24361[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 917492	NC_000009.12:g.1_190938del	FAM138C, FOXD4 +11 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 545373	NC_000009.12:g.(?_10000)_(400952_?)del	DOCK8, DOCK8-AS1 +20 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 3189544	NM_001378090.1(WASHC1):c.1384G>A (p.Asp462Asn)	WASHC1 (D462N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189543	NM_001378090.1(WASHC1):c.1340C>G (p.Pro447Arg)	WASHC1 (P447R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515670	NM_001378090.1(WASHC1):c.1321G>A (p.Val441Met)	WASHC1 (V441M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469433	NM_001378090.1(WASHC1):c.1258C>T (p.Arg420Cys)	WASHC1 (R420C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189542	NM_001378090.1(WASHC1):c.1193A>G (p.Gln398Arg)	WASHC1 (Q398R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601012	NM_001378090.1(WASHC1):c.1180A>C (p.Lys394Gln)	WASHC1 (K394Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189541	NM_001378090.1(WASHC1):c.1162C>G (p.Leu388Val)	WASHC1 (L388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189540	NM_001378090.1(WASHC1):c.1147A>G (p.Met383Val)	WASHC1 (M383V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189539	NM_001378090.1(WASHC1):c.1142G>A (p.Arg381His)	WASHC1 (R381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538247	NM_001378090.1(WASHC1):c.1141C>T (p.Arg381Cys)	WASHC1 (R381C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189538	NM_001378090.1(WASHC1):c.1115C>G (p.Ala372Gly)	WASHC1 (A372G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616211	NM_001378090.1(WASHC1):c.1108C>T (p.Arg370Cys)	WASHC1 (R370C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542745	NM_001378090.1(WASHC1):c.1106T>C (p.Ile369Thr)	WASHC1 (I369T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189537	NM_001378090.1(WASHC1):c.1091C>G (p.Thr364Ser)	WASHC1 (T364S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189536	NM_001378090.1(WASHC1):c.1082G>A (p.Gly361Asp)	WASHC1 (G361D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189535	NM_001378090.1(WASHC1):c.1078G>A (p.Gly360Ser)	WASHC1 (G360S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2563967	NM_001378090.1(WASHC1):c.1072C>T (p.Pro358Ser)	WASHC1 (P358S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189534	NM_001378090.1(WASHC1):c.1030G>A (p.Ala344Thr)	WASHC1 (A344T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659007	NM_001378090.1(WASHC1):c.912C>A (p.Pro304=)	WASHC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3189562	NM_001378090.1(WASHC1):c.893A>G (p.Asp298Gly)	WASHC1 (D298G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189561	NM_001378090.1(WASHC1):c.868G>A (p.Glu290Lys)	WASHC1 (E290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464140	NM_001378090.1(WASHC1):c.830C>G (p.Thr277Ser)	WASHC1 (T277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619318	NM_001378090.1(WASHC1):c.829A>G (p.Thr277Ala)	WASHC1 (T277A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189560	NM_001378090.1(WASHC1):c.815C>T (p.Pro272Leu)	WASHC1 (P272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189559	NM_001378090.1(WASHC1):c.793G>A (p.Asp265Asn)	WASHC1 (D265N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189557	NM_001378090.1(WASHC1):c.773A>G (p.Asn258Ser)	WASHC1 (N258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189556	NM_001378090.1(WASHC1):c.764G>C (p.Gly255Ala)	WASHC1 (G255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659008	NM_001378090.1(WASHC1):c.762C>T (p.Pro254=)	WASHC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3189555	NM_001378090.1(WASHC1):c.751C>T (p.Pro251Ser)	WASHC1 (P251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189554	NM_001378090.1(WASHC1):c.739C>T (p.Pro247Ser)	WASHC1 (P247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189553	NM_001378090.1(WASHC1):c.733C>A (p.His245Asn)	WASHC1 (H245N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659009	NM_001378090.1(WASHC1):c.724C>T (p.Pro242Ser)	WASHC1 (P242S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3189552	NM_001378090.1(WASHC1):c.706C>G (p.Pro236Ala)	WASHC1 (P236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189551	NM_001378090.1(WASHC1):c.636T>A (p.Phe212Leu)	WASHC1 (F212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459770	NM_001378090.1(WASHC1):c.635T>C (p.Phe212Ser)	WASHC1 (F212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189550	NM_001378090.1(WASHC1):c.631C>G (p.Leu211Val)	WASHC1 (L211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189549	NM_001378090.1(WASHC1):c.547T>A (p.Tyr183Asn)	WASHC1 (Y183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189548	NM_001378090.1(WASHC1):c.542A>G (p.Asn181Ser)	WASHC1 (N181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189547	NM_001378090.1(WASHC1):c.536C>A (p.Thr179Asn)	WASHC1 (T179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457685	NM_001378090.1(WASHC1):c.455C>T (p.Pro152Leu)	WASHC1 (P152L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189546	NM_001378090.1(WASHC1):c.430G>T (p.Val144Leu)	WASHC1 (V144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189545	NM_001378090.1(WASHC1):c.420G>C (p.Lys140Asn)	WASHC1 (K140N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189558	NM_001378090.1(WASHC1):c.77G>A (p.Arg26Gln)	WASHC1 (R26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534848	NM_001378090.1(WASHC1):c.53C>T (p.Pro18Leu)	WASHC1 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 394190	GRCh37/hg19 9p24.3(chr9:13997-118241)x3	FOXD4, WASHC1	Copy number gain	See cases	GBenign
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	CHMP5, VLDLR +215 more	Copy number gain	See cases	GPathogenic
Select item 253580	GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1	WASHC1, DOCK8-AS1 +40 more	Copy number loss	See cases	GPathogenic

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Items: 51