82Ala)	3295	HSD17B4	Uncertain significance	-1	RCV002755758;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810120	118810120	NC_000005.9:g.118810120T>C	-
NM_000414.4(HSD17B4):c.249G>A (p.Val83=)	3295	HSD17B4	Likely benign	368850124	RCV001409668;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810124	118810124	118810124	-
NM_000414.4(HSD17B4):c.251A>G (p.Lys84Arg)	3295	HSD17B4	Uncertain significance	-1	RCV003109156;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810126	118810126	NC_000005.9:g.118810126A>G	-
NM_000414.4(HSD17B4):c.258C>T (p.Ala86=)	3295	HSD17B4	Likely benign	-1	RCV002791757;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810133	118810133		-
NM_000414.4(HSD17B4):c.259C>T (p.Leu87=)	3295	HSD17B4	Likely benign	-1	RCV003013918;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810134	118810134		-
NM_000414.4(HSD17B4):c.261G>C (p.Leu87=)	3295	HSD17B4	Likely benign	-1	RCV002811945;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810136	118810136		-
NM_000414.4(HSD17B4):c.264T>C (p.Asp88=)	3295	HSD17B4	Likely benign	763999607	RCV001449839\|RCV002070277;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810139	118810139	118810139	-
NM_000414.4(HSD17B4):c.270del (p.Phe90fs)	3295	HSD17B4	Pathogenic/Likely pathogenic	1276397342	RCV000665075\|RCV001861740;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810142	118810142	5:g.118810142_118810142del	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu)	3295	HSD17B4	Uncertain significance	28943588	RCV000308214\|RCV000398894\|RCV002520293;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810143	118810143	NC_000005.9:g.118810143T>C	ClinGen:CA3381737,UniProtKB:P51659#VAR_052309	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.272G>A (p.Gly91Glu)	3295	HSD17B4	Uncertain significance	-1	RCV003066592;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810147	118810147	NC_000005.9:g.118810147G>A	-
NM_000414.4(HSD17B4):c.275G>T (p.Arg92Ile)	3295	HSD17B4	Uncertain significance	754108630	RCV002000730;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810150	118810150	118810150	-
NM_000414.4(HSD17B4):c.278T>C (p.Ile93Thr)	3295	HSD17B4	Uncertain significance	544455125	RCV000595472\|RCV001242510\|RCV001834901;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810153	118810153	5:g.118810153T>C	ClinGen:CA3381742	CN169374 not specified;
NM_000414.4(HSD17B4):c.280+1_280+3del	3295	HSD17B4	Likely pathogenic	2126684546	RCV001733822;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810155	118810157	118810154	-
NM_000414.4(HSD17B4):c.280+2T>C	3295	HSD17B4	Pathogenic/Likely pathogenic	770772281	RCV001377228\|RCV001581112\|RCV001826124;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810157	118810157	118810157	-
NM_000414.4(HSD17B4):c.280+4A>G	3295	HSD17B4	Uncertain significance	759020197	RCV002015276;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810159	118810159	118810159	-
NM_000414.4(HSD17B4):c.280+4A>T	3295	HSD17B4	Uncertain significance	-1	RCV003085274;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810159	118810159	NC_000005.9:g.118810159A>T	-
NM_000414.4(HSD17B4):c.280+5T>C	3295	HSD17B4	Uncertain significance	2126684592	RCV002025655;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118810160	118810160	118810160	-
NM_000414.4(HSD17B4):c.280+9T>C	3295	HSD17B4	Likely benign	1288645410	RCV002152905;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810164	118810164	118810164	-
NM_000414.4(HSD17B4):c.280+10C>G	3295	HSD17B4	Likely benign	201014485	RCV001431489;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118810165	118810165	118810165	-
NC_000005.9:g.(?_118811381)_(118814736_?)del	3295	HSD17B4	Uncertain significance	-1	RCV003111184;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811381	118814736		-
NM_000414.4(HSD17B4):c.281-15del	3295	HSD17B4	Likely benign	-1	RCV002932465;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811386	118811386	NC_000005.9:g.118811386del	-
NM_000414.4(HSD17B4):c.281-9A>G	3295	HSD17B4	Likely benign	894789339	RCV001480602;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118811392	118811392	118811392	-
NM_000414.4(HSD17B4):c.281-7A>G	3295	HSD17B4	Benign	35201279	RCV000592835\|RCV000966957\|RCV001597182;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MedGen:C3661900	5	118811394	118811394	5:g.118811394A>G	ClinGen:CA3381762	CN169374 not specified;
NM_000414.4(HSD17B4):c.281-5T>C	3295	HSD17B4	Likely benign	777931867	RCV001440548;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811396	118811396	118811396	-
NM_000414.4(HSD17B4):c.281-2A>G	3295	HSD17B4	Likely pathogenic	1554062343	RCV000668345;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811399	118811399	5:g.118811399A>G	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
GRCh37/hg19 5q23.1(chr5:118811401-118814716)	3295	HSD17B4	Pathogenic	-1	RCV001004086;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811401	118814716		-
NM_000414.4(HSD17B4):c.290del (p.Val97fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002306687;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118811410	118811410	118811409	-
NM_000414.4(HSD17B4):c.292A>G (p.Asn98Asp)	3295	HSD17B4	Likely pathogenic	1561442127	RCV001991827;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118811412	118811412	118811412	-
NM_000414.4(HSD17B4):c.293A>G (p.Asn98Ser)	3295	HSD17B4	Pathogenic	1392361503	RCV001949665;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118811413	118811413	118811413	-
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs)	3295	HSD17B4	Pathogenic/Likely pathogenic	1057516672	RCV000410199\|RCV000676074\|RCV001861374;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118811414	118811415	5:g.118811414_118811415insA	ClinGen:CA16040960	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.297_298delinsCAT (p.Ala100fs)	3295	HSD17B4	Likely pathogenic	-1	RCV003461745;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811417	118811418		-
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser)	3295	HSD17B4	Conflicting interpretations of pathogenicity	1554062352	RCV000673049\|RCV001861817\|RCV002532141;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118811418	118811418	5:g.118811418G>T	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.302+3_302+6del	3295	HSD17B4	Pathogenic	863225438	RCV000202368;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811423	118811426	5:g.118811423_118811426del	ClinGen:CA279888	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.302+1G>A	3295	HSD17B4	Pathogenic/Likely pathogenic	2126689875	RCV001782266\|RCV002541199;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811423	118811423	118811423	-
NM_000414.4(HSD17B4):c.302+3delinsTGTTGTGATTTTTTAGTGAATTGTGTATTTTAGTGATGTGTGTATAATTTTTTTAAAAAGTATATA	3295	HSD17B4	Pathogenic	2126689896	RCV001844356;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811425	118811425	118811425	-
NM_000414.4(HSD17B4):c.302+7A>G	3295	HSD17B4	Likely benign	1027525354	RCV001468566;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811429	118811429	118811429	-
NM_000414.4(HSD17B4):c.303-17C>T	3295	HSD17B4	Likely benign	764289044	RCV002124191;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118811502	118811502	118811502	-
NM_000414.4(HSD17B4):c.303-11T>A	3295	HSD17B4	Uncertain significance	767897278	RCV001042941;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811508	118811508	5:g.118811508T>A	-
NM_000414.4(HSD17B4):c.303-3dup	3295	HSD17B4	Likely benign	1292554547	RCV001478823;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118811510	118811511	118811510	-
NM_000414.4(HSD17B4):c.303-7T>G	3295	HSD17B4	Likely benign	-1	RCV003088908;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811512	118811512	NC_000005.9:g.118811512T>G	-
NM_000414.4(HSD17B4):c.303-1G>A	3295	HSD17B4	Likely pathogenic	-1	RCV002471514;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811518	118811518	NC_000005.9:g.118811518G>A	-
NM_000414.4(HSD17B4):c.316C>T (p.Arg106Cys)	3295	HSD17B4	Uncertain significance	-1	RCV002654688\|RCV003395625;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811532	118811532	NC_000005.9:g.118811532C>T	-
NM_000414.4(HSD17B4):c.317G>C (p.Arg106Pro)	3295	HSD17B4	Pathogenic	25640	RCV000008096;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811533	118811533	5:g.118811533G>C	ClinGen:CA118962,UniProtKB:P51659#VAR_065906,OMIM:601860.0005	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His)	3295	HSD17B4	Benign	25640	RCV000179310\|RCV000391832\|RCV000362861\|RCV000676075\|RCV001517001;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O	5	118811533	118811533	5:g.118811533G>A	ClinGen:CA203225,UniProtKB:P51659#VAR_014872	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.330G>A (p.Arg110=)	3295	HSD17B4	Likely benign	181010091	RCV001476009;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811546	118811546	118811546	-
NM_000414.4(HSD17B4):c.338A>C (p.Asp113Ala)	3295	HSD17B4	Uncertain significance	-1	RCV002833127;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811554	118811554	NC_000005.9:g.118811554A>C	-
NM_000414.4(HSD17B4):c.349+1G>T	3295	HSD17B4	Likely pathogenic	1057516958	RCV000412316;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811566	118811566	NC_000005.9:g.118811566G>T	ClinGen:CA16040961	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.349+13del	3295	HSD17B4	Likely benign	1187910536	RCV002214660;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118811574	118811574	118811573	-
NM_000414.4(HSD17B4):c.349+13T>C	3295	HSD17B4	Likely benign	200513633	RCV002115174;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118811578	118811578	118811578	-
NM_000414.4(HSD17B4):c.350-17A>C	3295	HSD17B4	Likely benign	-1	RCV003052686;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118813095	118813095	NC_000005.9:g.118813095A>C	-
NM_000414.4(HSD17B4):c.350-10A>G	3295	HSD17B4	Likely benign	-1	RCV003111957;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118813102	118813102	NC_000005.9:g.118813102A>G	-
NM_000414.4(HSD17B4):c.350-7G>A	3295	HSD17B4	Likely benign	-1	RCV002819570;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813105	118813105	NC_000005.9:g.118813105G>A	-
NM_000414.4(HSD17B4):c.350-1G>T	3295	HSD17B4	Likely pathogenic	-1	RCV003050391;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813111	118813111	NC_000005.9:g.118813111G>T	-
NM_000414.4(HSD17B4):c.350-1G>A	3295	HSD17B4	Likely pathogenic	-1	RCV003461747;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813111	118813111		-
NM_000414.4(HSD17B4):c.350A>T (p.Asp117Val)	3295	HSD17B4	Pathogenic	-1	RCV003469847;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813112	118813112		-
NM_000414.4(HSD17B4):c.351T>C (p.Asp117=)	3295	HSD17B4	Likely benign	200667890	RCV001450809;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813113	118813113	118813113	-
NM_000414.4(HSD17B4):c.351T>A (p.Asp117Glu)	3295	HSD17B4	Uncertain significance	200667890	RCV001981699;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118813113	118813113	118813113	-
NM_000414.4(HSD17B4):c.353T>C (p.Ile118Thr)	3295	HSD17B4	Uncertain significance	139427751	RCV002000331;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813115	118813115	118813115	-
NM_000414.4(HSD17B4):c.357C>A (p.Ile119=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	374169186	RCV000729707\|RCV001488390;	N	MedGen:CN517202\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813119	118813119	NC_000005.9:g.118813119C>A	-
NM_000414.4(HSD17B4):c.358del (p.His120fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002310392;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813119	118813119	118813118	-
NM_000414.4(HSD17B4):c.361A>G (p.Arg121Gly)	3295	HSD17B4	Uncertain significance	1455328824	RCV001917639;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118813123	118813123	118813123	-
NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002309228;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813132	118813138	118813132	-
NM_000414.4(HSD17B4):c.373C>T (p.Arg125Trp)	3295	HSD17B4	Uncertain significance	-1	RCV002629902\|RCV002647843;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813135	118813135	NC_000005.9:g.118813135C>T	-
NM_000414.4(HSD17B4):c.375G>C (p.Arg125=)	3295	HSD17B4	Likely benign	745646107	RCV002077915;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813137	118813137	118813137	-
NM_000414.4(HSD17B4):c.376G>A (p.Gly126Ser)	3295	HSD17B4	Uncertain significance	769066826	RCV002040669;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813138	118813138	118813138	-
NM_000414.4(HSD17B4):c.381A>G (p.Ser127=)	3295	HSD17B4	Likely benign	-1	RCV002592000;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813143	118813143		-
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met)	3295	HSD17B4	Uncertain significance	1748692405	RCV001155864\|RCV001155865;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118813150	118813150	5:g.118813150G>A	-
NM_000414.4(HSD17B4):c.393dup (p.Arg132fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002302465;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813154	118813155	118813154	-
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)	3295	HSD17B4	Conflicting interpretations of pathogenicity	773305477	RCV000670514\|RCV000733584\|RCV001861793;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813156	118813156	5:g.118813156C>T	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.399A>G (p.Ala133=)	3295	HSD17B4	Likely benign	-1	RCV002834133;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813161	118813161		-
NM_000414.4(HSD17B4):c.402A>T (p.Ala134=)	3295	HSD17B4	Likely benign	754255447	RCV001436968;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118813164	118813164	118813164	-
NM_000414.4(HSD17B4):c.417G>A (p.Lys139=)	3295	HSD17B4	Likely benign	-1	RCV002760485;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118813179	118813179		-
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn)	3295	HSD17B4	Benign	28943589	RCV000221723\|RCV000368516\|RCV000309262\|RCV000711976\|RCV001084537;	N	MedGen:CN169374\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O	5	118813182	118813182	NC_000005.9:g.118813182A>T	ClinGen:CA3381825,UniProtKB:P51659#VAR_052310	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)	3295	HSD17B4	Pathogenic/Likely pathogenic	2126696915	RCV001389499\|RCV002246377\|RCV002504652;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900	5	118813183	118813183	118813183	-
NM_000414.4(HSD17B4):c.423_424del (p.Lys142fs)	3295	HSD17B4	Pathogenic	775832137	RCV000008098;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813184	118813185	5:g.118813184_118813185del	OMIM:601860.0007	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.426G>A (p.Lys142=)	3295	HSD17B4	Likely benign	758018890	RCV002126053;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118813188	118813188	118813188	-
NM_000414.4(HSD17B4):c.429T>C (p.Tyr143=)	3295	HSD17B4	Likely benign	751048975	RCV002144919;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118813191	118813191	118813191	-
NM_000414.4(HSD17B4):c.432A>G (p.Gly144=)	3295	HSD17B4	Likely benign	2126696973	RCV001413326;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118813194	118813194	118813194	-
NM_000414.4(HSD17B4):c.434+5A>G	3295	HSD17B4	Uncertain significance	-1	RCV002645857;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118813201	118813201	NC_000005.9:g.118813201A>G	-
NM_000414.4(HSD17B4):c.434+9G>T	3295	HSD17B4	Likely benign	2126697024	RCV002149236;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118813205	118813205	118813205	-
NM_000414.4(HSD17B4):c.434+15G>C	3295	HSD17B4	Likely benign	-1	RCV002774772;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118813211	118813211	NC_000005.9:g.118813211G>C	-
NM_000414.4(HSD17B4):c.434+44T>C	3295	HSD17B4	Benign	457106	RCV001543953\|RCV001543954\|RCV001638147;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900	5	118813240	118813240	118813240	-
NM_000414.4(HSD17B4):c.434+120A>G	3295	HSD17B4	Benign	463513	RCV001543955\|RCV001543956\|RCV001619960;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900	5	118813316	118813316	118813316	-
NM_000414.4(HSD17B4):c.435-4T>A	3295	HSD17B4	Likely benign	2126702366	RCV002206476;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814525	118814525	118814525	-
NM_000414.4(HSD17B4):c.435-2A>T	3295	HSD17B4	Likely pathogenic	1171426785	RCV000665194;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814527	118814527	5:g.118814527A>T	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.435-2A>G	3295	HSD17B4	Likely pathogenic	-1	RCV003461742;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814527	118814527		-
NM_000414.4(HSD17B4):c.439del (p.Ile147fs)	3295	HSD17B4	Pathogenic	2126702418	RCV001878915;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814533	118814533	118814532	-
NM_000414.4(HSD17B4):c.442A>G (p.Met148Val)	3295	HSD17B4	Uncertain significance	765174171	RCV001937461;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814536	118814536	118814536	-
