ClinVar for MedGen (Select 1640257) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3891360	NM_000414.4(HSD17B4):c.1143A>G (p.Ile381Met)	HSD17B4 (I244M +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 3891300	NM_018066.4(GPN2):c.664A>G (p.Asn222Asp)	GPN2 (N222D)	Single nucleotide variant (missense variant)	Perrault syndrome 1	GUncertain significance
Select item 3891299	NM_018066.4(GPN2):c.363C>A (p.His121Gln)	GPN2 (H121Q)	Single nucleotide variant (missense variant)	Perrault syndrome 1	GLikely pathogenic
Select item 3591588	NM_000414.4(HSD17B4):c.2002C>G (p.Leu668Val)	HSD17B4 (L528V +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 3591587	NM_000414.4(HSD17B4):c.1729A>G (p.Met577Val)	HSD17B4 (M440V +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 3591586	NM_000414.4(HSD17B4):c.1714A>G (p.Thr572Ala)	HSD17B4 (T554A +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 3591584	NM_000414.4(HSD17B4):c.1516_1517insAA (p.Arg506fs)	HSD17B4 (R369fs +8 more)	Insertion (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 3591583	NM_000414.4(HSD17B4):c.1501C>T (p.Gln501Ter)	HSD17B4 (Q354* +8 more)	Single nucleotide variant (nonsense +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 3591582	NM_000414.4(HSD17B4):c.1196_1199del (p.Ile399fs)	HSD17B4 (I381fs +8 more)	Microsatellite (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 3591580	NM_000414.4(HSD17B4):c.988C>T (p.Gln330Ter)	HSD17B4 (Q183* +8 more)	Single nucleotide variant (nonsense +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 3385343	NC_000001.11:g.(155641696_155642174)_(155747546_155777277)del	DAP3, GON4L +4 more	Deletion	Perrault syndrome 1	GLikely pathogenic
Select item 3382390	NM_000414.4(HSD17B4):c.740-2A>T	HSD17B4	Single nucleotide variant (non-coding transcript variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 3382211	NM_000414.4(HSD17B4):c.1423_1435del (p.Ser475fs)	HSD17B4 (S328fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome 1 +1 more	GLikely pathogenic
Select item 3362607	NM_000414.4(HSD17B4):c.230AAG[1] (p.Glu78del)	HSD17B4 (E103del +3 more)	Microsatellite (5 prime UTR variant +1 more)	Perrault syndrome 1	GUncertain significance
Select item 3362536	NM_000414.4(HSD17B4):c.302+3_307del	HSD17B4	Deletion (splice acceptor variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 3362530	NM_000414.4(HSD17B4):c.2130del (p.Phe710fs)	HSD17B4 (F563fs +8 more)	Deletion (frameshift variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 3068222	NM_000414.4(HSD17B4):c.302+2_302+3insTGTTGT	HSD17B4	Insertion (splice donor variant)	Perrault syndrome 1	GUncertain significance
Select item 3065507	NM_000414.4(HSD17B4):c.21C>G (p.Phe7Leu)	HSD17B4 (F7L)	Single nucleotide variant (missense variant +2 more)	Perrault syndrome 1	GUncertain significance
Select item 3065193	NM_000414.4(HSD17B4):c.1604G>T (p.Cys535Phe)	HSD17B4 (C388F +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 3064205	NM_000414.4(HSD17B4):c.1545C>G (p.His515Gln)	HSD17B4 (H368Q +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GPathogenic
Select item 3064170	NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)	HSD17B4 (Q142* +8 more)	Single nucleotide variant (nonsense +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 3061952	NM_000414.4(HSD17B4):c.430G>A (p.Gly144Arg)	HSD17B4 (G120R +5 more)	Single nucleotide variant (missense variant +3 more)	Perrault syndrome 1	GUncertain significance
Select item 2691726	NM_004927.4(MRPL49):c.125_126del (p.Val42fs)	MRPL49 (V42fs)	Microsatellite (frameshift variant +1 more)	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60 +1 more	GPathogenic/Likely pathogenic
Select item 2691725	NM_004927.4(MRPL49):c.275A>C (p.His92Pro)	MRPL49 (H92P)	Single nucleotide variant (missense variant +1 more)	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60 +1 more	GPathogenic/Likely pathogenic
Select item 2691724	NM_004927.4(MRPL49):c.263G>A (p.Arg88His)	MRPL49 (R88H)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 2691723	NM_004927.4(MRPL49):c.262C>T (p.Arg88Cys)	MRPL49 (R88C)	Single nucleotide variant (missense variant +1 more)	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60 +1 more	GPathogenic/Likely pathogenic
Select item 2683853	NC_000001.11:g.(155747068_155747546)_(155611487_155611965)del	DAP3	Deletion	Perrault syndrome 1	GPathogenic
Select item 2683852	NM_004632.4(DAP3):c.1184G>A (p.Cys395Tyr)	DAP3 (C354Y +2 more)	Single nucleotide variant (missense variant)	Perrault syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2683851	NM_004632.4(DAP3):c.1174G>A (p.Glu392Lys)	DAP3 (E351K +2 more)	Single nucleotide variant (missense variant)	Perrault syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2683850	NM_004632.4(DAP3):c.395C>T (p.Thr132Ile)	DAP3 (T132I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2676150	NM_000414.4(HSD17B4):c.1573+1G>A	HSD17B4	Single nucleotide variant (splice donor variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 2676147	NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)	HSD17B4 (L258P +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 2579749	NM_006012.4(CLPP):c.383_399dup (p.Asp134fs)	CLPP (D134fs)	Duplication (frameshift variant)	Perrault syndrome 1	GPathogenic
