3295[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59449	GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3	DMXL1, DMXL1-DT +84 more	Copy number gain	See cases	GUncertain significance
Select item 1191097	NC_000005.10:g.119452352G>A	HSD17B4	Single nucleotide variant	not provided	GLikely benign
Select item 904213	NM_000414.3(HSD17B4):c.-130C>T	HSD17B4	Single nucleotide variant	Perrault syndrome 1 +1 more	GUncertain significance
Select item 904214	NM_000414.3(HSD17B4):c.-119C>G	HSD17B4	Single nucleotide variant	Perrault syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 904215	NM_000414.4(HSD17B4):c.-75C>A	HSD17B4	Single nucleotide variant (5 prime UTR variant +1 more)	Perrault syndrome 1 +1 more	GUncertain significance
Select item 350457	NM_000414.4(HSD17B4):c.-75C>G	HSD17B4	Single nucleotide variant (5 prime UTR variant)	Perrault syndrome 1 +2 more	GBenign
Select item 3354540	NM_000414.4(HSD17B4):c.-27GT[6]	HSD17B4	Microsatellite (5 prime UTR variant +1 more)	HSD17B4-related disorder	GLikely benign
Select item 350458	NM_000414.4(HSD17B4):c.-28C>T	HSD17B4	Single nucleotide variant (5 prime UTR variant)	Perrault syndrome 1 +2 more	GBenign/Likely benign
Select item 350459	NM_000414.4(HSD17B4):c.-27G>C	HSD17B4	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 3058151	NM_000414.4(HSD17B4):c.-20T>C	HSD17B4	Single nucleotide variant (5 prime UTR variant +1 more)	HSD17B4-related disorder	GLikely benign
Select item 506476	NM_000414.4(HSD17B4):c.-17C>T	HSD17B4	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1198129	NM_000414.4(HSD17B4):c.-16G>T	HSD17B4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 859562	NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu)	HSD17B4 (M1L)	Single nucleotide variant (missense variant +3 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 225388	NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile)	HSD17B4 (M1I)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely pathogenic
Select item 2937723	NM_000414.4(HSD17B4):c.6C>G (p.Gly2=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1147998	NM_000414.4(HSD17B4):c.6C>T (p.Gly2=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 504834	NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg)	HSD17B4 (P4R)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1659441	NM_000414.4(HSD17B4):c.12G>T (p.Pro4=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1112570	NM_000414.4(HSD17B4):c.12G>A (p.Pro4=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1159066	NM_000414.4(HSD17B4):c.13C>T (p.Leu5=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 598584	NM_000414.4(HSD17B4):c.15G>A (p.Leu5=)	HSD17B4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 1107030	NM_000414.4(HSD17B4):c.21C>T (p.Phe7=)	HSD17B4	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 2676163	NM_000414.4(HSD17B4):c.25_44del (p.Gly9fs)	HSD17B4, LOC129994460 (G9fs)	Deletion (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 501469	NM_000414.4(HSD17B4):c.27G>A (p.Gly9=)	LOC129994460, HSD17B4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2500745	NM_000414.4(HSD17B4):c.31dup (p.Val11fs)	HSD17B4, LOC129994460 (V11fs)	Duplication (frameshift variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GPathogenic
Select item 1955793	NM_000414.4(HSD17B4):c.30G>A (p.Arg10=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2170380	NM_000414.4(HSD17B4):c.33G>T (p.Val11=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 596252	NM_000414.4(HSD17B4):c.37C>A (p.Leu13Met)	HSD17B4, LOC129994460 (L13M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1106190	NM_000414.4(HSD17B4):c.39G>T (p.Leu13=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 3241764	NM_000414.4(HSD17B4):c.43A>G (p.Thr15Ala)	HSD17B4, LOC129994460 (T15A)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 1921189	NM_000414.4(HSD17B4):c.44C>T (p.Thr15Ile)	HSD17B4, LOC129994460 (T15I)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GUncertain significance