NM_000414.4(HSD17B4):c.456T>C (p.Ala152=)	3295	HSD17B4	Likely benign	779756356	RCV001468279;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814550	118814550	118814550	-
NM_000414.4(HSD17B4):c.459A>C (p.Ser153=)	3295	HSD17B4	Likely benign	749090911	RCV002076623;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814553	118814553	118814553	-
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro)	3295	HSD17B4	Uncertain significance	771009588	RCV001157566\|RCV001157565\|RCV001772352;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:CN517202	5	118814576	118814576	5:g.118814576A>C	-
NM_000414.4(HSD17B4):c.491A>G (p.Tyr164Cys)	3295	HSD17B4	Uncertain significance	-1	RCV002304279;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814585	118814585	118814585	-
NM_000414.4(HSD17B4):c.498T>G (p.Ala166=)	3295	HSD17B4	Likely benign	1748850526	RCV001429883;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814592	118814592	118814592	-
NM_000414.4(HSD17B4):c.498T>C (p.Ala166=)	3295	HSD17B4	Likely benign	1748850526	RCV002210702;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814592	118814592	118814592	-
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	776640310	RCV000593808\|RCV001079250;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814595	118814595	5:g.118814595A>C	ClinGen:CA3381868	CN169374 not specified;
NM_000414.4(HSD17B4):c.505T>C (p.Leu169=)	3295	HSD17B4	Likely benign	-1	RCV003043605\|RCV003427548;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900	5	118814599	118814599		-
NM_000414.4(HSD17B4):c.519C>T (p.Gly173=)	3295	HSD17B4	Likely benign	770301555	RCV001407786;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814613	118814613	118814613	-
NM_000414.4(HSD17B4):c.523G>A (p.Ala175Thr)	3295	HSD17B4	Uncertain significance	1554062814	RCV000671924;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814617	118814617	5:g.118814617G>A	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)	3295	HSD17B4	Likely pathogenic	775766910	RCV000171385\|RCV003317125;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814620	118814620	5:g.118814620A>G	ClinGen:CA236237	CN517202 not provided;
NM_000414.4(HSD17B4):c.529T>C (p.Ser177Pro)	3295	HSD17B4	Uncertain significance	-1	RCV002643024;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814623	118814623	NC_000005.9:g.118814623T>C	-
NM_000414.4(HSD17B4):c.537A>G (p.Ala179=)	3295	HSD17B4	Likely benign	2126702878	RCV001397345;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814631	118814631	118814631	-
NM_000414.4(HSD17B4):c.550A>G (p.Lys184Glu)	3295	HSD17B4	Uncertain significance	-1	RCV003074834\|RCV003078971;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814644	118814644	NC_000005.9:g.118814644A>G	-
NM_000414.4(HSD17B4):c.561dup (p.His188fs)	3295	HSD17B4	Pathogenic	-1	RCV003048391;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814653	118814654	NC_000005.9:g.118814655dup	-
NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser)	3295	HSD17B4	Uncertain significance	372914814	RCV001303689\|RCV001830200;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814660	118814660	118814660	-
NM_000414.4(HSD17B4):c.571A>G (p.Thr191Ala)	3295	HSD17B4	Uncertain significance	1397379413	RCV000992170\|RCV001274460;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814665	118814665	5:g.118814665A>G	-
NM_000414.4(HSD17B4):c.581_612del (p.Pro194fs)	3295	HSD17B4	Likely pathogenic	-1	RCV003461744;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814675	118814706		-
NM_000414.4(HSD17B4):c.585T>C (p.Asn195=)	3295	HSD17B4	Likely benign	750582359	RCV001398610;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814679	118814679	118814679	-
NM_000414.4(HSD17B4):c.590_597dup (p.Met200fs)	3295	HSD17B4	Pathogenic	2126703106	RCV001901577;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814680	118814681	118814680	-
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val)	3295	HSD17B4	Conflicting interpretations of pathogenicity	550705310	RCV002034370\|RCV002222752;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:CN169374	5	118814681	118814681	118814681	-
NM_000414.4(HSD17B4):c.588G>A (p.Ala196=)	3295	HSD17B4	Likely benign	748937758	RCV001994808;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814682	118814682	118814682	-
NM_000414.4(HSD17B4):c.591A>G (p.Gly197=)	3295	HSD17B4	Likely benign	2126703123	RCV001497273;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814685	118814685	118814685	-
NM_000414.4(HSD17B4):c.594A>T (p.Ser198=)	3295	HSD17B4	Likely benign	2126703127	RCV001474470;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814688	118814688	118814688	-
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)	3295	HSD17B4	Uncertain significance	-1	RCV002903774\|RCV003317625\|RCV003324053;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:CN517202\|MedGen:CN169374	5	118814689	118814689	NC_000005.9:g.118814689C>T	-
NM_000414.4(HSD17B4):c.596G>A (p.Arg199Gln)	3295	HSD17B4	Uncertain significance	-1	RCV003072782;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814690	118814690	NC_000005.9:g.118814690G>A	-
NM_000414.4(HSD17B4):c.597G>A (p.Arg199=)	3295	HSD17B4	Likely benign	770261826	RCV000827085\|RCV001397772\|RCV001825688;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814691	118814691	5:g.118814691G>A	-
NM_000414.4(HSD17B4):c.607_610del (p.Thr203fs)	3295	HSD17B4	Likely pathogenic	1057516310	RCV000410593;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814698	118814701	NC_000005.9:g.118814701_118814704del	ClinGen:CA16040962	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.605dup (p.Thr203fs)	3295	HSD17B4	Pathogenic	2126703227	RCV001975004;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814698	118814699	118814698	-
NM_000414.4(HSD17B4):c.614T>C (p.Met205Thr)	3295	HSD17B4	Uncertain significance	761601392	RCV001568760\|RCV001832779;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814708	118814708	118814708	-
NM_000414.4(HSD17B4):c.618T>A (p.Pro206=)	3295	HSD17B4	Likely benign	-1	RCV002867541;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814712	118814712		-
NM_000414.4(HSD17B4):c.622+5G>A	3295	HSD17B4	Conflicting interpretations of pathogenicity	536487449	RCV000841012\|RCV001157567\|RCV001157568\|RCV002536126\|RCV003411826;	N	MedGen:C3661900\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or	5	118814721	118814721	5:g.118814721G>A	-
NM_000414.4(HSD17B4):c.622+8A>G	3295	HSD17B4	Likely benign	-1	RCV002811331;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814724	118814724	NC_000005.9:g.118814724A>G	-
NM_000414.4(HSD17B4):c.622+9G>A	3295	HSD17B4	Likely benign	2126703352	RCV002160930;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814725	118814725	118814725	-
NM_000414.4(HSD17B4):c.622+15T>A	3295	HSD17B4	Likely benign	201280286	RCV000216566\|RCV002057109;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814731	118814731	NC_000005.9:g.118814731T>A	ClinGen:CA3381898	CN169374 not specified;
NM_000414.4(HSD17B4):c.622+17A>G	3295	HSD17B4	Likely benign	-1	RCV003065414;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118814733	118814733	NC_000005.9:g.118814733A>G	-
NM_000414.4(HSD17B4):c.622+20T>G	3295	HSD17B4	Likely benign	-1	RCV003008368;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118814736	118814736	NC_000005.9:g.118814736T>G	-
NM_000414.4(HSD17B4):c.623-8dup	3295	HSD17B4	Likely benign	-1	RCV002654696;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118824876	118824877	NC_000005.9:g.118824879dup	-
NM_000414.4(HSD17B4):c.623-8T>C	3295	HSD17B4	Likely benign	1393357671	RCV002161007;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118824879	118824879	118824879	-
NM_000414.4(HSD17B4):c.623-2A>G	3295	HSD17B4	Likely pathogenic	-1	RCV003155872;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824885	118824885		-
NM_000414.4(HSD17B4):c.623-1G>A	3295	HSD17B4	Likely pathogenic	1554064083	RCV000667705;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824886	118824886	5:g.118824886G>A	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002306761;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118824889	118824895	118824888	-
NM_000414.4(HSD17B4):c.627T>C (p.Leu209=)	3295	HSD17B4	Likely benign	2126739965	RCV001395917;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824891	118824891	118824891	-
NM_000414.4(HSD17B4):c.628G>A (p.Val210Met)	3295	HSD17B4	Uncertain significance	1017610439	RCV000728700\|RCV002535087;	N	MedGen:CN517202\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824892	118824892	NC_000005.9:g.118824892G>A	-
NM_000414.4(HSD17B4):c.636C>T (p.Ala212=)	3295	HSD17B4	Likely benign	1409182370	RCV001496816;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824900	118824900	118824900	-
NM_000414.4(HSD17B4):c.637C>T (p.Leu213=)	3295	HSD17B4	Likely benign	-1	RCV003009896;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824901	118824901		-
NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002309213;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824902	118824903	118824901	-
NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002306762;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118824903	118824912	118824902	-
NM_000414.4(HSD17B4):c.642G>A (p.Lys214=)	3295	HSD17B4	Likely benign	968788089	RCV001461986;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824906	118824906	118824906	-
NM_000414.4(HSD17B4):c.643C>T (p.Pro215Ser)	3295	HSD17B4	Uncertain significance	552078818	RCV000220416\|RCV001273795;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824907	118824907	NC_000005.9:g.118824907C>T	ClinGen:CA3381920	CN169374 not specified;
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr)	3295	HSD17B4	Uncertain significance	552078818	RCV001157570\|RCV001157569\|RCV001772353\|RCV001859026;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:CN517202\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or	5	118824907	118824907	5:g.118824907C>A	-
NM_000414.4(HSD17B4):c.645A>G (p.Pro215=)	3295	HSD17B4	Likely benign	1749876910	RCV001487795;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118824909	118824909	118824909	-
NM_000414.4(HSD17B4):c.648G>A (p.Glu216=)	3295	HSD17B4	Likely benign	762731834	RCV001450298\|RCV001832581;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824912	118824912	118824912	-
NM_000414.4(HSD17B4):c.651T>C (p.Tyr217=)	3295	HSD17B4	Likely benign	2126740088	RCV002187464;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824915	118824915	118824915	-
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)	3295	HSD17B4	Pathogenic/Likely pathogenic	1749878115	RCV001645023\|RCV002546240\|RCV003469556;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824916	118824916	118824916	-
NM_000414.4(HSD17B4):c.652_656del (p.Val218fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002306759;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118824916	118824920	118824915	-
NM_000414.4(HSD17B4):c.654G>C (p.Val218=)	3295	HSD17B4	Likely benign	2126740113	RCV001472049;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118824918	118824918	118824918	-
NM_000414.4(HSD17B4):c.657dup (p.Pro220fs)	3295	HSD17B4	Pathogenic	-1	RCV002877065;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118824920	118824921	NC_000005.9:g.118824921dup	-
NM_000414.4(HSD17B4):c.657del (p.Pro220fs)	3295	HSD17B4	Pathogenic	2126740125	RCV002000200;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118824921	118824921	118824920	-
NM_000414.4(HSD17B4):c.658C>T (p.Pro220Ser)	3295	HSD17B4	Uncertain significance	-1	RCV003077519;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118824922	118824922	NC_000005.9:g.118824922C>T	-
NM_000414.4(HSD17B4):c.661C>T (p.Leu221Phe)	3295	HSD17B4	Uncertain significance	1554064092	RCV000675010;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824925	118824925	5:g.118824925C>T	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.666C>G (p.Val222=)	3295	HSD17B4	Benign/Likely benign	150677536	RCV000180501\|RCV000274011\|RCV000332404\|RCV000974778\|RCV001697129;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp	5	118824930	118824930	5:g.118824930C>G	ClinGen:CA203712	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.666C>T (p.Val222=)	3295	HSD17B4	Likely benign	150677536	RCV000942460\|RCV001273796\|RCV003117647;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900	5	118824930	118824930	5:g.118824930C>T	-
NM_000414.4(HSD17B4):c.669T>C (p.Leu223=)	3295	HSD17B4	Likely benign	2126740206	RCV001418213;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118824933	118824933	118824933	-
NM_000414.4(HSD17B4):c.673C>T (p.Leu225Phe)	3295	HSD17B4	Uncertain significance	1749881286	RCV001330482;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824937	118824937	118824937	-
NM_000414.4(HSD17B4):c.675T>G (p.Leu225=)	3295	HSD17B4	Likely benign	771467784	RCV000891361;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824939	118824939	5:g.118824939T>G	-
NM_000414.4(HSD17B4):c.678T>C (p.Cys226=)	3295	HSD17B4	Likely benign	1242643593	RCV002149543;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824942	118824942	118824942	-
NM_000414.4(HSD17B4):c.681C>T (p.His227=)	3295	HSD17B4	Likely benign	371111330	RCV001447532;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118824945	118824945	118824945	-
NM_000414.4(HSD17B4):c.682G>T (p.Glu228Ter)	3295	HSD17B4	Pathogenic	746702458	RCV001878420;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824946	118824946	118824946	-
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs)	3295	HSD17B4	Pathogenic/Likely pathogenic	2126740316	RCV001951440\|RCV002307818;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118824960	118824961	118824960	-
NM_000414.4(HSD17B4):c.699T>C (p.Asn233=)	3295	HSD17B4	Likely benign	776251160	RCV001501147;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118824963	118824963	118824963	-
NM_000414.4(HSD17B4):c.709_712del (p.Phe237fs)	3295	HSD17B4	Likely pathogenic	1057516750	RCV000410752;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824970	118824973	5:g.118824970_118824973del	ClinGen:CA16040963	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.714+10C>G	3295	HSD17B4	Likely benign	-1	RCV002619415;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824988	118824988	NC_000005.9:g.118824988C>G	-
NM_000414.4(HSD17B4):c.714+12T>G	3295	HSD17B4	Likely benign	762828103	RCV000604805\|RCV002066819;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118824990	118824990	5:g.118824990T>G	ClinGen:CA3381937	CN169374 not specified;
NM_000414.4(HSD17B4):c.714+14C>T	3295	HSD17B4	Likely benign	-1	RCV002631655;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118824992	118824992	NC_000005.9:g.118824992C>T	-
NC_000005.9:g.(?_118827775)_(118837807_?)del	3295	HSD17B4	Pathogenic	-1	RCV003111183;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118827775	118837807		-
NM_000414.4(HSD17B4):c.715-13del	3295	HSD17B4	Likely benign	-1	RCV002957704;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118827778	118827778	NC_000005.9:g.118827782del	-
NM_000414.4(HSD17B4):c.715-13C>T	3295	HSD17B4	Benign/Likely benign	185869017	RCV000218496\|RCV001152101\|RCV001152100\|RCV001711991\|RCV002057071;	N	MedGen:CN169374\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O	5	118827782	118827782	NC_000005.9:g.118827782C>T	ClinGen:CA3381951	CN169374 not specified;
NM_000414.4(HSD17B4):c.715-7T>C	3295	HSD17B4	Likely benign	1750161516	RCV001397832;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118827788	118827788	118827788	-
NM_000414.4(HSD17B4):c.715-6T>C	3295	HSD17B4	Likely benign	2126751672	RCV002149018;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118827789	118827789	118827789	-
NM_000414.4(HSD17B4):c.715-1G>A	3295	HSD17B4	Pathogenic/Likely pathogenic	-1	RCV002853109\|RCV003464618;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118827794	118827794	NC_000005.9:g.118827794G>A	-
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg)	3295	HSD17B4	Uncertain significance	886059821	RCV000259721\|RCV000354487;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118827798	118827798	NC_000005.9:g.118827798G>A	ClinGen:CA10622272	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.725del (p.Gly242fs)	3295	HSD17B4	Likely pathogenic	-1	RCV003469844;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118827804	118827804		-
NM_000414.4(HSD17B4):c.726A>G (p.Gly242=)	3295	HSD17B4	Likely benign	140376279	RCV002075174;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118827806	118827806	118827806	-
NM_000414.4(HSD17B4):c.728G>A (p.Trp243Ter)	3295	HSD17B4	Pathogenic	2126751711	RCV001958823;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118827808	118827808	118827808	-
NM_000414.4(HSD17B4):c.739+2dup	3295	HSD17B4	Uncertain significance	1554064396	RCV000666351;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118827820	118827821	5:g.118827820_118827821insT	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.739+1G>A	3295	HSD17B4	Likely pathogenic	1561456373	RCV001377343\|RCV001831338;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118827820	118827820	118827820	-
NM_000414.4(HSD17B4):c.739+1G>T	3295	HSD17B4	Likely pathogenic	-1	RCV003008191;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118827820	118827820	NC_000005.9:g.118827820G>T	-
