WDHD1[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	LRR1, MAP4K5 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 3061843	GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1	CGRRF1, LOC130055695 +89 more	Copy number loss	Dystonia 5	GPathogenic
Select item 2358522	NM_007086.4(WDHD1):c.3308A>G (p.Asn1103Ser)	WDHD1 (N1103S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708577	NM_007086.4(WDHD1):c.3199A>C (p.Asn1067His)	WDHD1 (N1067H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 807117	NM_007086.4(WDHD1):c.3190-1G>A	WDHD1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 786619	NM_007086.4(WDHD1):c.3087T>C (p.Asn1029=)	WDHD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776841	NM_007086.4(WDHD1):c.3012C>T (p.Thr1004=)	WDHD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2272845	NM_007086.4(WDHD1):c.2935T>A (p.Phe979Ile)	WDHD1 (F979I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335545	NM_007086.4(WDHD1):c.2837C>A (p.Ser946Tyr)	WDHD1 (S823Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712596	NM_007086.4(WDHD1):c.2658G>A (p.Ser886=)	WDHD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2205227	NM_007086.4(WDHD1):c.2606G>A (p.Gly869Glu)	WDHD1 (G869E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533877	NM_007086.4(WDHD1):c.2553G>T (p.Glu851Asp)	WDHD1 (E728D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721547	NM_007086.4(WDHD1):c.2532-4T>C	WDHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2253911	NM_007086.4(WDHD1):c.2525A>G (p.Asn842Ser)	WDHD1 (N719S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454381	NM_007086.4(WDHD1):c.2482G>C (p.Val828Leu)	WDHD1 (V705L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531932	NM_007086.4(WDHD1):c.2476A>G (p.Thr826Ala)	WDHD1 (T826A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360062	NM_007086.4(WDHD1):c.2420T>C (p.Ile807Thr)	WDHD1 (I807T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377122	NM_007086.4(WDHD1):c.2357A>G (p.Asp786Gly)	WDHD1 (D663G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528205	NM_007086.4(WDHD1):c.2338C>T (p.Arg780Cys)	WDHD1 (R657C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301874	NM_007086.4(WDHD1):c.2282A>G (p.Gln761Arg)	WDHD1 (Q761R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323678	NM_007086.4(WDHD1):c.2212C>T (p.His738Tyr)	WDHD1 (H738Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2306263	NM_007086.4(WDHD1):c.2192G>A (p.Arg731His)	WDHD1 (R731H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309807	NM_007086.4(WDHD1):c.2107C>T (p.Arg703Cys)	WDHD1 (R580C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396001	NM_007086.4(WDHD1):c.2040C>G (p.Ile680Met)	WDHD1 (I557M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612256	NM_007086.4(WDHD1):c.1958G>A (p.Gly653Glu)	WDHD1 (G530E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404405	NM_007086.4(WDHD1):c.1847G>A (p.Gly616Asp)	WDHD1 (G493D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057186	NM_007086.4(WDHD1):c.1820G>C (p.Gly607Ala)	WDHD1 (G484A +1 more)	Single nucleotide variant (missense variant)	WDHD1-related condition	GLikely benign
Select item 2598880	NM_007086.4(WDHD1):c.1791G>T (p.Gln597His)	WDHD1 (Q474H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227611	NM_007086.4(WDHD1):c.1763A>G (p.His588Arg)	WDHD1 (H465R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529772	NM_007086.4(WDHD1):c.1712G>C (p.Gly571Ala)	WDHD1 (G448A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407653	NM_007086.4(WDHD1):c.1570G>C (p.Glu524Gln)	WDHD1 (E524Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256518	NM_007086.4(WDHD1):c.1396A>G (p.Ile466Val)	WDHD1 (I343V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789641	NM_007086.4(WDHD1):c.1383G>C (p.Glu461Asp)	WDHD1 (E338D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2471641	NM_007086.4(WDHD1):c.1342G>A (p.Val448Met)	WDHD1 (V325M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701233	NM_007086.4(WDHD1):c.1341+5_1341+6inv	WDHD1	Inversion (intron variant)	not provided	GUncertain significance