Select item 1140489	NM_000414.4(HSD17B4):c.45C>T (p.Thr15=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 7655	NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)	HSD17B4, LOC129994460 (G16S)	Single nucleotide variant (missense variant +1 more)	Bifunctional peroxisomal enzyme deficiency +4 more	GPathogenic/Likely pathogenic
Select item 2010040	NM_000414.4(HSD17B4):c.48C>A (p.Gly16=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2928469	NM_000414.4(HSD17B4):c.51G>A (p.Ala17=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 742709	NM_000414.4(HSD17B4):c.51G>T (p.Ala17=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2576607	NM_000414.4(HSD17B4):c.53G>T (p.Gly18Val)	HSD17B4, LOC129994460 (G18V)	Single nucleotide variant (missense variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GUncertain significance
Select item 1121026	NM_000414.4(HSD17B4):c.54G>A (p.Gly18=)	HSD17B4, LOC129994460	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 554249	NM_000414.4(HSD17B4):c.56_58+3del	HSD17B4, LOC129994460	Deletion (5 prime UTR variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely pathogenic
Select item 227431	NM_000414.4(HSD17B4):c.56C>G (p.Ala19Gly)	HSD17B4, LOC129994460 (A19G)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
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 +1 more	GPathogenic/Likely pathogenic
Select item 945823	NM_000414.4(HSD17B4):c.58+1G>C	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GPathogenic
Select item 1085573	NM_000414.4(HSD17B4):c.58+7A>G	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 2101498	NM_000414.4(HSD17B4):c.58+11_58+35del	HSD17B4, LOC129994460	Deletion (5 prime UTR variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 1079686	NM_000414.4(HSD17B4):c.58+10C>T	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Perrault syndrome +1 more	GLikely benign
Select item 2953013	NM_000414.4(HSD17B4):c.58+14G>A	HSD17B4, LOC129994460	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2934312	NM_000414.4(HSD17B4):c.58+15G>T	HSD17B4	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2943506	NM_000414.4(HSD17B4):c.58+16T>A	HSD17B4	Single nucleotide variant (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1217585	NM_000414.4(HSD17B4):c.58+105G>A	HSD17B4	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 1189593	NM_000414.4(HSD17B4):c.58+118G>A	HSD17B4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 557301	NM_000414.4(HSD17B4):c.58+121A>G	HSD17B4 (M1V)	Single nucleotide variant (missense variant +3 more)	Bifunctional peroxisomal enzyme deficiency	GUncertain significance
Select item 554610	NM_000414.4(HSD17B4):c.58+123G>C	HSD17B4 (M1I)	Single nucleotide variant (missense variant +3 more)	Bifunctional peroxisomal enzyme deficiency	GUncertain significance
Select item 551398	NM_000414.4(HSD17B4):c.58+127_58+129del	HSD17B4 (I3del)	Deletion (5 prime UTR variant +2 more)	Bifunctional peroxisomal enzyme deficiency	GLikely benign
Select item 3058315	NM_000414.4(HSD17B4):c.58+147C>T	HSD17B4	Single nucleotide variant (synonymous variant +3 more)	HSD17B4-related disorder	GLikely benign
Select item 3356238	NM_000414.4(HSD17B4):c.58+152G>T	HSD17B4 (R11M)	Single nucleotide variant (missense variant +3 more)	HSD17B4-related disorder	GUncertain significance
Select item 3029754	NM_000414.4(HSD17B4):c.58+180C>A	HSD17B4	Single nucleotide variant (synonymous variant +3 more)	HSD17B4-related disorder	GLikely benign
Select item 3350610	NM_000414.4(HSD17B4):c.58+182C>T	HSD17B4 (S21L)	Single nucleotide variant (missense variant +3 more)	HSD17B4-related disorder	GUncertain significance
Select item 2682900	NM_000414.4(HSD17B4):c.58+185G>A	HSD17B4 (S22N)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 558344	NM_000414.4(HSD17B4):c.58+189del	HSD17B4	Deletion (splice donor variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GUncertain significance
Select item 551350	NM_000414.4(HSD17B4):c.58+189G>C	HSD17B4	Single nucleotide variant (splice donor variant +1 more)	Bifunctional peroxisomal enzyme deficiency	GLikely benign