NM_000414.4(HSD17B4):c.739+2T>C	3295	HSD17B4	Likely pathogenic	-1	RCV003469850;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118827821	118827821		-
NM_000414.4(HSD17B4):c.739+6TC[2]	3295	HSD17B4	Likely benign	1208834876	RCV001502615;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118827825	118827828	118827824	-
NM_000414.4(HSD17B4):c.739+6TC[3]	3295	HSD17B4	Likely benign	-1	RCV003033922;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118827825	118827826	NC_000005.9:g.118827825TC[3]	-
NM_000414.4(HSD17B4):c.739+7C>A	3295	HSD17B4	Likely benign	-1	RCV003111962;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118827826	118827826	NC_000005.9:g.118827826C>A	-
NM_000414.4(HSD17B4):c.739+8T>C	3295	HSD17B4	Likely benign	2126751803	RCV001469950;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118827827	118827827	118827827	-
NM_000414.4(HSD17B4):c.739+23T>C	3295	HSD17B4	Benign	6895345	RCV000676076\|RCV001543958\|RCV001543957;	N	MedGen:C3661900\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118827842	118827842	5:g.118827842T>C	-	CN517202 not provided;
NM_000414.4(HSD17B4):c.740-16T>G	3295	HSD17B4	Benign/Likely benign	35416500	RCV002072207\|RCV001570839;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MedGen:C3661900	5	118829497	118829497	118829497	-
NM_000414.4(HSD17B4):c.740-8A>G	3295	HSD17B4	Likely benign	1580606498	RCV002218934;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829505	118829505	118829505	-
NM_000414.4(HSD17B4):c.740-7T>C	3295	HSD17B4	Likely benign	376669126	RCV001402997;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829506	118829506	118829506	-
NM_000414.4(HSD17B4):c.740-5A>C	3295	HSD17B4	Likely benign	779586877	RCV002180850;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829508	118829508	118829508	-
NM_000414.4(HSD17B4):c.740-4C>T	3295	HSD17B4	Likely benign	-1	RCV003083571;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829509	118829509	NC_000005.9:g.118829509C>T	-
NM_000414.4(HSD17B4):c.740T>G (p.Leu247Ter)	3295	HSD17B4	Pathogenic	144141837	RCV001962903;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829513	118829513	118829513	-
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)	3295	HSD17B4	Likely pathogenic	-1	RCV003469854;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829513	118829513		-
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)	3295	HSD17B4	Pathogenic/Likely pathogenic	969485098	RCV000409273\|RCV000815715\|RCV001840499;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900	5	118829515	118829515	NC_000005.9:g.118829515C>T	ClinGen:CA16040964	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.742C>G (p.Arg248Gly)	3295	HSD17B4	Uncertain significance	969485098	RCV001937673;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829515	118829515	118829515	-
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)	3295	HSD17B4	Conflicting interpretations of pathogenicity	748057401	RCV000493335\|RCV000671323\|RCV001856978\|RCV002282178;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MedGen:CN169374	5	118829516	118829516	5:g.118829516G>A	ClinGen:CA3381977	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.743G>T (p.Arg248Leu)	3295	HSD17B4	Likely pathogenic	-1	RCV002580362;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829516	118829516	NC_000005.9:g.118829516G>T	-
NM_000414.4(HSD17B4):c.751C>T (p.Arg251Trp)	3295	HSD17B4	Conflicting interpretations of pathogenicity	771780974	RCV000676077\|RCV001855620\|RCV003235343;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MedGen:CN169374	5	118829524	118829524	NC_000005.9:g.118829524C>T	-	CN517202 not provided;
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln)	3295	HSD17B4	Conflicting interpretations of pathogenicity	773024366	RCV001092769\|RCV002554855\|RCV003469291;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829525	118829525	5:g.118829525G>A	-
NM_000414.4(HSD17B4):c.752G>T (p.Arg251Leu)	3295	HSD17B4	Likely pathogenic	-1	RCV002819051;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829525	118829525	NC_000005.9:g.118829525G>T	-
NM_000414.4(HSD17B4):c.755C>T (p.Thr252Ile)	3295	HSD17B4	Uncertain significance	-1	RCV002585160;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829528	118829528	NC_000005.9:g.118829528C>T	-
NM_000414.4(HSD17B4):c.761G>A (p.Gly254Glu)	3295	HSD17B4	Uncertain significance	-1	RCV002686279;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829534	118829534	NC_000005.9:g.118829534G>A	-
NM_000414.4(HSD17B4):c.766A>G (p.Ile256Val)	3295	HSD17B4	Uncertain significance	768345875	RCV000731931\|RCV002535246;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829539	118829539	NC_000005.9:g.118829539A>G	-
NM_000414.4(HSD17B4):c.774A>G (p.Arg258=)	3295	HSD17B4	Likely benign	-1	RCV003074105;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829547	118829547		-
NM_000414.4(HSD17B4):c.782A>C (p.Asn261Thr)	3295	HSD17B4	Uncertain significance	763121959	RCV001963951\|RCV002466726;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MedGen:C3661900	5	118829555	118829555	118829555	-
NM_000414.4(HSD17B4):c.784C>G (p.His262Asp)	3295	HSD17B4	Uncertain significance	-1	RCV003038595;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829557	118829557	NC_000005.9:g.118829557C>G	-
NM_000414.4(HSD17B4):c.788del (p.Pro263fs)	3295	HSD17B4	Likely pathogenic	1561457987	RCV000780347;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829559	118829559	NC_000005.9:g.118829561del	-
NM_000414.4(HSD17B4):c.786C>T (p.His262=)	3295	HSD17B4	Likely benign	1159372786	RCV002163641;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829559	118829559	118829559	-
NM_000414.4(HSD17B4):c.789A>G (p.Pro263=)	3295	HSD17B4	Likely benign	2126758749	RCV001428993;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829562	118829562	118829562	-
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val)	3295	HSD17B4	Uncertain significance	149283499	RCV001152103\|RCV001152102\|RCV002557282;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829563	118829563	5:g.118829563A>G	-
NM_000414.4(HSD17B4):c.793A>G (p.Thr265Ala)	3295	HSD17B4	Uncertain significance	-1	RCV002592010;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829566	118829566	NC_000005.9:g.118829566A>G	-
NM_000414.4(HSD17B4):c.795T>C (p.Thr265=)	3295	HSD17B4	Likely benign	-1	RCV003029578;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829568	118829568		-
NM_000414.4(HSD17B4):c.796C>T (p.Pro266Ser)	3295	HSD17B4	Uncertain significance	146555135	RCV001770996\|RCV002540295;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829569	118829569	118829569	-
NM_000414.4(HSD17B4):c.807C>G (p.Val269=)	3295	HSD17B4	Likely benign	1750349863	RCV001393332;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829580	118829580	118829580	-
NM_000414.4(HSD17B4):c.807C>T (p.Val269=)	3295	HSD17B4	Likely benign	1750349863	RCV001413193;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829580	118829580	118829580	-
NM_000414.4(HSD17B4):c.810G>A (p.Lys270=)	3295	HSD17B4	Likely benign	2126758874	RCV001483520;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829583	118829583	118829583	-
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr)	3295	HSD17B4	Conflicting interpretations of pathogenicity	543710228	RCV000319617\|RCV000374018\|RCV000730900\|RCV002520294;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or	5	118829584	118829584	NC_000005.9:g.118829584G>A	ClinGen:CA3381989	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.813T>C (p.Ala271=)	3295	HSD17B4	Likely benign	-1	RCV002615155;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829586	118829586		-
NM_000414.4(HSD17B4):c.814A>G (p.Asn272Asp)	3295	HSD17B4	Uncertain significance	2126758919	RCV002047957;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829587	118829587	118829587	-
NM_000414.4(HSD17B4):c.815A>C (p.Asn272Thr)	3295	HSD17B4	Uncertain significance	779675068	RCV001316582;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829588	118829588	118829588	-
NM_000414.4(HSD17B4):c.816C>T (p.Asn272=)	3295	HSD17B4	Likely benign	2126758935	RCV002177428;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829589	118829589	118829589	-
NM_000414.4(HSD17B4):c.819G>T (p.Trp273Cys)	3295	HSD17B4	Pathogenic/Likely pathogenic	368744809	RCV002518408\|RCV003463693;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829592	118829592	NC_000005.9:g.118829592G>T	ClinVar:424728,ClinGen:CA052835	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.822G>A (p.Lys274=)	3295	HSD17B4	Likely benign	141216594	RCV001502415;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829595	118829595	118829595	-
NM_000414.4(HSD17B4):c.842A>G (p.Asn281Ser)	3295	HSD17B4	Uncertain significance	1750354718	RCV001918652;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829615	118829615	118829615	-
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro)	3295	HSD17B4	Uncertain significance	1750354958	RCV001153370\|RCV001153371;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829617	118829617	5:g.118829617G>C	-
NM_000414.4(HSD17B4):c.846C>T (p.Ala282=)	3295	HSD17B4	Likely benign	2126759083	RCV002172603;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829619	118829619	118829619	-
NM_000414.4(HSD17B4):c.847A>T (p.Ser283Cys)	3295	HSD17B4	Uncertain significance	-1	RCV002828861;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829620	118829620	NC_000005.9:g.118829620A>T	-
NM_000414.4(HSD17B4):c.854C>T (p.Pro285Leu)	3295	HSD17B4	Uncertain significance	-1	RCV002923304;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829627	118829627	NC_000005.9:g.118829627C>T	-
NM_000414.4(HSD17B4):c.857del (p.Gln286fs)	3295	HSD17B4	Pathogenic	-1	RCV002876699;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829630	118829630	NC_000005.9:g.118829630del	-
NM_000414.4(HSD17B4):c.861T>C (p.Ser287=)	3295	HSD17B4	Likely benign	2126759154	RCV002216919;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829634	118829634	118829634	-
NM_000414.4(HSD17B4):c.868+1del	3295	HSD17B4	Pathogenic/Likely pathogenic	749532705	RCV000780346\|RCV001040699\|RCV002487606\|RCV003396357;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO	5	118829641	118829641	NC_000005.9:g.118829642del	-
NM_000414.4(HSD17B4):c.868+8G>A	3295	HSD17B4	Likely benign	2126759227	RCV002163758;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829649	118829649	118829649	-
NM_000414.4(HSD17B4):c.868+9A>G	3295	HSD17B4	Likely benign	-1	RCV003019078;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829650	118829650	NC_000005.9:g.118829650A>G	-
NM_000414.4(HSD17B4):c.868+11T>G	3295	HSD17B4	Likely benign	-1	RCV003000051;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118829652	118829652	NC_000005.9:g.118829652T>G	-
NM_000414.4(HSD17B4):c.868+15C>T	3295	HSD17B4	Likely benign	-1	RCV002624680;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829656	118829656	NC_000005.9:g.118829656C>T	-
NM_000414.4(HSD17B4):c.868+16G>A	3295	HSD17B4	Likely benign	-1	RCV002599424;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829657	118829657	NC_000005.9:g.118829657G>A	-
NM_000414.4(HSD17B4):c.868+18C>G	3295	HSD17B4	Likely benign	-1	RCV003039769;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118829659	118829659	NC_000005.9:g.118829659C>G	-
NM_000414.4(HSD17B4):c.869-8C>T	3295	HSD17B4	Likely benign	1184914279	RCV001493681;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832230	118832230	118832230	-
NM_000414.4(HSD17B4):c.869-4T>A	3295	HSD17B4	Uncertain significance	1257077894	RCV001279112;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832234	118832234	5:g.118832234T>A	-
NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter)	3295	HSD17B4	Likely pathogenic	1057516269	RCV000410643;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832241	118832241	NC_000005.9:g.118832241C>G	ClinGen:CA16040965	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser)	3295	HSD17B4	Benign/Likely benign	1143650	RCV000223502\|RCV000224881\|RCV000265653\|RCV000320748\|RCV001084093;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O	5	118832244	118832244	NC_000005.9:g.118832244C>G	ClinGen:CA3382033,UniProtKB:P51659#VAR_024625	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.879C>G (p.Gly293=)	3295	HSD17B4	Likely benign	759164470	RCV002218820;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118832248	118832248	118832248	-
NM_000414.4(HSD17B4):c.882T>C (p.Ser294=)	3295	HSD17B4	Likely benign	-1	RCV002844024;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118832251	118832251		-
NM_000414.4(HSD17B4):c.911C>G (p.Ser304Ter)	3295	HSD17B4	Pathogenic	958986994	RCV001382916;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118832280	118832280	118832280	-
NM_000414.4(HSD17B4):c.922G>A (p.Val308Ile)	3295	HSD17B4	Uncertain significance	-1	RCV003052882;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118832291	118832291	NC_000005.9:g.118832291G>A	-
NM_000414.4(HSD17B4):c.925T>C (p.Ser309Pro)	3295	HSD17B4	Uncertain significance	-1	RCV002942769;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832294	118832294	NC_000005.9:g.118832294T>C	-
NM_000414.4(HSD17B4):c.932A>G (p.Asn311Ser)	3295	HSD17B4	Uncertain significance	200867795	RCV000598487\|RCV002532599;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118832301	118832301	5:g.118832301A>G	ClinGen:CA3382040	CN169374 not specified;
NM_000414.4(HSD17B4):c.934C>T (p.His312Tyr)	3295	HSD17B4	Uncertain significance	-1	RCV003086566;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118832303	118832303	NC_000005.9:g.118832303C>T	-
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)	3295	HSD17B4	Pathogenic/Likely pathogenic	758055753	RCV000599590\|RCV000984186\|RCV001250093\|RCV001387755\|RCV003411447;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp	5	118832304	118832305	5:g.118832304_118832305del	ClinGen:CA3382041	CN517202 not provided;
NM_000414.4(HSD17B4):c.936T>C (p.His312=)	3295	HSD17B4	Likely benign	-1	RCV002623293;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832305	118832305		-
NM_000414.4(HSD17B4):c.939T>C (p.Thr313=)	3295	HSD17B4	Likely benign	2126770222	RCV002072829;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832308	118832308	118832308	-
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys)	3295	HSD17B4	Uncertain significance	373503389	RCV000285195\|RCV000379976\|RCV002520295;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118832312	118832312	NC_000005.9:g.118832312C>T	ClinGen:CA3382043	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.947_948del (p.Ala316fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002307004;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832316	118832317	118832315	-
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=)	3295	HSD17B4	Benign/Likely benign	192301957	RCV000335620\|RCV000970642\|RCV001155975\|RCV001153372\|RCV001660545;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or	5	118832317	118832317	5:g.118832317A>G	ClinGen:CA3382044	CN169374 not specified;
NM_000414.4(HSD17B4):c.948A>C (p.Ala316=)	3295	HSD17B4	Likely benign	192301957	RCV002172191;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832317	118832317	118832317	-
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)	3295	HSD17B4	Conflicting interpretations of pathogenicity	150326995	RCV000222427\|RCV000380697\|RCV000344886\|RCV000731627\|RCV000765793\|RCV001083539;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,O	5	118832319	118832319	5:g.118832319C>T	ClinGen:CA3382045	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	779198396	RCV000732993\|RCV001155976\|RCV001155977\|RCV001401487;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp	5	118832320	118832320	NC_000005.9:g.118832320G>A	-
NM_000414.4(HSD17B4):c.951G>T (p.Thr317=)	3295	HSD17B4	Likely benign	779198396	RCV001432906;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832320	118832320	118832320	-
NM_000414.4(HSD17B4):c.954T>C (p.Ser318=)	3295	HSD17B4	Likely benign	1561461048	RCV001449021;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118832323	118832323	118832323	-
NM_000414.4(HSD17B4):c.957A>G (p.Thr319=)	3295	HSD17B4	Likely benign	748258737	RCV000922916;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118832326	118832326	5:g.118832326A>G	-
NM_000414.4(HSD17B4):c.960A>G (p.Ala320=)	3295	HSD17B4	Likely benign	2126770390	RCV001428987;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118832329	118832329	118832329	-
NM_000414.4(HSD17B4):c.963A>C (p.Thr321=)	3295	HSD17B4	Likely benign	1750675419	RCV001442782;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832332	118832332	118832332	-
NM_000414.4(HSD17B4):c.966A>G (p.Ser322=)	3295	HSD17B4	Likely benign	2126770408	RCV002178070;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832335	118832335	118832335	-
NM_000414.4(HSD17B4):c.972+1G>A	3295	HSD17B4	Likely pathogenic	-1	RCV003461743;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832342	118832342		-
NM_000414.4(HSD17B4):c.972+1del	3295	HSD17B4	Likely pathogenic	-1	RCV003469858;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832342	118832342		-