Select item 2297353	NM_007086.4(WDHD1):c.1321C>G (p.His441Asp)	WDHD1 (H441D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276218	NM_007086.4(WDHD1):c.1312A>T (p.Thr438Ser)	WDHD1 (T315S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537570	NM_007086.4(WDHD1):c.1229A>G (p.Asn410Ser)	WDHD1 (N410S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597447	NM_007086.4(WDHD1):c.1196A>G (p.Glu399Gly)	WDHD1 (E276G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486970	NM_007086.4(WDHD1):c.1186C>G (p.Leu396Val)	WDHD1 (L273V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776842	NM_007086.4(WDHD1):c.1118G>A (p.Arg373Gln)	WDHD1 (R250Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3036357	NM_007086.4(WDHD1):c.1070A>G (p.Asp357Gly)	WDHD1 (D234G +1 more)	Single nucleotide variant (missense variant)	WDHD1-related condition	GLikely benign
Select item 2297424	NM_007086.4(WDHD1):c.1040C>G (p.Pro347Arg)	WDHD1 (P224R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251958	NM_007086.4(WDHD1):c.1037T>G (p.Ile346Ser)	WDHD1 (I223S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710033	NM_007086.4(WDHD1):c.1012T>C (p.Phe338Leu)	WDHD1 (F215L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2399315	NM_007086.4(WDHD1):c.1009G>A (p.Asp337Asn)	WDHD1 (D214N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039721	NM_007086.4(WDHD1):c.991G>A (p.Asp331Asn)	WDHD1 (D208N +1 more)	Single nucleotide variant (missense variant)	WDHD1-related condition	GLikely benign
Select item 2314478	NM_007086.4(WDHD1):c.851C>T (p.Thr284Ile)	WDHD1 (T161I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608633	NM_007086.4(WDHD1):c.755G>T (p.Gly252Val)	WDHD1 (G252V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644249	NM_007086.4(WDHD1):c.692A>T (p.Gln231Leu)	WDHD1 (Q108L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2486185	NM_007086.4(WDHD1):c.530T>C (p.Leu177Pro)	WDHD1 (L54P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787943	NM_007086.4(WDHD1):c.500A>C (p.Asp167Ala)	WDHD1 (D167A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2387549	NM_007086.4(WDHD1):c.476C>A (p.Ser159Tyr)	WDHD1 (S159Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727242	NM_007086.4(WDHD1):c.279C>T (p.Phe93=)	WDHD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2644250	NM_007086.4(WDHD1):c.270G>A (p.Leu90=)	WDHD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527818	GRCh37/hg19 14q22.1-22.3(chr14:53241194-55803026)	BMP4, CDKN3 +15 more	Copy number loss	not specified	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 988922	GRCh37/hg19 14q22.2(chr14:55343414-55414889)x1	GCH1, WDHD1	Copy number loss	not provided	GPathogenic
Select item 815658	GRCh37/hg19 14q22.2(chr14:55443205-55465205)x1	WDHD1	Copy number loss	not provided	GUncertain significance
Select item 686986	GRCh37/hg19 14q22.2(chr14:55347877-55413525)x3	GCH1, WDHD1	Copy number gain	not provided	GUncertain significance
Select item 685471	GRCh37/hg19 14q22.2(chr14:55347877-55413525)x3	GCH1, WDHD1	Copy number gain	not provided	GUncertain significance
Select item 564132	GRCh37/hg19 14q22.2-22.3(chr14:54530302-55812050)x3	GCH1, LGALS3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443523	GRCh37/hg19 14q22.2(chr14:55348382-55411774)x3	GCH1, WDHD1	Copy number gain	See cases	GUncertain significance
Select item 442406	GRCh37/hg19 14q22.2(chr14:55348215-55411774)x3	GCH1, WDHD1	Copy number gain	See cases	GLikely benign
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 72