Select item 586027	NM_000414.4(HSD17B4):c.58+190T>A	HSD17B4	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2312578	NM_000414.4(HSD17B4):c.58+194G>T	HSD17B4	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 227436	NM_000414.4(HSD17B4):c.58+195C>T	HSD17B4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3036716	NM_000414.4(HSD17B4):c.58+197C>G	HSD17B4	Single nucleotide variant (intron variant)	HSD17B4-related disorder	GLikely benign
Select item 1247205	NM_000414.4(HSD17B4):c.58+278C>G	HSD17B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292701	NM_000414.4(HSD17B4):c.59-178G>A	HSD17B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676888	NM_000414.4(HSD17B4):c.59-33C>G	HSD17B4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1153471	NM_000414.4(HSD17B4):c.59-8T>A	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GLikely benign
Select item 2931202	NM_000414.4(HSD17B4):c.59-5A>T	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2949297	NM_000414.4(HSD17B4):c.59-4T>C	HSD17B4	Single nucleotide variant (intron variant)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 2140091	NM_000414.4(HSD17B4):c.59-3T>G	HSD17B4	Single nucleotide variant (intron variant)	Perrault syndrome +1 more	GUncertain significance
Select item 2676161	NM_000414.4(HSD17B4):c.59-1G>A	HSD17B4	Single nucleotide variant (splice acceptor variant +1 more)	Perrault syndrome +1 more	GLikely pathogenic
Select item 2006227	NM_000414.4(HSD17B4):c.61T>C (p.Leu21=)	HSD17B4 (I24T)	Single nucleotide variant (synonymous variant +4 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 242583	NC_000005.9:g.118792015G>T	HSD17B4 (G22C +1 more)	Single nucleotide variant (missense variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2142016	NM_000414.4(HSD17B4):c.67C>G (p.Arg23Gly)	HSD17B4 (R23G +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 371607	NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)	HSD17B4 (P26L +1 more)	Single nucleotide variant (nonsense +3 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1448679	NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln)	HSD17B4 (R23Q)	Single nucleotide variant (missense variant +4 more)	Bifunctional peroxisomal enzyme deficiency +2 more	GUncertain significance
Select item 1121587	NM_000414.4(HSD17B4):c.72C>T (p.Ala24=)	HSD17B4	Single nucleotide variant (synonymous variant +3 more)	Perrault syndrome +1 more	GLikely benign
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 1994644	NM_000414.4(HSD17B4):c.75T>C (p.Tyr25=)	HSD17B4 (C29R)	Single nucleotide variant (synonymous variant +4 more)	Perrault syndrome +1 more	GLikely benign
Select item 2590975	NM_000414.4(HSD17B4):c.76G>T (p.Ala26Ser)	HSD17B4 (A26S +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1081461	NM_000414.4(HSD17B4):c.78C>T (p.Ala26=)	HSD17B4 (P30S)	Single nucleotide variant (synonymous variant +4 more)	Perrault syndrome +1 more	GLikely benign
Select item 1660441	NM_000414.4(HSD17B4):c.81G>A (p.Leu27=)	HSD17B4 (G31S)	Single nucleotide variant (synonymous variant +4 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 1101486	NM_000414.4(HSD17B4):c.81G>T (p.Leu27=)	HSD17B4 (G31C)	Single nucleotide variant (synonymous variant +4 more)	Perrault syndrome +1 more	GLikely benign
Select item 1379432	NM_000414.4(HSD17B4):c.84T>G (p.Ala28=)	HSD17B4 (F32V)	Single nucleotide variant (synonymous variant +4 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 595596	NM_000414.4(HSD17B4):c.99A>G (p.Gly33=)	HSD17B4 (S37G)	Single nucleotide variant (intron variant +3 more)	Perrault syndrome +2 more	GConflicting classifications of pathogenicity
Select item 137616	NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)	HSD17B4 (A34V)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 554819	NM_000414.4(HSD17B4):c.102G>A (p.Ala34=)	HSD17B4 (V38I)	Single nucleotide variant (synonymous variant +3 more)	Bifunctional peroxisomal enzyme deficiency +1 more	GLikely benign
Select item 3107127	NM_000414.4(HSD17B4):c.109G>T (p.Val37Phe)	HSD17B4 (C40F +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 504931	NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile)	HSD17B4 (C40Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity

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