NM_000414.4(HSD17B4):c.972+10A>G	3295	HSD17B4	Likely benign	1054681866	RCV001398640;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118832351	118832351	118832351	-
NM_000414.4(HSD17B4):c.972+15del	3295	HSD17B4	Benign	763801604	RCV002115717;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832351	118832351	118832350	-
NM_000414.4(HSD17B4):c.972+14A>G	3295	HSD17B4	Likely benign	-1	RCV002910141;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118832355	118832355	NC_000005.9:g.118832355A>G	-
NM_000414.4(HSD17B4):c.974_1209+1del	3295	HSD17B4	Pathogenic	1554065254	RCV000008093;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835010	118835246	5:g.118835010_118835108del	dbVar:nssv3761541,OMIM:601860.0002,ClinGen:CA118958	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.973-2A>C	3295	HSD17B4	Likely pathogenic	1057517118	RCV000411180;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835010	118835010	5:g.118835010A>C	ClinGen:CA16040966	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.981T>C (p.Ala327=)	3295	HSD17B4	Likely benign	2126780594	RCV001447912;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835020	118835020	118835020	-
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe)	3295	HSD17B4	Uncertain significance	370579120	RCV000731048\|RCV001061408\|RCV001155979\|RCV001155978\|RCV002536458;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400,Orp	5	118835033	118835033	NC_000005.9:g.118835033C>T	-
NM_000414.4(HSD17B4):c.1000C>T (p.Pro334Ser)	3295	HSD17B4	Uncertain significance	143750360	RCV001048998;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835039	118835039	5:g.118835039C>T	-
NM_000414.4(HSD17B4):c.1000C>G (p.Pro334Ala)	3295	HSD17B4	Uncertain significance	143750360	RCV001939752\|RCV002555631;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MeSH:D030342,MedGen:C0950123	5	118835039	118835039	118835039	-
NM_000414.4(HSD17B4):c.1001del (p.Pro334fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002306993;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835039	118835039	118835038	-
NM_000414.4(HSD17B4):c.1008T>A (p.Ser336=)	3295	HSD17B4	Likely benign	1580623756	RCV000968596;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835047	118835047	5:g.118835047T>A	-
NM_000414.4(HSD17B4):c.1011T>C (p.Tyr337=)	3295	HSD17B4	Likely benign	2126780725	RCV001480597;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835050	118835050	118835050	-
NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys)	3295	HSD17B4	Uncertain significance	2126780758	RCV001799545\|RCV003107853;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835055	118835055	118835055	-
NM_000414.4(HSD17B4):c.1017T>C (p.Tyr339=)	3295	HSD17B4	Likely benign	1750942728	RCV002089075;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835056	118835056	118835056	-
NM_000414.4(HSD17B4):c.1019C>T (p.Thr340Met)	3295	HSD17B4	Uncertain significance	201568834	RCV001878157;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835058	118835058	118835058	-
NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer)	3295	HSD17B4	Likely pathogenic	-1	RCV002306953;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835060	118835061	118835060	-
NM_000414.4(HSD17B4):c.1029A>G (p.Glu343=)	3295	HSD17B4	Likely benign	1212644115	RCV002081670;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835068	118835068	118835068	-
NM_000414.4(HSD17B4):c.1037T>C (p.Met346Thr)	3295	HSD17B4	Uncertain significance	-1	RCV003073135;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835076	118835076	NC_000005.9:g.118835076T>C	-
NM_000414.4(HSD17B4):c.1042G>A (p.Ala348Thr)	3295	HSD17B4	Uncertain significance	-1	RCV003060008;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835081	118835081	NC_000005.9:g.118835081G>A	-
NM_000414.4(HSD17B4):c.1058C>T (p.Ala353Val)	3295	HSD17B4	Uncertain significance	138560200	RCV000735036\|RCV002536531;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835097	118835097	NC_000005.9:g.118835097C>T	-
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=)	3295	HSD17B4	Benign	57972893	RCV000217612\|RCV000892227\|RCV001157687\|RCV001155980\|RCV001697177;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or	5	118835098	118835098	5:g.118835098G>A	ClinGen:CA3382079	CN169374 not specified;
NM_000414.4(HSD17B4):c.1065C>T (p.Ile355=)	3295	HSD17B4	Likely benign	2126780991	RCV002180502;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835104	118835104	118835104	-
NM_000414.4(HSD17B4):c.1067A>G (p.Lys356Arg)	3295	HSD17B4	Uncertain significance	-1	RCV002585113;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835106	118835106	NC_000005.9:g.118835106A>G	-
NM_000414.4(HSD17B4):c.1070A>T (p.Asp357Val)	3295	HSD17B4	Uncertain significance	-1	RCV002664122;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835109	118835109	NC_000005.9:g.118835109A>T	-
NM_000414.4(HSD17B4):c.1074A>G (p.Pro358=)	3295	HSD17B4	Likely benign	777971427	RCV001400339;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835113	118835113	118835113	-
NM_000414.4(HSD17B4):c.1078G>T (p.Asp360Tyr)	3295	HSD17B4	Uncertain significance	2126781071	RCV001875724;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835117	118835117	118835117	-
NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002306914;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835125	118835128	118835124	-
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val)	3295	HSD17B4	Uncertain significance	757346346	RCV000811657\|RCV001825623;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835129	118835129	5:g.118835129A>G	-
NM_000414.4(HSD17B4):c.1095T>C (p.Tyr365=)	3295	HSD17B4	Likely benign	1554065300	RCV000613431\|RCV002064229;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835134	118835134	5:g.118835134T>C	ClinGen:CA446219182	CN169374 not specified;
NM_000414.4(HSD17B4):c.1096G>A (p.Glu366Lys)	3295	HSD17B4	Uncertain significance	-1	RCV002301158;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835135	118835135	118835135	-
NM_000414.4(HSD17B4):c.1107T>C (p.Ser369=)	3295	HSD17B4	Likely benign	1485011447	RCV000676078\|RCV001440675;	N	MedGen:CN517202\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835146	118835146	NC_000005.9:g.118835146T>C	-	CN517202 not provided;
NM_000414.4(HSD17B4):c.1109A>T (p.Asp370Val)	3295	HSD17B4	Uncertain significance	-1	RCV002847440;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835148	118835148	NC_000005.9:g.118835148A>T	-
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe)	3295	HSD17B4	Likely pathogenic	1198548214	RCV002022920;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835154	118835154	118835154	-
NM_000414.4(HSD17B4):c.1117del (p.Cys373fs)	3295	HSD17B4	Pathogenic	-1	RCV002885189;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835156	118835156	NC_000005.9:g.118835156del	-
NM_000414.4(HSD17B4):c.1122G>A (p.Leu374=)	3295	HSD17B4	Likely benign	-1	RCV003070519\|RCV003434566;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900	5	118835161	118835161		-
NM_000414.4(HSD17B4):c.1125C>T (p.Pro375=)	3295	HSD17B4	Likely benign	2126781246	RCV001392319;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835164	118835164	118835164	-
NM_000414.4(HSD17B4):c.1128C>T (p.Thr376=)	3295	HSD17B4	Likely benign	769074996	RCV002123085;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835167	118835167	118835167	-
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	200347945	RCV000291054\|RCV000346085\|RCV000728584\|RCV001086922;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or	5	118835170	118835170	NC_000005.9:g.118835170C>T	ClinGen:CA3382094	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg)	3295	HSD17B4	Conflicting interpretations of pathogenicity	1006852881	RCV000730630\|RCV003225117;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835171	118835171	NC_000005.9:g.118835171G>A	-
NM_000414.4(HSD17B4):c.1134A>T (p.Gly378=)	3295	HSD17B4	Likely benign	1561463588	RCV002092016;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835173	118835173	118835173	-
NM_000414.4(HSD17B4):c.1135_1136insACTGTCTC (p.Val379fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002307867;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835174	118835175	118835174	-
NM_000414.4(HSD17B4):c.1136T>A (p.Val379Asp)	3295	HSD17B4	Uncertain significance	1750957000	RCV001961924;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835175	118835175	118835175	-
NM_000414.4(HSD17B4):c.1138A>G (p.Ile380Val)	3295	HSD17B4	Conflicting interpretations of pathogenicity	137946207	RCV000729881\|RCV002060984\|RCV003424313;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|	5	118835177	118835177	NC_000005.9:g.118835177A>G	-
NM_000414.4(HSD17B4):c.1140C>T (p.Ile380=)	3295	HSD17B4	Likely benign	2126781375	RCV001412409;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835179	118835179	118835179	-
NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter)	3295	HSD17B4	Pathogenic	1750958514	RCV001067576;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835186	118835186	5:g.118835186C>T	-
NM_000414.4(HSD17B4):c.1149G>A (p.Gln383=)	3295	HSD17B4	Likely benign	1258041380	RCV002182677;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835188	118835188	118835188	-
NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr)	3295	HSD17B4	Uncertain significance	1368714235	RCV000730332\|RCV001326111\|RCV001825459;	N	MedGen:CN517202\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835193	118835193	NC_000005.9:g.118835193C>A	-
NM_000414.4(HSD17B4):c.1155T>C (p.Ser385=)	3295	HSD17B4	Likely benign	370055428	RCV001434745\|RCV001831492;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835194	118835194	118835194	-
NM_000414.4(HSD17B4):c.1167A>T (p.Gly389=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	1340926346	RCV000731857\|RCV001409672;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835206	118835206	NC_000005.9:g.118835206A>T	-
NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter)	3295	HSD17B4	Pathogenic/Likely pathogenic	-1	RCV003026003\|RCV003340590;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835207	118835207	NC_000005.9:g.118835207G>T	-
NM_000414.4(HSD17B4):c.1177G>A (p.Glu393Lys)	3295	HSD17B4	Uncertain significance	-1	RCV002297483;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835216	118835216	118835216	-
NM_000414.4(HSD17B4):c.1180A>G (p.Ile394Val)	3295	HSD17B4	Uncertain significance	-1	RCV002638446;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835219	118835219	NC_000005.9:g.118835219A>G	-
NM_000414.4(HSD17B4):c.1181T>C (p.Ile394Thr)	3295	HSD17B4	Uncertain significance	-1	RCV002985636;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835220	118835220	NC_000005.9:g.118835220T>C	-
NM_000414.4(HSD17B4):c.1191T>C (p.Leu397=)	3295	HSD17B4	Likely benign	-1	RCV002863191;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835230	118835230		-
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro)	3295	HSD17B4	Benign	576803491	RCV000893427\|RCV001273797;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835231	118835231	5:g.118835231T>C	-
NM_000414.4(HSD17B4):c.1195A>G (p.Ile399Val)	3295	HSD17B4	Uncertain significance	-1	RCV002601654;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835234	118835234	NC_000005.9:g.118835234A>G	-
NM_000414.4(HSD17B4):c.1197C>T (p.Ile399=)	3295	HSD17B4	Likely benign	1750965480	RCV001500855;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835236	118835236	118835236	-
NM_000414.4(HSD17B4):c.1199A>G (p.Asn400Ser)	3295	HSD17B4	Likely benign	374161061	RCV002122143;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835238	118835238	118835238	-
NM_000414.4(HSD17B4):c.1200C>T (p.Asn400=)	3295	HSD17B4	Likely benign	1408334895	RCV002131949;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835239	118835239	118835239	-
NM_000414.4(HSD17B4):c.1204G>A (p.Ala402Thr)	3295	HSD17B4	Uncertain significance	780430704	RCV000733272\|RCV002536494;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835243	118835243	NC_000005.9:g.118835243G>A	-
NM_000414.4(HSD17B4):c.1209+5G>A	3295	HSD17B4	Uncertain significance	749753383	RCV001873888;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835253	118835253	118835253	-
NM_000414.4(HSD17B4):c.1209+5G>T	3295	HSD17B4	Uncertain significance	-1	RCV003078962;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118835253	118835253	NC_000005.9:g.118835253G>T	-
NM_000414.4(HSD17B4):c.1209+7C>G	3295	HSD17B4	Likely benign	755414935	RCV002182272;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835255	118835255	118835255	-
NM_000414.4(HSD17B4):c.1209+12A>G	3295	HSD17B4	Likely benign	779377798	RCV002007272;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118835260	118835260	118835260	-
NM_000414.4(HSD17B4):c.1210-78T>C	3295	HSD17B4	Benign	257969	RCV001543960\|RCV001543959\|RCV001694071;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900	5	118837658	118837658	118837658	-
NM_000414.4(HSD17B4):c.1210-17del	3295	HSD17B4	Benign	781059702	RCV002192492;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118837716	118837716	118837715	-
NM_000414.4(HSD17B4):c.1210-11C>G	3295	HSD17B4	Conflicting interpretations of pathogenicity	779466683	RCV000676080\|RCV001250119\|RCV003317335;	N	MedGen:C3661900\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118837725	118837725	NC_000005.9:g.118837725C>G	-	CN517202 not provided;
NM_000414.4(HSD17B4):c.1210-10C>T	3295	HSD17B4	Likely benign	529746859	RCV002207306;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118837726	118837726	118837726	-
NC_000005.9:g.(?_118837726)_(118837797_?)del	3295	HSD17B4	Pathogenic	-1	RCV003111181;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118837726	118837797		-
NM_000414.4(HSD17B4):c.1210-9C>T	3295	HSD17B4	Likely benign	748506604	RCV001983343;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118837727	118837727	118837727	-
NM_000414.4(HSD17B4):c.1210-8T>C	3295	HSD17B4	Conflicting interpretations of pathogenicity	34254740	RCV000219017\|RCV000729169\|RCV001082967\|RCV001157688\|RCV001157689;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721	5	118837728	118837728	5:g.118837728T>C	ClinGen:CA3382132	CN169374 not specified;
NM_000414.4(HSD17B4):c.1210-7A>G	3295	HSD17B4	Uncertain significance	1751214001	RCV001279113;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118837729	118837729	5:g.118837729A>G	-
NM_000414.4(HSD17B4):c.1212_1261+2del	3295	HSD17B4	Pathogenic	1554065670	RCV000008092;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118837734	118837785	5:g.118837734_118837785del	ClinGen:CA118957,dbVar:nssv3761557,OMIM:601860.0001	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1210-1G>A	3295	HSD17B4	Pathogenic/Likely pathogenic	1554065671	RCV000666626\|RCV001387366;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118837735	118837735	5:g.118837735G>A	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe)	3295	HSD17B4	Uncertain significance	746616691	RCV000626126\|RCV001157690\|RCV001860472\|RCV002529777\|RCV002483757;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MeSH:	5	118837739	118837739	NC_000005.9:g.118837739C>T	ClinGen:CA3382134	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)	3295	HSD17B4	Likely pathogenic	-1	RCV003469849;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118837740	118837740		-
NM_000414.4(HSD17B4):c.1221A>C (p.Gly407=)	3295	HSD17B4	Likely benign	2126790105	RCV002141983;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118837747	118837747	118837747	-
NM_000414.4(HSD17B4):c.1230C>G (p.Tyr410Ter)	3295	HSD17B4	Pathogenic	763891697	RCV002035453;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118837756	118837756	118837756	-
NM_000414.4(HSD17B4):c.1230C>T (p.Tyr410=)	3295	HSD17B4	Likely benign	763891697	RCV002108795;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118837756	118837756	118837756	-
NM_000414.4(HSD17B4):c.1231T>C (p.Leu411=)	3295	HSD17B4	Likely benign	1047935593	RCV002096235;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118837757	118837757	118837757	-
NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002309248;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118837757	118837758	118837756	-
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs)	3295	HSD17B4	Pathogenic/Likely pathogenic	2126790164	RCV001969747\|RCV003464273;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118837758	118837759	118837758	-
NM_000414.4(HSD17B4):c.1235_1236del (p.Glu412fs)	3295	HSD17B4	Pathogenic	2126790168	RCV001885523;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118837759	118837760	118837758	-
NM_000414.4(HSD17B4):c.1236G>A (p.Glu412=)	3295	HSD17B4	Likely benign	766602899	RCV002161211;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118837762	118837762	118837762	-
NM_000414.4(HSD17B4):c.1239A>G (p.Leu413=)	3295	HSD17B4	Likely benign	2126790204	RCV002076583;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118837765	118837765	118837765	-
NM_000414.4(HSD17B4):c.1240T>C (p.Tyr414His)	3295	HSD17B4	Uncertain significance	-1	RCV003063415;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118837766	118837766	NC_000005.9:g.118837766T>C	-