Select item 2044553	NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)	HSD17B4 (R175W +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1726965	NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs)	HSD17B4 (M296fs +8 more)	Deletion (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1726815	NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs)	HSD17B4 (E36fs +3 more)	Indel (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1726792	NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)	HSD17B4 (C388* +8 more)	Single nucleotide variant (nonsense +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1726708	NM_000414.4(HSD17B4):c.358del (p.His120fs)	HSD17B4 (H102fs +4 more)	Deletion (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1726033	NM_000414.4(HSD17B4):c.947_948del (p.Ala316fs)	HSD17B4 (A169fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1726022	NM_000414.4(HSD17B4):c.1001del (p.Pro334fs)	HSD17B4 (P187fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1725982	NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer)	HSD17B4	Insertion (nonsense +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1725943	NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs)	HSD17B4 (I217fs +8 more)	Microsatellite (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1725912	NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs)	HSD17B4 (D32fs +3 more)	Indel (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1725564	NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs)	HSD17B4 (L264fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1725544	NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs)	HSD17B4 (L100fs +4 more)	Indel (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1725530	NM_000414.4(HSD17B4):c.1488del (p.Thr497fs)	HSD17B4 (T350fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1725529	NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs)	HSD17B4 (L104fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1725256	NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)	HSD17B4 (G386* +8 more)	Single nucleotide variant (nonsense +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1725096	NM_000414.4(HSD17B4):c.1660_1661del (p.Ser554fs)	HSD17B4 (S407fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1724808	NM_000414.4(HSD17B4):c.1135_1136insACTGTCTC (p.Val379fs)	HSD17B4 (V232fs +8 more)	Insertion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1724801	NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs)	HSD17B4 (A344fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1724650	NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs)	HSD17B4 (I337fs +8 more)	Indel (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1724489	NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs)	HSD17B4 (L352fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1724207	NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs)	HSD17B4 (K105fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1724206	NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs)	HSD17B4 (L100fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1724204	NM_000414.4(HSD17B4):c.652_656del (p.Val218fs)	HSD17B4 (V109fs +8 more)	Deletion (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1724132	NM_000414.4(HSD17B4):c.290del (p.Val97fs)	HSD17B4 (S4fs +4 more)	Deletion (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1723938	NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter)	HSD17B4 (K106* +3 more)	Single nucleotide variant (nonsense +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1685886	NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe)	HSD17B4 (L154F +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GPathogenic
Select item 1512224	NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe)	HSD17B4 (S235F +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome +2 more	GLikely pathogenic
Select item 1510430	NM_000414.4(HSD17B4):c.1262-1G>A	HSD17B4	Single nucleotide variant (splice acceptor variant +1 more)	Perrault syndrome +2 more	GLikely pathogenic
Select item 1460126	NM_000414.4(HSD17B4):c.698dup (p.Asn233fs)	HSD17B4 (N209fs +8 more)	Duplication (frameshift variant +1 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1459623	NM_000414.4(HSD17B4):c.58+1G>T	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1458501	NM_000414.4(HSD17B4):c.605dup (p.Thr203fs)	HSD17B4 (T203fs +8 more)	Duplication (frameshift variant +1 more)	Perrault syndrome 1 +2 more	GPathogenic
