ClinVar for Gene (Select 23038) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333044	NM_001276252.2(WDTC1):c.1430G>A (p.Arg477His)	WDTC1 (R477H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333043	NM_001276252.2(WDTC1):c.1551G>A (p.Met517Ile)	WDTC1 (M517I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333042	NM_001276252.2(WDTC1):c.34C>T (p.Arg12Cys)	WDTC1 (R12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333041	NM_001276252.2(WDTC1):c.56G>T (p.Gly19Val)	WDTC1 (G19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333040	NM_001276252.2(WDTC1):c.5C>T (p.Ala2Val)	WDTC1 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333039	NM_001276252.2(WDTC1):c.416G>A (p.Arg139His)	WDTC1 (R139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190440	NM_001276252.2(WDTC1):c.74G>A (p.Arg25Gln)	WDTC1 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190438	NM_001276252.2(WDTC1):c.1771A>G (p.Ser591Gly)	WDTC1 (S591G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190437	NM_001276252.2(WDTC1):c.1571A>G (p.Tyr524Cys)	WDTC1 (Y523C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190436	NM_001276252.2(WDTC1):c.1496C>T (p.Ala499Val)	WDTC1 (A498V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190435	NM_001276252.2(WDTC1):c.1182C>A (p.His394Gln)	WDTC1 (H394Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2547403	NM_001276252.2(WDTC1):c.1631A>C (p.Asn544Thr)	WDTC1 (N543T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536667	NM_001276252.2(WDTC1):c.1001A>G (p.Asn334Ser)	WDTC1 (N333S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484713	NM_001276252.2(WDTC1):c.1031G>A (p.Arg344Gln)	WDTC1 (R343Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472798	NM_001276252.2(WDTC1):c.863G>C (p.Gly288Ala)	WDTC1 (G288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467055	NM_001276252.2(WDTC1):c.1510C>T (p.Arg504Cys)	WDTC1 (R503C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406714	NM_001276252.2(WDTC1):c.1976C>T (p.Ala659Val)	WDTC1 (A658V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383477	NM_001276252.2(WDTC1):c.1089G>C (p.Glu363Asp)	WDTC1 (E363D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373889	NM_001276252.2(WDTC1):c.1504C>T (p.Arg502Cys)	WDTC1 (R501C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371304	NM_001276252.2(WDTC1):c.1030C>T (p.Arg344Trp)	WDTC1 (R344W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349509	NM_001276252.2(WDTC1):c.1517C>T (p.Thr506Met)	WDTC1 (T505M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339220	NM_001276252.2(WDTC1):c.511T>G (p.Ser171Ala)	WDTC1 (S171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314039	NM_001276252.2(WDTC1):c.1535T>C (p.Ile512Thr)	WDTC1 (I511T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265586	NM_001276252.2(WDTC1):c.1872G>T (p.Met624Ile)	WDTC1 (M623I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258341	NM_001276252.2(WDTC1):c.1576T>C (p.Tyr526His)	WDTC1 (Y526H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243767	NM_001276252.2(WDTC1):c.861G>T (p.Met287Ile)	WDTC1 (M287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230304	NM_001276252.2(WDTC1):c.1037C>T (p.Pro346Leu)	WDTC1 (P345L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220274	NM_001276252.2(WDTC1):c.32T>A (p.Ile11Asn)	WDTC1 (I11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215585	NM_001276252.2(WDTC1):c.889T>A (p.Leu297Met)	WDTC1 (L297M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1526429	GRCh37/hg19 1p36.11-35.3(chr1:27488298-28138628)	AHDC1, CD164L2 +11 more	Copy number loss	not specified	GPathogenic
Select item 790486	NM_001276252.2(WDTC1):c.1824C>T (p.Asn608=)	WDTC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790485	NM_001276252.2(WDTC1):c.978C>T (p.Asn326=)	WDTC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773630	NM_001276252.2(WDTC1):c.921C>T (p.Leu307=)	WDTC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732763	NM_001276252.2(WDTC1):c.6G>A (p.Ala2=)	WDTC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723479	NM_001276252.2(WDTC1):c.132+7G>T	WDTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 44