NM_000414.4(HSD17B4):c.1248A>G (p.Pro416=)	3295	HSD17B4	Likely benign	760174390	RCV001400298;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118837774	118837774	118837774	-
NM_000414.4(HSD17B4):c.1254C>T (p.Pro418=)	3295	HSD17B4	Likely benign	2126790236	RCV001464573;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118837780	118837780	118837780	-
NM_000414.4(HSD17B4):c.1261+8A>G	3295	HSD17B4	Likely benign	-1	RCV002599268;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118837795	118837795	NC_000005.9:g.118837795A>G	-
NM_000414.4(HSD17B4):c.1261+9T>C	3295	HSD17B4	Likely benign	753184910	RCV001486291;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118837796	118837796	118837796	-
NM_000414.4(HSD17B4):c.1261+14A>G	3295	HSD17B4	Likely benign	371682983	RCV000611783\|RCV000665117\|RCV002476350\|RCV002532743;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Orpha	5	118837801	118837801	5:g.118837801A>G	ClinGen:CA3382149	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1261+19A>T	3295	HSD17B4	Likely benign	-1	RCV002851011;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118837806	118837806	NC_000005.9:g.118837806A>T	-
NM_000414.4(HSD17B4):c.1261+47A>G	3295	HSD17B4	Benign	455949	RCV001543961\|RCV001543962\|RCV001713005;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900	5	118837834	118837834	118837834	-
NM_000414.4(HSD17B4):c.1262-10T>G	3295	HSD17B4	Likely benign	753171904	RCV001445178;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118842503	118842503	118842503	-
NM_000414.4(HSD17B4):c.1262-9T>C	3295	HSD17B4	Likely benign	1000944832	RCV002174513;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842504	118842504	118842504	-
NM_000414.4(HSD17B4):c.1262-8C>A	3295	HSD17B4	Likely benign	2126806391	RCV001453804;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842505	118842505	118842505	-
NM_000414.4(HSD17B4):c.1262-5dup	3295	HSD17B4	Likely benign	2126806405	RCV002154743;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842505	118842506	118842505	-
NM_000414.4(HSD17B4):c.1262-6T>G	3295	HSD17B4	Likely benign	-1	RCV002657771;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842507	118842507	NC_000005.9:g.118842507T>G	-
NM_000414.4(HSD17B4):c.1262-4C>G	3295	HSD17B4	Likely benign	2126806413	RCV002154744;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842509	118842509	118842509	-
NM_000414.4(HSD17B4):c.1262-4C>T	3295	HSD17B4	Likely benign	2126806413	RCV002138570;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842509	118842509	118842509	-
NM_000414.4(HSD17B4):c.1262-2A>G	3295	HSD17B4	Likely pathogenic	1751692890	RCV002050089;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842511	118842511	118842511	-
NM_000414.4(HSD17B4):c.1262-1G>A	3295	HSD17B4	Likely pathogenic	2126806430	RCV002011764;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118842512	118842512	118842512	-
NM_000414.4(HSD17B4):c.1262G>A (p.Gly421Glu)	3295	HSD17B4	Uncertain significance	139500402	RCV000596756\|RCV001860217;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118842513	118842513	5:g.118842513G>A	ClinGen:CA3382167	CN169374 not specified;
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	764406724	RCV001152210\|RCV001157691\|RCV002070846;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118842514	118842514	5:g.118842514A>G	-
NM_000414.4(HSD17B4):c.1267T>C (p.Leu423=)	3295	HSD17B4	Likely benign	-1	RCV003017366;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842518	118842518		-
NM_000414.4(HSD17B4):c.1268T>G (p.Leu423Ter)	3295	HSD17B4	Likely pathogenic	1057516735	RCV000412021;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842519	118842519	5:g.118842519T>G	ClinGen:CA16040967	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1269A>G (p.Leu423=)	3295	HSD17B4	Likely benign	2126806465	RCV002112314;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118842520	118842520	118842520	-
NM_000414.4(HSD17B4):c.1271A>G (p.Lys424Arg)	3295	HSD17B4	Uncertain significance	2126806471	RCV001991517;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118842522	118842522	118842522	-
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp)	3295	HSD17B4	Conflicting interpretations of pathogenicity	780820166	RCV000734721\|RCV001312383\|RCV002535390;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MeSH:D030342,MedGen:C0950123	5	118842529	118842529	NC_000005.9:g.118842529A>T	-
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)	3295	HSD17B4	Conflicting interpretations of pathogenicity	28943590	RCV000506112\|RCV000727234\|RCV001083581;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118842531	118842531	5:g.118842531C>T	ClinGen:CA3382172	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1281A>G (p.Ala427=)	3295	HSD17B4	Likely benign	-1	RCV002846502;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118842532	118842532		-
NM_000414.4(HSD17B4):c.1289C>A (p.Ala430Asp)	3295	HSD17B4	Uncertain significance	1282621174	RCV000731812\|RCV001855667;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118842540	118842540	NC_000005.9:g.118842540C>A	-
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs)	3295	HSD17B4	Likely pathogenic	1057517045	RCV000409513\|RCV002488840;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842549	118842552	NC_000005.9:g.118842551_118842554del	ClinGen:CA16040968	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1302T>C (p.Asp434=)	3295	HSD17B4	Likely benign	2126806596	RCV001438211;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118842553	118842553	118842553	-
NM_000414.4(HSD17B4):c.1305A>G (p.Lys435=)	3295	HSD17B4	Likely benign	1751697427	RCV002202308;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118842556	118842556	118842556	-
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	369449821	RCV000729345\|RCV001083920\|RCV001274461;	N	MedGen:CN517202\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842562	118842562	NC_000005.9:g.118842562C>T	-
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	771922933	RCV000727131\|RCV001087607\|RCV001829660;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842568	118842568	5:g.118842568A>G	ClinGen:CA3382179	CN169374 not specified;
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu)	3295	HSD17B4	Conflicting interpretations of pathogenicity	201767875	RCV000729746\|RCV001085833\|RCV001273798;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842578	118842578	NC_000005.9:g.118842578A>T	-
NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002308440;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842579	118842580	118842578	-
NM_000414.4(HSD17B4):c.1333+7T>G	3295	HSD17B4	Likely benign	-1	RCV002664020;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842591	118842591	NC_000005.9:g.118842591T>G	-
NM_000414.4(HSD17B4):c.1333+8A>C	3295	HSD17B4	Likely benign	1751701700	RCV002191288;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118842592	118842592	118842592	-
NM_000414.4(HSD17B4):c.1334-18C>T	3295	HSD17B4	Likely benign	777673978	RCV002122547;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844818	118844818	118844818	-
NM_000414.4(HSD17B4):c.1334-12_1334-9del	3295	HSD17B4	Likely benign	-1	RCV003039828;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844820	118844823	NC_000005.9:g.118844820TTTA[1]	-
NM_000414.4(HSD17B4):c.1334-4del	3295	HSD17B4	Benign	2126813978	RCV001522131;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844829	118844829	118844828	-
NM_000414.4(HSD17B4):c.1334-4T>A	3295	HSD17B4	Likely benign	2126813983	RCV001425750;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844832	118844832	118844832	-
NM_000414.4(HSD17B4):c.1334-2A>T	3295	HSD17B4	Likely pathogenic	1554066421	RCV000666159;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844834	118844834	5:g.118844834A>T	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1335C>A (p.Val445=)	3295	HSD17B4	Likely benign	749383778	RCV000982638;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844837	118844837	5:g.118844837C>A	-
NM_000414.4(HSD17B4):c.1337A>T (p.Tyr446Phe)	3295	HSD17B4	Uncertain significance	768553274	RCV001211600;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844839	118844839	5:g.118844839A>T	-
NM_000414.4(HSD17B4):c.1347T>C (p.Ser449=)	3295	HSD17B4	Likely benign	1374866979	RCV001466301;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844849	118844849	118844849	-
NM_000414.4(HSD17B4):c.1350G>A (p.Glu450=)	3295	HSD17B4	Likely benign	1308707943	RCV001406184;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844852	118844852	118844852	-
NM_000414.4(HSD17B4):c.1352del (p.Lys451fs)	3295	HSD17B4	Pathogenic	1751933402	RCV001059831;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844853	118844853	5:g.118844853_118844853del	-
NM_000414.4(HSD17B4):c.1352A>G (p.Lys451Arg)	3295	HSD17B4	Uncertain significance	-1	RCV003117075;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844854	118844854	NC_000005.9:g.118844854A>G	-
NM_000414.4(HSD17B4):c.1354G>C (p.Glu452Gln)	3295	HSD17B4	Uncertain significance	-1	RCV002760513;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844856	118844856	NC_000005.9:g.118844856G>C	-
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe)	3295	HSD17B4	Uncertain significance	372898042	RCV000311123\|RCV000401151\|RCV001037722;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844859	118844859	NC_000005.9:g.118844859C>T	ClinGen:CA3382212	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1361T>A (p.Ile454Lys)	3295	HSD17B4	Uncertain significance	-1	RCV002636948;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844863	118844863	NC_000005.9:g.118844863T>A	-
NM_000414.4(HSD17B4):c.1366C>G (p.His456Asp)	3295	HSD17B4	Uncertain significance	-1	RCV003050409;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844868	118844868	NC_000005.9:g.118844868C>G	-
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)	3295	HSD17B4	Pathogenic/Likely pathogenic	137853097	RCV000008095\|RCV000385297\|RCV000477799\|RCV000684773\|RCV001002204;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp	5	118844871	118844871	5:g.118844871A>T	ClinGen:CA118961,UniProtKB:P51659#VAR_065908,OMIM:601860.0004	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp)	3295	HSD17B4	Pathogenic/Likely pathogenic	137853097	RCV000410433\|RCV001387756;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844871	118844871	5:g.118844871A>G	ClinGen:CA3382214	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1370A>G (p.Asn457Ser)	3295	HSD17B4	Uncertain significance	-1	RCV003118601;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844872	118844872	NC_000005.9:g.118844872A>G	-
NM_000414.4(HSD17B4):c.1371T>C (p.Asn457=)	3295	HSD17B4	Likely benign	1381061831	RCV002075701;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844873	118844873	118844873	-
NM_000414.4(HSD17B4):c.1374G>A (p.Gln458=)	3295	HSD17B4	Likely benign	-1	RCV002770797;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844876	118844876		-
NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs)	3295	HSD17B4	Likely pathogenic	2126814260	RCV001782268\|RCV003464141;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844878	118844879	118844877	-
NM_000414.4(HSD17B4):c.1377C>T (p.Phe459=)	3295	HSD17B4	Likely benign	758382416	RCV002201278;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844879	118844879	118844879	-
NM_000414.4(HSD17B4):c.1383C>T (p.Leu461=)	3295	HSD17B4	Likely benign	2126814315	RCV001502653;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844885	118844885	118844885	-
NM_000414.4(HSD17B4):c.1388T>C (p.Leu463Pro)	3295	HSD17B4	Uncertain significance	2126814342	RCV001895065;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844890	118844890	118844890	-
NM_000414.4(HSD17B4):c.1398T>G (p.Ser466=)	3295	HSD17B4	Likely benign	746787900	RCV000914608\|RCV001788377;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:CN517202	5	118844900	118844900	5:g.118844900T>G	-
NM_000414.4(HSD17B4):c.1414_1416del (p.Lys472del)	3295	HSD17B4	Uncertain significance	1751942272	RCV001254892;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844915	118844917	5:g.118844915_118844917del	-
NM_000414.4(HSD17B4):c.1416A>G (p.Lys472=)	3295	HSD17B4	Likely benign	-1	RCV002837603;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844918	118844918		-
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp)	3295	HSD17B4	Uncertain significance	201455193	RCV000238819\|RCV000351976\|RCV000390048\|RCV000733383\|RCV000819185\|RCV002487109\|RCV002518512;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O	5	118844919	118844919	NC_000005.9:g.118844919C>T	ClinGen:CA3382222	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1417C>A (p.Arg473=)	3295	HSD17B4	Likely benign	201455193	RCV002135189;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844919	118844919	118844919	-
NM_000414.4(HSD17B4):c.1418G>A (p.Arg473Gln)	3295	HSD17B4	Uncertain significance	901553037	RCV000730852\|RCV001370270\|RCV001825463;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844920	118844920	NC_000005.9:g.118844920G>A	-
NM_000414.4(HSD17B4):c.1419G>T (p.Arg473=)	3295	HSD17B4	Likely benign	774382073	RCV001490785;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844921	118844921	118844921	-
NM_000414.4(HSD17B4):c.1422A>T (p.Thr474=)	3295	HSD17B4	Likely benign	-1	RCV003071785;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844924	118844924		-
NM_000414.4(HSD17B4):c.1424C>G (p.Ser475Ter)	3295	HSD17B4	Pathogenic	1751944228	RCV001208330;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118844926	118844926	5:g.118844926C>G	-
NM_000414.4(HSD17B4):c.1424C>T (p.Ser475Leu)	3295	HSD17B4	Uncertain significance	-1	RCV003028346;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844926	118844926	NC_000005.9:g.118844926C>T	-
NM_000414.4(HSD17B4):c.1426_1429del (p.Asp476fs)	3295	HSD17B4	Pathogenic	-1	RCV003046734;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844926	118844929	NC_000005.9:g.118844928_118844931del	-
NM_000414.4(HSD17B4):c.1425A>G (p.Ser475=)	3295	HSD17B4	Likely benign	-1	RCV002681196;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844927	118844927		-
NM_000414.4(HSD17B4):c.1434C>T (p.Val478=)	3295	HSD17B4	Likely benign	1239905170	RCV001447032;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844936	118844936	5:g.118844936C>T	-
NM_000414.4(HSD17B4):c.1436A>G (p.Lys479Arg)	3295	HSD17B4	Uncertain significance	1318841272	RCV001893770;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118844938	118844938	118844938	-
NC_000005.10:g.(?_119514971)_(119542004_?)del	3295	HSD17B4	Likely pathogenic	-1	RCV001032327;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118850666	118877699	-1	-
NM_000414.4(HSD17B4):c.1438-9T>G	3295	HSD17B4	Likely benign	2126834570	RCV001490744;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850667	118850667	118850667	-
NM_000414.4(HSD17B4):c.1438-6T>C	3295	HSD17B4	Likely benign	2126834578	RCV002215206;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850670	118850670	118850670	-
NM_000414.4(HSD17B4):c.1438-2A>C	3295	HSD17B4	Likely pathogenic	1057516273	RCV000410725\|RCV001861362;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118850674	118850674	NC_000005.9:g.118850674A>C	ClinGen:CA16040969	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1438-1G>A	3295	HSD17B4	Pathogenic/Likely pathogenic	1554067009	RCV000522030\|RCV002527583;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118850675	118850675	5:g.118850675G>A	ClinGen:CA360868886	CN517202 not provided;
NM_000414.4(HSD17B4):c.1438-1G>C	3295	HSD17B4	Likely pathogenic	-1	RCV002894873;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850675	118850675	NC_000005.9:g.118850675G>C	-
NM_000414.4(HSD17B4):c.1440_1441del (p.Ala481fs)	3295	HSD17B4	Likely pathogenic	1057516859	RCV000409302;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850678	118850679	NC_000005.9:g.118850678_118850679del	ClinGen:CA16040970	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1449C>T (p.Ala483=)	3295	HSD17B4	Likely benign	770218114	RCV001502844;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118850687	118850687	118850687	-
NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002309918;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850687	118850689	118850687	-
NM_000414.4(HSD17B4):c.1450A>G (p.Ile484Val)	3295	HSD17B4	Conflicting interpretations of pathogenicity	775297352	RCV000217040\|RCV001853413;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118850688	118850688	5:g.118850688A>G	ClinGen:CA3382274	CN169374 not specified;
NM_000414.4(HSD17B4):c.1452A>G (p.Ile484Met)	3295	HSD17B4	Uncertain significance	376158204	RCV000216767\|RCV001833205;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850690	118850690	NC_000005.9:g.118850690A>G	ClinGen:CA3382275	CN169374 not specified;
NM_000414.4(HSD17B4):c.1470T>C (p.Asp490=)	3295	HSD17B4	Likely benign	-1	RCV002670729;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850708	118850708		-