Select item 1448679	NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln)	HSD17B4 (R23Q)	Single nucleotide variant (missense variant +4 more)	Perrault syndrome +2 more	GUncertain significance
Select item 1388020	NM_000414.4(HSD17B4):c.1078G>T (p.Asp360Tyr)	HSD17B4 (D220Y +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +2 more	GUncertain significance
Select item 1332792	NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His)	HSD17B4 (Y132H +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 1332757	NM_000138.5(FBN1):c.1867T>A (p.Cys623Ser)	FBN1 (C623S)	Single nucleotide variant (missense variant)	Perrault syndrome 1	GLikely pathogenic
Select item 1332755	NM_000138.5:c.(1468+1_1469-1)_(1837+1_1838-1)del	FBN1	Deletion	Perrault syndrome 1	GPathogenic
Select item 1329469	NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys)	HSD17B4 (Y192C +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 1329468	NM_000414.4(HSD17B4):c.835T>G (p.Phe279Val)	HSD17B4 (F132V +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1	GUncertain significance
Select item 1328543	NM_000414.4(HSD17B4):c.349+4A>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome 1	GUncertain significance
Select item 1328542	NM_000414.4(HSD17B4):c.74A>G (p.Tyr25Cys)	HSD17B4 (Y25C)	Single nucleotide variant (missense variant +4 more)	Perrault syndrome 1	GUncertain significance
Select item 1301845	NM_000414.4(HSD17B4):c.1767+4T>C	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 1299314	NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 1292047	NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser)	PRORP, PRORP-PSMA6 (N317S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1199315	NM_000414.4(HSD17B4):c.1876T>G (p.Phe626Val)	HSD17B4 (F479V +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 1185272	NM_000414.4(HSD17B4):c.1261+47A>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GBenign
Select item 1185271	NM_000414.4(HSD17B4):c.1210-78T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GBenign
Select item 1185270	NM_000414.4(HSD17B4):c.434+120A>G	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GBenign
Select item 1185269	NM_000414.4(HSD17B4):c.434+44T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GBenign
Select item 1185151	NM_000414.4(HSD17B4):c.1993+74G>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GBenign
Select item 1185150	NM_000414.4(HSD17B4):c.1767+57C>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GBenign
Select item 1179479	NM_000414.4(HSD17B4):c.2122-34C>T	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome 1 +2 more	GBenign
Select item 1075802	NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)	HSD17B4 (Q117* +5 more)	Single nucleotide variant (nonsense +2 more)	Perrault syndrome 1 +2 more	GPathogenic
Select item 1074454	NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr)	HSD17B4 (P366T +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1064601	NM_000414.4(HSD17B4):c.1333+1G>C	HSD17B4	Single nucleotide variant (splice donor variant +1 more)	Perrault syndrome 1	GLikely pathogenic
Select item 1030778	NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His)	HSD17B4 (L589H +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 1029245	NM_000414.4(HSD17B4):c.673C>T (p.Leu225Phe)	HSD17B4 (L250F +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 1027412	NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)	HSD17B4 (V109L +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GPathogenic/Likely pathogenic
Select item 970634	NM_000414.4(HSD17B4):c.1552C>T (p.Pro518Ser)	HSD17B4 (P371S +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GUncertain significance
Select item 907737	NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr)	HSD17B4 (K505T +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 907604	NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr)	HSD17B4 (P106T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 907603	NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro)	HSD17B4 (Q186P +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 906728	NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GConflicting classifications of pathogenicity
Select item 906584	NM_000414.4(HSD17B4):c.388G>A (p.Val130Met)	HSD17B4 (V106M +4 more)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 905207	NM_000414.4(HSD17B4):c.*123A>G	HSD17B4	Single nucleotide variant (3 prime UTR variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 905064	NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro)	HSD17B4 (A145P +8 more)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 904999	NM_000414.4(HSD17B4):c.112+11G>A	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +2 more	GConflicting classifications of pathogenicity
Select item 904408	NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp)	HSD17B4 (G703D +8 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance

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