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)	3295	HSD17B4	Benign/Likely benign	28943591	RCV000175136\|RCV000224951\|RCV000298832\|RCV000353669\|RCV000509557\|RCV001084433;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,O	5	118850709	118850709	5:g.118850709G>A	ClinGen:CA201313,UniProtKB:P51659#VAR_052312	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002307860;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850710	118850711	118850709	-
NM_000414.4(HSD17B4):c.1480_1481insGA (p.Thr494fs)	3295	HSD17B4	Pathogenic	775060894	RCV001928878;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850717	118850718	118850717	-
NM_000414.4(HSD17B4):c.1480dup (p.Thr494fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002510740;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850717	118850718	NC_000005.9:g.118850718dup	-
NM_000414.4(HSD17B4):c.1482A>G (p.Thr494=)	3295	HSD17B4	Likely benign	-1	RCV003039626;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118850720	118850720		-
NM_000414.4(HSD17B4):c.1484A>T (p.Asp495Val)	3295	HSD17B4	Uncertain significance	755720085	RCV001966383;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850722	118850722	118850722	-
NM_000414.4(HSD17B4):c.1488del (p.Thr497fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002309214;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850725	118850725	118850724	-
NM_000414.4(HSD17B4):c.1490C>A (p.Thr497Asn)	3295	HSD17B4	Uncertain significance	-1	RCV003085101;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118850728	118850728	NC_000005.9:g.118850728C>A	-
NM_000414.4(HSD17B4):c.1491C>T (p.Thr497=)	3295	HSD17B4	Likely benign	1403761935	RCV001395942;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850729	118850729	118850729	-
NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002309757;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118850734	118850735	118850733	-
NM_000414.4(HSD17B4):c.1496T>G (p.Leu499Arg)	3295	HSD17B4	Uncertain significance	-1	RCV003022560;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850734	118850734	NC_000005.9:g.118850734T>G	-
NM_000414.4(HSD17B4):c.1499del (p.Asn500fs)	3295	HSD17B4	Pathogenic	2126834942	RCV001383665;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118850736	118850736	118850735	-
NM_000414.4(HSD17B4):c.1503+1G>A	3295	HSD17B4	Likely pathogenic	-1	RCV003461741;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850742	118850742		-
NM_000414.4(HSD17B4):c.1503+7T>C	3295	HSD17B4	Likely benign	1412638588	RCV002201582;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118850748	118850748	118850748	-
NM_000414.4(HSD17B4):c.1503+9G>A	3295	HSD17B4	Likely benign	764210806	RCV002217253;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850750	118850750	118850750	-
NM_000414.4(HSD17B4):c.1503+12T>G	3295	HSD17B4	Benign/Likely benign	111239597	RCV001544886\|RCV002071982;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118850753	118850753	118850753	-
NM_000414.4(HSD17B4):c.1504-11T>C	3295	HSD17B4	Likely benign	-1	RCV002619380;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118860900	118860900	NC_000005.9:g.118860900T>C	-
NM_000414.4(HSD17B4):c.1504-2A>C	3295	HSD17B4	Likely pathogenic	1554068134	RCV000664852;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118860909	118860909	5:g.118860909A>C	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1504-1G>A	3295	HSD17B4	Likely pathogenic	-1	RCV002842522;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118860910	118860910	NC_000005.9:g.118860910G>A	-
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)	3295	HSD17B4	Pathogenic/Likely pathogenic	766199971	RCV000590157\|RCV000763126\|RCV001220352\|RCV002260650\|RCV002530904;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO	5	118860923	118860923	5:g.118860923C>T	ClinGen:CA3382299	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)	3295	HSD17B4	Conflicting interpretations of pathogenicity	1554068136	RCV000670512;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118860924	118860924	5:g.118860924G>A	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1521C>T (p.Leu507=)	3295	HSD17B4	Likely benign	2126873440	RCV002134613;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118860928	118860928	118860928	-
NM_000414.4(HSD17B4):c.1527A>C (p.Gly509=)	3295	HSD17B4	Likely benign	2126873458	RCV002209567;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118860934	118860934	118860934	-
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn)	3295	HSD17B4	Conflicting interpretations of pathogenicity	191468413	RCV000414223\|RCV001314566;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118860935	118860935	5:g.118860935G>A	ClinGen:CA3382301	CN517202 not provided;
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg)	3295	HSD17B4	Benign	11539471	RCV000214252\|RCV000299859\|RCV000263505\|RCV000676082\|RCV001517002;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O	5	118860938	118860938	NC_000005.9:g.118860938T>C	UniProtKB:P51659#VAR_014873,ClinGen:CA3382302	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr)	3295	HSD17B4	Conflicting interpretations of pathogenicity	764300456	RCV001387757\|RCV001810508;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118860944	118860944	118860944	-
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu)	3295	HSD17B4	Uncertain significance	587777444	RCV000125467\|RCV000675096;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118860945	118860945	NC_000005.9:g.118860945C>T	ClinGen:CA163185,OMIM:601860.0012	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1542A>G (p.Leu514=)	3295	HSD17B4	Likely benign	2126873548	RCV001501190;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118860949	118860949	118860949	-
NM_000414.4(HSD17B4):c.1544A>G (p.His515Arg)	3295	HSD17B4	Likely pathogenic	1753477498	RCV001251043;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118860951	118860951	5:g.118860951A>G	-
NM_000414.4(HSD17B4):c.1545C>T (p.His515=)	3295	HSD17B4	Likely benign	751742258	RCV001426264;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118860952	118860952	118860952	-
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)	3295	HSD17B4	Pathogenic/Likely pathogenic	587777443	RCV000125466\|RCV000672665\|RCV000825530\|RCV001849905\|RCV003144135;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C5680250, Orphanet:96210\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OM	5	118860954	118860954	NC_000005.9:g.118860954T>C	ClinGen:CA163183,OMIM:601860.0011	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1552C>T (p.Pro518Ser)	3295	HSD17B4	Uncertain significance	757297524	RCV001246239\|RCV001835260;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118860959	118860959	5:g.118860959C>T	-
NM_000414.4(HSD17B4):c.1554T>C (p.Pro518=)	3295	HSD17B4	Likely benign	1263777745	RCV001411034;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118860961	118860961	118860961	-
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)	3295	HSD17B4	Conflicting interpretations of pathogenicity	184492796	RCV000217919\|RCV000264639\|RCV000359350\|RCV000906457\|RCV001580473;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp	5	118860973	118860973	NC_000005.9:g.118860973T>A	ClinGen:CA3382309	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1573+1G>T	3295	HSD17B4	Likely pathogenic	-1	RCV002872175;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118860981	118860981	NC_000005.9:g.118860981G>T	-
NM_000414.4(HSD17B4):c.1573+1G>A	3295	HSD17B4	Likely pathogenic	-1	RCV003469851;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118860981	118860981		-
NM_000414.4(HSD17B4):c.1573+8G>A	3295	HSD17B4	Likely benign	-1	RCV002592277;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118860988	118860988	NC_000005.9:g.118860988G>A	-
NM_000414.4(HSD17B4):c.1573+10C>G	3295	HSD17B4	Likely benign	2126873736	RCV002083419;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118860990	118860990	118860990	-
NM_000414.4(HSD17B4):c.1574-19G>A	3295	HSD17B4	Likely benign	371700181	RCV002106769;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118861593	118861593	118861593	-
NM_000414.4(HSD17B4):c.1574-16T>G	3295	HSD17B4	Likely benign	-1	RCV003075884;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118861596	118861596	NC_000005.9:g.118861596T>G	-
NM_000414.4(HSD17B4):c.1574-10C>T	3295	HSD17B4	Likely benign	1270877545	RCV001425045;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118861602	118861602	118861602	-
NM_000414.4(HSD17B4):c.1574-4C>T	3295	HSD17B4	Likely benign	2126876188	RCV002142966;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861608	118861608	118861608	-
NM_000414.4(HSD17B4):c.1574-1G>A	3295	HSD17B4	Likely pathogenic	755412738	RCV000411356\|RCV001865269;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118861611	118861611	NC_000005.9:g.118861611G>A	ClinGen:CA3382331	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1574G>T (p.Gly525Val)	3295	HSD17B4	Uncertain significance	1554068261	RCV000668019;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861612	118861612	5:g.118861612G>T	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1578del (p.Phe526fs)	3295	HSD17B4	Pathogenic	1561485663	RCV000706195;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861613	118861613	5:g.118861613_118861613del	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1575T>C (p.Gly525=)	3295	HSD17B4	Likely benign	2126876208	RCV002166946;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861613	118861613	118861613	-
NM_000414.4(HSD17B4):c.1586C>T (p.Pro529Leu)	3295	HSD17B4	Uncertain significance	1554068269	RCV000668914;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861624	118861624	5:g.118861624C>T	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg)	3295	HSD17B4	Conflicting interpretations of pathogenicity	1554068272	RCV000664831;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861633	118861633	5:g.118861633A>G	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1596T>C (p.His532=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	758045328	RCV000324422\|RCV000379389\|RCV000608795\|RCV000977055;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp	5	118861634	118861634	NC_000005.9:g.118861634T>C	ClinGen:CA3382336	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)	3295	HSD17B4	Likely pathogenic	-1	RCV002308315;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861635	118861635	118861635	-
NM_000414.4(HSD17B4):c.1599A>G (p.Gly533=)	3295	HSD17B4	Likely benign	146514789	RCV002165744;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861637	118861637	118861637	-
NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)	3295	HSD17B4	Likely pathogenic	-1	RCV002310476;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861643	118861643	118861643	-
NM_000414.4(HSD17B4):c.1623C>G (p.Ala541=)	3295	HSD17B4	Likely benign	1753557404	RCV001468235;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861661	118861661	118861661	-
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys)	3295	HSD17B4	Conflicting interpretations of pathogenicity	546653967	RCV000728776\|RCV001458298\|RCV003353008;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MeSH:D030342,MedGen:C0950123	5	118861663	118861663	NC_000005.9:g.118861663G>A	-
NM_000414.4(HSD17B4):c.1626G>A (p.Arg542=)	3295	HSD17B4	Likely benign	374499018	RCV001501462;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118861664	118861664	118861664	-
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs)	3295	HSD17B4	Pathogenic/Likely pathogenic	1057517323	RCV000410124\|RCV000802983;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861665	118861666	NC_000005.9:g.118861666GT[5]	ClinGen:CA16040971	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)	3295	HSD17B4	Conflicting interpretations of pathogenicity	201009485	RCV000125468\|RCV000730879\|RCV001849906\|RCV003467098;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or	5	118861666	118861666	NC_000005.9:g.118861666G>C	ClinGen:CA163187,OMIM:601860.0013	C0685838 233400 Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance;
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His)	3295	HSD17B4	Conflicting interpretations of pathogenicity	201009485	RCV000270907\|RCV000326000\|RCV001298354\|RCV002244837\|RCV002523497\|RCV003155169;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGe	5	118861666	118861666	NC_000005.9:g.118861666G>A	ClinGen:CA3382344	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1629T>C (p.Arg543=)	3295	HSD17B4	Likely benign	2126876453	RCV002086445;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861667	118861667	118861667	-
NM_000414.4(HSD17B4):c.1635dup (p.Gln546fs)	3295	HSD17B4	Likely pathogenic	-1	RCV003469843;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861672	118861673		-
NM_000414.4(HSD17B4):c.1636C>T (p.Gln546Ter)	3295	HSD17B4	Likely pathogenic	-1	RCV003469846;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861674	118861674		-
NM_000414.4(HSD17B4):c.1647A>G (p.Ala549=)	3295	HSD17B4	Likely benign	2126876484	RCV002071756;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861685	118861685	118861685	-
NM_000414.4(HSD17B4):c.1659_1660dup (p.Ser554fs)	3295	HSD17B4	Pathogenic	1753560558	RCV001221117;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118861693	118861694	5:g.118861693_118861694insTG	-
NM_000414.4(HSD17B4):c.1655A>T (p.Asp552Val)	3295	HSD17B4	Uncertain significance	1753560298	RCV001984176;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861693	118861693	118861693	-
NM_000414.4(HSD17B4):c.1657G>A (p.Val553Met)	3295	HSD17B4	Uncertain significance	149141475	RCV001883390;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861695	118861695	118861695	-
NM_000414.4(HSD17B4):c.1660T>C (p.Ser554Pro)	3295	HSD17B4	Uncertain significance	199659543	RCV001215117\|RCV001833876;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861698	118861698	5:g.118861698T>C	-
NM_000414.4(HSD17B4):c.1660_1661del (p.Ser554fs)	3295	HSD17B4	Likely pathogenic	-1	RCV002308155;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861698	118861699	118861697	-
NM_000414.4(HSD17B4):c.1663A>G (p.Arg555Gly)	3295	HSD17B4	Uncertain significance	561555159	RCV000604969\|RCV001829704\|RCV002529316;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MeSH:D030342,MedGen:C0950123	5	118861701	118861701	NC_000005.9:g.118861701A>G	ClinGen:CA125854233	CN169374 not specified;
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met)	3295	HSD17B4	Conflicting interpretations of pathogenicity	73790880	RCV000658286\|RCV001079376\|RCV001835757;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861708	118861708	5:g.118861708A>T	ClinGen:CA3382347	CN517202 not provided;
NM_000414.4(HSD17B4):c.1670A>C (p.Lys557Thr)	3295	HSD17B4	Benign	-1	RCV003072471;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118861708	118861708	NC_000005.9:g.118861708A>C	-
NM_000414.4(HSD17B4):c.1674A>T (p.Ala558=)	3295	HSD17B4	Likely benign	1007425510	RCV001456614;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861712	118861712	118861712	-
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val)	3295	HSD17B4	Benign	11205	RCV000221678\|RCV000290935\|RCV000385277\|RCV000676084\|RCV001517003;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O	5	118861713	118861713	5:g.118861713A>G	ClinGen:CA3382348,UniProtKB:P51659#VAR_014874	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1680G>C (p.Lys560Asn)	3295	HSD17B4	Uncertain significance	-1	RCV002801597;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861718	118861718	NC_000005.9:g.118861718G>C	-
NM_000414.4(HSD17B4):c.1680+7G>A	3295	HSD17B4	Likely benign	760053447	RCV001463816;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118861725	118861725	118861725	-
NM_000414.4(HSD17B4):c.1680+18C>T	3295	HSD17B4	Likely benign	372870480	RCV002202233;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118861736	118861736	118861736	-
NM_000414.4(HSD17B4):c.1681-15A>G	3295	HSD17B4	Likely benign	375327755	RCV002163443;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118862813	118862813	118862813	-
NM_000414.4(HSD17B4):c.1681-10T>C	3295	HSD17B4	Likely benign	2126880672	RCV002149461;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862818	118862818	118862818	-
NM_000414.4(HSD17B4):c.1681-9T>A	3295	HSD17B4	Likely benign	-1	RCV002903888;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862819	118862819	NC_000005.9:g.118862819T>A	-
NM_000414.4(HSD17B4):c.1681-5T>A	3295	HSD17B4	Likely benign	1045926538	RCV000940193;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862823	118862823	5:g.118862823T>A	-
NM_000414.4(HSD17B4):c.1681-1G>C	3295	HSD17B4	Likely pathogenic	-1	RCV003469857;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862827	118862827		-
NM_000414.4(HSD17B4):c.1681G>T (p.Ala561Ser)	3295	HSD17B4	Uncertain significance	-1	RCV002975938;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862828	118862828	NC_000005.9:g.118862828G>T	-
NM_000414.4(HSD17B4):c.1681G>C (p.Ala561Pro)	3295	HSD17B4	Uncertain significance	-1	RCV003337761;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862828	118862828		-
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	1239645507	RCV001156099\|RCV001156100\|RCV002558357;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862830	118862830	5:g.118862830T>C	-
NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His)	3295	HSD17B4	Conflicting interpretations of pathogenicity	35281104	RCV000595870\|RCV002532637\|RCV002532638;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118862832	118862832	5:g.118862832G>A	ClinGen:CA3382364	CN169374 not specified;
NM_000414.4(HSD17B4):c.1690_1691delinsCT (p.Ala564Leu)	3295	HSD17B4	Uncertain significance	-1	RCV002582507;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862837	118862838	NC_000005.9:g.118862837_118862838delinsCT	-
NM_000414.4(HSD17B4):c.1695A>G (p.Lys565=)	3295	HSD17B4	Likely benign	-1	RCV002765853;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118862842	118862842		-
NM_000414.4(HSD17B4):c.1698A>G (p.Pro566=)	3295	HSD17B4	Likely benign	1380019592	RCV002145740;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862845	118862845	118862845	-
NM_000414.4(HSD17B4):c.1699G>A (p.Val567Ile)	3295	HSD17B4	Uncertain significance	775795599	RCV002002098;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118862846	118862846	118862846	-
NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala)	3295	HSD17B4	Uncertain significance	763390035	RCV000795475\|RCV001274462\|RCV002537001;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MeSH:D030342,MedGen:C0950123	5	118862847	118862847	5:g.118862847T>C	-
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)	3295	HSD17B4	Pathogenic	1038744864	RCV000023153\|RCV000811384\|RCV001260323\|RCV001556667\|RCV002538095;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGe	5	118862851	118862851	5:g.118862851T>A	OMIM:601860.0009
NM_000414.4(HSD17B4):c.1708G>T (p.Gly570Ter)	3295	HSD17B4	Pathogenic	2126880873	RCV001935642;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118862855	118862855	118862855	-
NM_000414.4(HSD17B4):c.1710A>G (p.Gly570=)	3295	HSD17B4	Likely benign	751248561	RCV000980600;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862857	118862857	5:g.118862857A>G	-
NM_000414.4(HSD17B4):c.1713A>G (p.Gln571=)	3295	HSD17B4	Likely benign	1580700697	RCV000894255;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118862860	118862860	5:g.118862860A>G	-
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs)	3295	HSD17B4	Pathogenic/Likely pathogenic	1057516936	RCV000410138\|RCV001053495;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862862	118862863	5:g.118862862_118862863del	ClinGen:CA16040972	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1716T>C (p.Thr572=)	3295	HSD17B4	Likely benign	756875057	RCV001399382;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862863	118862863	118862863	-
NM_000414.4(HSD17B4):c.1719A>G (p.Leu573=)	3295	HSD17B4	Likely benign	-1	RCV002760315;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118862866	118862866		-
NM_000414.4(HSD17B4):c.1724C>G (p.Thr575Ser)	3295	HSD17B4	Uncertain significance	-1	RCV002571651;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118862871	118862871	NC_000005.9:g.118862871C>G	-
NM_000414.4(HSD17B4):c.1725T>G (p.Thr575=)	3295	HSD17B4	Likely benign	-1	RCV003076867;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118862872	118862872		-
NM_000414.4(HSD17B4):c.1736del (p.Lys579fs)	3295	HSD17B4	Likely pathogenic	-1	RCV003469852;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862882	118862882		-
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs)	3295	HSD17B4	Pathogenic/Likely pathogenic	1554068426	RCV000670247\|RCV001387832;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118862894	118862895	5:g.118862894_118862895del	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1759C>G (p.Gln587Glu)	3295	HSD17B4	Uncertain significance	138507337	RCV001941132\|RCV003149008;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900	5	118862906	118862906	118862906	-
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn)	3295	HSD17B4	Conflicting interpretations of pathogenicity	142527052	RCV001243241\|RCV001536361;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900	5	118862914	118862914	5:g.118862914G>T	-
NM_000414.4(HSD17B4):c.1767+5G>A	3295	HSD17B4	Uncertain significance	1753684353	RCV001906219;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118862919	118862919	118862919	-
NM_000414.4(HSD17B4):c.1767+7A>G	3295	HSD17B4	Likely benign	2126881188	RCV001473889;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118862921	118862921	118862921	-
NM_000414.4(HSD17B4):c.1767+8T>C	3295	HSD17B4	Benign/Likely benign	190659146	RCV000176034\|RCV000350538\|RCV000386369\|RCV000676085\|RCV001080069;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O	5	118862922	118862922	5:g.118862922T>C	ClinGen:CA201765	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1767+14T>G	3295	HSD17B4	Likely benign	1233318059	RCV002174990;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118862928	118862928	118862928	-
NM_000414.4(HSD17B4):c.1767+57C>T	3295	HSD17B4	Benign	2636961	RCV001543716\|RCV001543717\|RCV001685474;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900	5	118862971	118862971	118862971	-
NM_000414.4(HSD17B4):c.1768-19T>G	3295	HSD17B4	Likely benign	542422357	RCV002088070;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118865570	118865570	118865570	-
NM_000414.4(HSD17B4):c.1768-17T>A	3295	HSD17B4	Likely benign	946545338	RCV002142349;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865572	118865572	118865572	-
NM_000414.4(HSD17B4):c.1768-15T>C	3295	HSD17B4	Likely benign	-1	RCV002786165;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865574	118865574	NC_000005.9:g.118865574T>C	-
NM_000414.4(HSD17B4):c.1768-6_1768-4del	3295	HSD17B4	Conflicting interpretations of pathogenicity	755128532	RCV000729868\|RCV001447459;	N	MedGen:CN517202\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865578	118865580	NC_000005.9:g.118865580CCT[1]	-
NC_000005.9:g.(?_118865579)_(118867109_?)del	3295	HSD17B4	Pathogenic	-1	RCV001389111;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865579	118867109	-1	-
NM_000414.4(HSD17B4):c.1768-10_1768-9delinsCT	3295	HSD17B4	Likely benign	2126889511	RCV001424133;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118865579	118865580	118865579	-
NM_000414.4(HSD17B4):c.1768-9C>T	3295	HSD17B4	Likely benign	1338480210	RCV000981383;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865580	118865580	5:g.118865580C>T	-
NM_000414.4(HSD17B4):c.1768-5C>T	3295	HSD17B4	Likely benign	2126889561	RCV001501590;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118865584	118865584	118865584	-
NM_000414.4(HSD17B4):c.1768-1G>A	3295	HSD17B4	Pathogenic/Likely pathogenic	-1	RCV003155657;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865588	118865588		-
NM_000414.4(HSD17B4):c.1773A>G (p.Gln591=)	3295	HSD17B4	Likely benign	752533944	RCV001913285;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118865594	118865594	118865594	-
NM_000414.4(HSD17B4):c.1785C>T (p.Asp595=)	3295	HSD17B4	Likely benign	781491742	RCV002205037;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118865606	118865606	118865606	-
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=)	3295	HSD17B4	Benign	2560722	RCV000213396\|RCV000296714\|RCV000335535\|RCV000676086\|RCV001084092;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O	5	118865612	118865612	NC_000005.9:g.118865612C>T	ClinGen:CA3382404	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1804T>C (p.Tyr602His)	3295	HSD17B4	Uncertain significance	-1	RCV003091967;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118865625	118865625	NC_000005.9:g.118865625T>C	-
NM_000414.4(HSD17B4):c.1805A>G (p.Tyr602Cys)	3295	HSD17B4	Uncertain significance	-1	RCV003079829;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865626	118865626	NC_000005.9:g.118865626A>G	-
NM_000414.4(HSD17B4):c.1806T>C (p.Tyr602=)	3295	HSD17B4	Likely benign	2126889740	RCV001424917;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118865627	118865627	118865627	-
NM_000414.4(HSD17B4):c.1809G>A (p.Val603=)	3295	HSD17B4	Likely benign	1279792063	RCV001195196\|RCV001859175;	N	MedGen:CN169374\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865630	118865630	5:g.118865630G>A	-
NM_000414.4(HSD17B4):c.1818A>T (p.Ala606=)	3295	HSD17B4	Likely benign	-1	RCV002972267;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118865639	118865639		-
NM_000414.4(HSD17B4):c.1819C>T (p.Pro607Ser)	3295	HSD17B4	Uncertain significance	-1	RCV002585911;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118865640	118865640	NC_000005.9:g.118865640C>T	-
NM_000414.4(HSD17B4):c.1824A>T (p.Thr608=)	3295	HSD17B4	Likely benign	1307922864	RCV002146854;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118865645	118865645	118865645	-
NM_000414.4(HSD17B4):c.1833T>C (p.Thr611=)	3295	HSD17B4	Likely benign	765961638	RCV001448058;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118865654	118865654	118865654	-
NM_000414.4(HSD17B4):c.1836A>G (p.Ser612=)	3295	HSD17B4	Likely benign	2126889891	RCV001441479;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865657	118865657	118865657	-
NM_000414.4(HSD17B4):c.1848C>G (p.Pro616=)	3295	HSD17B4	Likely benign	369575384	RCV001475235;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865669	118865669	118865669	-
NM_000414.4(HSD17B4):c.1848C>T (p.Pro616=)	3295	HSD17B4	Likely benign	-1	RCV002676672;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118865669	118865669		-
NM_000414.4(HSD17B4):c.1854+2T>C	3295	HSD17B4	Likely pathogenic	-1	RCV003469848;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865677	118865677		-
NM_000414.4(HSD17B4):c.1854+7T>C	3295	HSD17B4	Uncertain significance	886059822	RCV000300470\|RCV000400714;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865682	118865682	NC_000005.9:g.118865682T>C	ClinGen:CA10618809	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1854+12A>G	3295	HSD17B4	Likely benign	1753922633	RCV002196467;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865687	118865687	118865687	-
NM_000414.4(HSD17B4):c.1854+14A>C	3295	HSD17B4	Likely benign	-1	RCV002659662;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865689	118865689	NC_000005.9:g.118865689A>C	-
NM_000414.4(HSD17B4):c.1854+15T>A	3295	HSD17B4	Likely benign	-1	RCV002786360;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118865690	118865690	NC_000005.9:g.118865690T>A	-
NM_000414.4(HSD17B4):c.1855-9_1855-7del	3295	HSD17B4	Conflicting interpretations of pathogenicity	1440146478	RCV000729740\|RCV001414881;	N	MedGen:CN517202\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118866950	118866952	NC_000005.9:g.118866952_118866954del	-
NM_000414.4(HSD17B4):c.1855-9C>T	3295	HSD17B4	Likely benign	755078463	RCV001473043;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118866952	118866952	118866952	-
NM_000414.4(HSD17B4):c.1855-8G>A	3295	HSD17B4	Conflicting interpretations of pathogenicity	369600555	RCV000728758\|RCV001428259;	N	MedGen:CN517202\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118866953	118866953	NC_000005.9:g.118866953G>A	-
NM_000414.4(HSD17B4):c.1855-6T>C	3295	HSD17B4	Likely benign	748702095	RCV001479742;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118866955	118866955	118866955	-
NM_000414.4(HSD17B4):c.1857C>T (p.Gly619=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	368565759	RCV000733395\|RCV001309747\|RCV001830634;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118866963	118866963	NC_000005.9:g.118866963C>T	-
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg)	3295	HSD17B4	Uncertain significance	778265488	RCV000601251\|RCV000729571\|RCV001860249\|RCV001834928\|RCV002506453;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870	5	118866964	118866964	NC_000005.9:g.118866964G>A	ClinGen:CA3382446	CN169374 not specified;
NM_000414.4(HSD17B4):c.1860G>A (p.Gly620=)	3295	HSD17B4	Likely benign	-1	RCV002846484;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118866966	118866966		-
NM_000414.4(HSD17B4):c.1866T>G (p.Leu622=)	3295	HSD17B4	Likely benign	2126896081	RCV002167460;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118866972	118866972	118866972	-
NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=)	3295	HSD17B4	Likely benign	745478996	RCV000983424\|RCV001273799\|RCV001449840;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:CN169374	5	118866981	118866981	5:g.118866981C>G	-
NM_000414.4(HSD17B4):c.1875C>T (p.Thr625=)	3295	HSD17B4	Likely benign	745478996	RCV001506852;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118866981	118866981	118866981	-
NM_000414.4(HSD17B4):c.1876T>G (p.Phe626Val)	3295	HSD17B4	Uncertain significance	1385683079	RCV001563844\|RCV001563845;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118866982	118866982	118866982	-
NM_000414.4(HSD17B4):c.1878T>C (p.Phe626=)	3295	HSD17B4	Likely benign	2126896176	RCV001490749;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118866984	118866984	118866984	-
NM_000414.4(HSD17B4):c.1881A>G (p.Val627=)	3295	HSD17B4	Likely benign	201053163	RCV001279114\|RCV002537831;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118866987	118866987	5:g.118866987A>G	-
NM_000414.4(HSD17B4):c.1885G>C (p.Glu629Gln)	3295	HSD17B4	Uncertain significance	-1	RCV003078390\|RCV003078391;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118866991	118866991	NC_000005.9:g.118866991G>C	-
NM_000414.4(HSD17B4):c.1898G>A (p.Arg633His)	3295	HSD17B4	Uncertain significance	754096002	RCV001908967;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118867004	118867004	118867004	-
NM_000414.4(HSD17B4):c.1901G>A (p.Arg634His)	3295	HSD17B4	Conflicting interpretations of pathogenicity	-1	RCV002633994\|RCV002633993;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867007	118867007	NC_000005.9:g.118867007G>A	-
NM_000414.4(HSD17B4):c.1902C>T (p.Arg634=)	3295	HSD17B4	Likely benign	1017592892	RCV002129440;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867008	118867008	118867008	-
NM_000414.4(HSD17B4):c.1902C>A (p.Arg634=)	3295	HSD17B4	Likely benign	-1	RCV002750231;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118867008	118867008		-
NM_000414.4(HSD17B4):c.1907del (p.Lys636fs)	3295	HSD17B4	Likely pathogenic	1057516312	RCV000409725;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867011	118867011	5:g.118867011_118867011del	ClinGen:CA16040973	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1905A>T (p.Leu635=)	3295	HSD17B4	Likely benign	758434548	RCV001394524;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867011	118867011	5:g.118867011A>T	-
NM_000414.4(HSD17B4):c.1905A>G (p.Leu635=)	3295	HSD17B4	Likely benign	-1	RCV002580345;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118867011	118867011		-
NM_000414.4(HSD17B4):c.1908G>A (p.Lys636=)	3295	HSD17B4	Likely benign	1430676057	RCV002091783;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118867014	118867014	118867014	-
NM_000414.4(HSD17B4):c.1914T>A (p.Ile638=)	3295	HSD17B4	Likely benign	1580711431	RCV001423003;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867020	118867020	5:g.118867020T>A	-
NM_000414.4(HSD17B4):c.1917G>A (p.Gly639=)	3295	HSD17B4	Likely benign	2126896399	RCV001423561;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118867023	118867023	118867023	-
NM_000414.4(HSD17B4):c.1921G>T (p.Glu641Ter)	3295	HSD17B4	Pathogenic	1754083341	RCV001383934;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118867027	118867027	118867027	-
NM_000414.4(HSD17B4):c.1926G>T (p.Val642=)	3295	HSD17B4	Likely benign	1182381795	RCV001440168;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867032	118867032	118867032	-
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	148189286	RCV000762156\|RCV001089341\|RCV001157788\|RCV001157789;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515,Or	5	118867035	118867035	NC_000005.9:g.118867035G>A	-
NM_000414.4(HSD17B4):c.1936_1940del (p.Val646fs)	3295	HSD17B4	Likely pathogenic	1057517152	RCV000411080;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867039	118867043	NC_000005.9:g.118867042_118867046del	ClinGen:CA16040974
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr)	3295	HSD17B4	Uncertain significance	368915056	RCV001157791\|RCV001157790;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118867040	118867040	5:g.118867040A>C	-
NM_000414.4(HSD17B4):c.1945G>A (p.Val649Ile)	3295	HSD17B4	Uncertain significance	-1	RCV002663464;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118867051	118867051	NC_000005.9:g.118867051G>A	-
NM_000414.4(HSD17B4):c.1947A>G (p.Val649=)	3295	HSD17B4	Likely benign	769560045	RCV002146654;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867053	118867053	118867053	-
NM_000414.4(HSD17B4):c.1951G>T (p.Glu651Ter)	3295	HSD17B4	Pathogenic	1754087713	RCV001388343;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118867057	118867057	118867057	-
NM_000414.4(HSD17B4):c.1954_1970del (p.Trp652fs)	3295	HSD17B4	Pathogenic	2126896587	RCV002012201;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118867059	118867075	118867058	-
NM_000414.4(HSD17B4):c.1956G>A (p.Trp652Ter)	3295	HSD17B4	Pathogenic	-1	RCV002834504;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867062	118867062	NC_000005.9:g.118867062G>A	-
NM_000414.4(HSD17B4):c.1958A>G (p.His653Arg)	3295	HSD17B4	Uncertain significance	-1	RCV002592058\|RCV003328714\|RCV003250790;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	118867064	118867064	NC_000005.9:g.118867064A>G	-
NM_000414.4(HSD17B4):c.1965C>G (p.Thr655=)	3295	HSD17B4	Likely benign	546307544	RCV002202020;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118867071	118867071	118867071	-
NM_000414.4(HSD17B4):c.1965C>T (p.Thr655=)	3295	HSD17B4	Likely benign	546307544	RCV002086894;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118867071	118867071	118867071	-
NM_000414.4(HSD17B4):c.1970G>A (p.Gly657Asp)	3295	HSD17B4	Uncertain significance	141219265	RCV001895120;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867076	118867076	118867076	-
NM_000414.4(HSD17B4):c.1971C>T (p.Gly657=)	3295	HSD17B4	Likely benign	776519991	RCV001564479\|RCV002573187;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867077	118867077	118867077	-
NM_000414.4(HSD17B4):c.1971C>A (p.Gly657=)	3295	HSD17B4	Likely benign	776519991	RCV002203958;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867077	118867077	118867077	-
NM_000414.4(HSD17B4):c.1973del (p.Gly658fs)	3295	HSD17B4	Likely pathogenic	-1	RCV003469862;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867078	118867078		-
NM_000414.4(HSD17B4):c.1977T>C (p.Asn659=)	3295	HSD17B4	Likely benign	146212267	RCV001461414;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867083	118867083	118867083	-
NM_000414.4(HSD17B4):c.1984del (p.Ala662fs)	3295	HSD17B4	Pathogenic	2126896727	RCV001808897;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867087	118867087	118867086	-
NM_000414.4(HSD17B4):c.1983G>A (p.Gly661=)	3295	HSD17B4	Likely benign	2126896730	RCV002220475;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867089	118867089	118867089	-
NM_000414.4(HSD17B4):c.1986del (p.Lys663fs)	3295	HSD17B4	Pathogenic	-1	RCV002806716;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867092	118867092	NC_000005.9:g.118867092del	-
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys)	3295	HSD17B4	Uncertain significance	752858179	RCV000756251\|RCV001835947\|RCV002533784\|RCV003155302;	N	MedGen:CN517202\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MedGen:CN169374	5	118867098	118867098	NC_000005.9:g.118867098G>C	-
NM_000414.4(HSD17B4):c.1993+1G>A	3295	HSD17B4	Pathogenic	1580711803	RCV000987593;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867100	118867100	5:g.118867100G>A	-
NM_000414.4(HSD17B4):c.1993+2T>G	3295	HSD17B4	Likely pathogenic	1554068960	RCV000673786;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118867101	118867101	5:g.118867101T>G	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1993+74G>C	3295	HSD17B4	Benign	17145464	RCV001543718\|RCV001543719\|RCV001694065;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900	5	118867173	118867173	118867173	-
NM_000414.4(HSD17B4):c.1994-9T>G	3295	HSD17B4	Likely benign	-1	RCV003107261;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118872109	118872109	NC_000005.9:g.118872109T>G	-
NM_000414.4(HSD17B4):c.1994-5C>G	3295	HSD17B4	Likely benign	-1	RCV003038590;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118872113	118872113	NC_000005.9:g.118872113C>G	-
NM_000414.4(HSD17B4):c.1994-4C>T	3295	HSD17B4	Likely benign	1331852613	RCV002105383;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872114	118872114	118872114	-
NM_000414.4(HSD17B4):c.1994-2A>G	3295	HSD17B4	Likely pathogenic	1554069592	RCV000669367;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872116	118872116	5:g.118872116A>G	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.1994-1G>C	3295	HSD17B4	Likely pathogenic	-1	RCV003447856;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872117	118872117		-
NM_000414.4(HSD17B4):c.1994-1G>A	3295	HSD17B4	Likely pathogenic	-1	RCV003469856;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872117	118872117		-
NM_000414.4(HSD17B4):c.2011G>C (p.Gly671Arg)	3295	HSD17B4	Uncertain significance	-1	RCV002971144;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872135	118872135	NC_000005.9:g.118872135G>C	-
NM_000414.4(HSD17B4):c.2019A>C (p.Gly673=)	3295	HSD17B4	Likely benign	2126915535	RCV002147306;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118872143	118872143	118872143	-
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=)	3295	HSD17B4	Conflicting interpretations of pathogenicity	763204818	RCV000336683\|RCV000401438\|RCV001407465;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118872149	118872149	NC_000005.9:g.118872149G>A	ClinGen:CA3382496	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter)	3295	HSD17B4	Pathogenic/Likely pathogenic	751646311	RCV000666888\|RCV000805184\|RCV001784241;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:CN517202	5	118872153	118872153	NC_000005.9:g.118872153C>T	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2032G>A (p.Gly678Ser)	3295	HSD17B4	Uncertain significance	-1	RCV003069588;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872156	118872156	NC_000005.9:g.118872156G>A	-
NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp)	3295	HSD17B4	Uncertain significance	1456658488	RCV001152311\|RCV001157792;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872157	118872157	5:g.118872157G>A	-
NM_000414.4(HSD17B4):c.2040A>G (p.Ala680=)	3295	HSD17B4	Likely benign	2126915676	RCV002094384;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118872164	118872164	118872164	-
NM_000414.4(HSD17B4):c.2041A>G (p.Lys681Glu)	3295	HSD17B4	Conflicting interpretations of pathogenicity	139348491	RCV000730276\|RCV002535148;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872165	118872165	NC_000005.9:g.118872165A>G	-
NM_000414.4(HSD17B4):c.2045G>A (p.Gly682Asp)	3295	HSD17B4	Uncertain significance	-1	RCV002599289;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118872169	118872169	NC_000005.9:g.118872169G>A	-
NM_000414.4(HSD17B4):c.2059del (p.Thr687fs)	3295	HSD17B4	Likely pathogenic	-1	RCV003469855;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872182	118872182		-
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile)	3295	HSD17B4	Benign	28943592	RCV000218324\|RCV000301707\|RCV000361158\|RCV000966445\|RCV001079319\|RCV002494555;	N	MedGen:CN169374\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O	5	118872184	118872184	5:g.118872184C>T	ClinGen:CA3382504,UniProtKB:P51659#VAR_052314	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2061A>G (p.Thr687=)	3295	HSD17B4	Likely benign	1754550519	RCV001481681;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872185	118872185	118872185	-
NM_000414.4(HSD17B4):c.2065A>G (p.Ile689Val)	3295	HSD17B4	Uncertain significance	-1	RCV002853429;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872189	118872189	NC_000005.9:g.118872189A>G	-
NM_000414.4(HSD17B4):c.2071dup (p.Ser691fs)	3295	HSD17B4	Likely pathogenic	-1	RCV003469853;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872192	118872193		-
NM_000414.4(HSD17B4):c.2072C>G (p.Ser691Ter)	3295	HSD17B4	Likely pathogenic	-1	RCV003469845;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872196	118872196		-
NM_000414.4(HSD17B4):c.2075A>G (p.Asp692Gly)	3295	HSD17B4	Uncertain significance	2126915869	RCV001973822;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872199	118872199	118872199	-
NM_000414.4(HSD17B4):c.2097C>T (p.Val699=)	3295	HSD17B4	Likely benign	202134940	RCV001435092;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118872221	118872221	118872221	-
NM_000414.4(HSD17B4):c.2106G>T (p.Lys702Asn)	3295	HSD17B4	Uncertain significance	-1	RCV002574037;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118872230	118872230	NC_000005.9:g.118872230G>T	-
NM_000414.4(HSD17B4):c.2109T>A (p.Leu703=)	3295	HSD17B4	Likely benign	2126916051	RCV002141830;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118872233	118872233	118872233	-
NM_000414.4(HSD17B4):c.2112C>A (p.Asp704Glu)	3295	HSD17B4	Uncertain significance	-1	RCV002926989;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872236	118872236	NC_000005.9:g.118872236C>A	-
NM_000414.4(HSD17B4):c.2115T>C (p.Pro705=)	3295	HSD17B4	Likely benign	2126916088	RCV001442470;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872239	118872239	118872239	-
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)	3295	HSD17B4	Conflicting interpretations of pathogenicity	771510541	RCV000671728\|RCV001644761;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118872240	118872240	5:g.118872240C>T	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2121+1G>C	3295	HSD17B4	Likely pathogenic	1554069610	RCV000668572;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872246	118872246	5:g.118872246G>C	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2121+1G>A	3295	HSD17B4	Likely pathogenic	-1	RCV003469860;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118872246	118872246		-
NM_000414.4(HSD17B4):c.2121+7T>C	3295	HSD17B4	Likely benign	876657477	RCV000220009\|RCV002515622;	N	MedGen:CN169374\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118872252	118872252	NC_000005.9:g.118872252T>C	ClinGen:CA10576644	CN169374 not specified;
NM_000414.4(HSD17B4):c.2121+9C>T	3295	HSD17B4	Likely benign	1438030278	RCV002102405;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118872254	118872254	118872254	-
NM_000414.4(HSD17B4):c.2121+19C>A	3295	HSD17B4	Likely benign	-1	RCV003093200;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118872264	118872264	NC_000005.9:g.118872264C>A	-
NM_000414.4(HSD17B4):c.2122-34C>T	3295	HSD17B4	Benign	28943593	RCV001536466\|RCV001543720\|RCV001543721;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118877566	118877566	118877566	-
NC_000005.9:g.(?_118877580)_(118877689_?)del	3295	HSD17B4	Uncertain significance	-1	RCV003111182;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877580	118877689		-
NM_000414.4(HSD17B4):c.2122-16C>T	3295	HSD17B4	Likely benign	199680208	RCV002077053;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877584	118877584	118877584	-
NM_000414.4(HSD17B4):c.2122-13C>T	3295	HSD17B4	Likely benign	-1	RCV002639738;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877587	118877587	NC_000005.9:g.118877587C>T	-
NM_000414.4(HSD17B4):c.2122-9T>C	3295	HSD17B4	Likely benign	573283226	RCV000938486\|RCV001274332;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877591	118877591	5:g.118877591T>C	-
NM_000414.4(HSD17B4):c.2122-6T>G	3295	HSD17B4	Likely benign	1370505129	RCV002116982;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877594	118877594	118877594	-
NM_000414.4(HSD17B4):c.2122-4G>C	3295	HSD17B4	Likely benign	745684382	RCV001422196;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877596	118877596	118877596	-
NM_000414.4(HSD17B4):c.2122-2A>G	3295	HSD17B4	Uncertain significance	1341761252	RCV000668310;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877598	118877598	5:g.118877598A>G	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2130dup (p.Ser711Ter)	3295	HSD17B4	Uncertain significance	1554070146	RCV000672090;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877605	118877606	5:g.118877605_118877606insT	-	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2127C>G (p.Phe709Leu)	3295	HSD17B4	Uncertain significance	541911825	RCV001897120;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118877605	118877605	118877605	-
NM_000414.4(HSD17B4):c.2135G>A (p.Gly712Asp)	3295	HSD17B4	Uncertain significance	-1	RCV003011505;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877613	118877613	NC_000005.9:g.118877613G>A	-
NM_000414.4(HSD17B4):c.2138G>A (p.Arg713Lys)	3295	HSD17B4	Uncertain significance	149776885	RCV001310858\|RCV002543564;	N	MedGen:C3661900\|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877616	118877616	118877616	-
NM_000414.4(HSD17B4):c.2151A>G (p.Arg717=)	3295	HSD17B4	Likely benign	2126934635	RCV001431207;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118877629	118877629	118877629	-
NM_000414.4(HSD17B4):c.2163G>A (p.Met721Ile)	3295	HSD17B4	Uncertain significance	2126934715	RCV002049650;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118877641	118877641	118877641	-
NM_000414.4(HSD17B4):c.2172G>A (p.Gln724=)	3295	HSD17B4	Likely benign	2126934732	RCV001488691;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118877650	118877650	118877650	-
NM_000414.4(HSD17B4):c.2175A>G (p.Lys725=)	3295	HSD17B4	Likely benign	-1	RCV002797073;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118877653	118877653		-
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)	3295	HSD17B4	Conflicting interpretations of pathogenicity	145728297	RCV000401079\|RCV002227469\|RCV002518987;	N	MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp	5	118877654	118877654	5:g.118877654C>G	ClinGen:CA3382536	CN169374 not specified;
NM_000414.4(HSD17B4):c.2180A>G (p.Gln727Arg)	3295	HSD17B4	Uncertain significance	766910805	RCV001919285;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118877658	118877658	118877658	-
NM_000414.4(HSD17B4):c.2181G>C (p.Gln727His)	3295	HSD17B4	Uncertain significance	776945690	RCV001897345;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855	5	118877659	118877659	118877659	-
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val)	3295	HSD17B4	Benign	28943594	RCV000221985\|RCV000268330\|RCV000307098\|RCV000676087\|RCV001082359;	N	MedGen:CN169374\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,O	5	118877660	118877660	NC_000005.9:g.118877660A>G	ClinGen:CA3382539,UniProtKB:P51659#VAR_052315	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2190T>C (p.Leu730=)	3295	HSD17B4	Likely benign	1580736426	RCV001406994;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877668	118877668	5:g.118877668T>C	-
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=)	3295	HSD17B4	Benign	12714	RCV000214457\|RCV000271748\|RCV000364059\|RCV000543911\|RCV000676088;	N	MedGen:CN169374\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300; MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orp	5	118877677	118877677	5:g.118877677C>T	ClinGen:CA3382543	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His)	3295	HSD17B4	Likely pathogenic	1755036404	RCV001332424;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877685	118877685	118877685	-
NM_000414.4(HSD17B4):c.2208C>G (p.Leu736=)	3295	HSD17B4	Likely benign	1755036599	RCV002087262;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855; MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877686	118877686	118877686	-
NM_000414.4(HSD17B4):c.*6A>G	3295	HSD17B4	Benign	111671384	RCV000213852\|RCV000329156\|RCV000367413\|RCV000676089;	N	MedGen:CN169374\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:C3661900	5	118877695	118877695	NC_000005.9:g.118877695A>G	ClinGen:CA3382547	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*83T>G	3295	HSD17B4	Likely benign	181310520	RCV000275095\|RCV000332622;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877772	118877772	NC_000005.9:g.118877772T>G	ClinGen:CA10622299	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*123A>G	3295	HSD17B4	Uncertain significance	956800775	RCV001153597\|RCV001153596;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877812	118877812	5:g.118877812A>G	-
NM_000414.4(HSD17B4):c.*134C>T	3295	HSD17B4	Uncertain significance	543194892	RCV000278470\|RCV000389434;	N	MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877823	118877823	NC_000005.9:g.118877823C>T	ClinGen:CA10618815	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*135T>G	3295	HSD17B4	Conflicting interpretations of pathogenicity	185522709	RCV000317273\|RCV000374259;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855	5	118877824	118877824	NC_000005.9:g.118877824T>G	ClinGen:CA10618825	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*235T>C	3295	HSD17B4	Uncertain significance	553631151	RCV000281888\|RCV000339506;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300	5	118877924	118877924	NC_000005.9:g.118877924T>C	ClinGen:CA10618826	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*250dup	3295	HSD17B4	Benign	34381335	RCV000285560\|RCV000396348\|RCV001672648;	N	MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400, Orphanet:2855\|MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MedGen:CN517202	5	118877933	118877934	NC_000005.9:g.118877939dup	ClinGen:CA10619898	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*260A>G	3295	HSD17B4	Benign	28943596	RCV000342895\|RCV000399661\|RCV001718749;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900	5	118877949	118877949	NC_000005.9:g.118877949A>G	ClinGen:CA10622300	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;
NM_000414.4(HSD17B4):c.*278T>A	3295	HSD17B4	Conflicting interpretations of pathogenicity	149665666	RCV000307438\|RCV000364528\|RCV001577125;	N	MONDO:MONDO:0009855,MedGen:C0342870,OMIM:261515, Orphanet:300\|MONDO:MONDO:0009300,MedGen:C4551721,OMIM:233400, Orphanet:2855\|MedGen:C3661900	5	118877967	118877967	NC_000005.9:g.118877967T>A	ClinGen:CA10622284	C0342870 261515 Bifunctional peroxisomal enzyme deficiency;

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