Related gene-specific medical variations for Gene (Select 9732) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3085013	NM_001363540.2(DOCK4):c.2190G>C (p.Glu730Asp)	DOCK4, LOC126860153 (E730D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030775	NM_001363540.2(DOCK4):c.3112G>A (p.Gly1038Ser)	DOCK4, DOCK4-AS1 (G1038S)	Single nucleotide variant (missense variant)	DOCK4-related disorder	GUncertain significance
Select item 2688964	NM_001363540.2(DOCK4):c.550-1G>T	DOCK4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2628428	NM_001363540.2(DOCK4):c.4286G>A (p.Arg1429Gln)	DOCK4, LOC126860152 (R1420Q +1 more)	Single nucleotide variant (missense variant)	DOCK4-related disorder	GUncertain significance
Select item 2627585	NM_001363540.2(DOCK4):c.1258G>A (p.Val420Met)	DOCK4 (V420M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627584	NM_001363540.2(DOCK4):c.758C>T (p.Pro253Leu)	DOCK4 (P253L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627583	NM_001363540.2(DOCK4):c.3125T>C (p.Val1042Ala)	DOCK4, DOCK4-AS1 (V1042A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627582	NM_001363540.2(DOCK4):c.3937del (p.Asp1313fs)	DOCK4 (D1304fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627581	NM_001363540.2(DOCK4):c.2770C>T (p.Arg924Ter)	DOCK4 (R924*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 2627580	NM_001363540.2(DOCK4):c.892C>T (p.Arg298Ter)	DOCK4 (R298*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 2627579	NM_001363540.2(DOCK4):c.5913G>T (p.Lys1971Asn)	DOCK4 (K1962N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627578	NM_001363540.2(DOCK4):c.4040G>A (p.Arg1347Gln)	DOCK4 (R1338Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627577	NM_001363540.2(DOCK4):c.3200T>C (p.Ile1067Thr)	DOCK4 (I1067T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627576	NM_001363540.2(DOCK4):c.3131T>C (p.Met1044Thr)	DOCK4, DOCK4-AS1 (M1044T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627575	NM_001363540.2(DOCK4):c.2945C>T (p.Thr982Ile)	DOCK4, DOCK4-AS1 (T982I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2571305	GRCh37/hg19 7q31.1(chr7:111366166-111682388)x1	DOCK4	Copy number loss	not provided	GUncertain significance
Select item 2505082	GRCh37/hg19 7q31.1(chr7:111339228-111473040)x3	DOCK4	Copy number gain	not provided	Gnot provided
Select item 2480811	NM_001363540.2(DOCK4):c.4241A>G (p.Lys1414Arg)	DOCK4, LOC126860152 (K1405R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477232	NM_001363540.2(DOCK4):c.2966C>G (p.Ala989Gly)	DOCK4, DOCK4-AS1 (A989G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403864	NM_001363540.2(DOCK4):c.2247G>C (p.Glu749Asp)	DOCK4, LOC126860153 (E749D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391168	NM_001363540.2(DOCK4):c.2935A>G (p.Ile979Val)	DOCK4, DOCK4-AS1 (I979V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338155	NM_001363540.2(DOCK4):c.2980T>C (p.Phe994Leu)	DOCK4, DOCK4-AS1 (F994L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808540	GRCh37/hg19 7q31.1(chr7:111284148-111676080)x1	DOCK4	Copy number loss	not provided	GUncertain significance
Select item 1676345	NM_014705.4(DOCK4):c.2027+14T>A	DOCK4	Single nucleotide variant	not provided	GBenign
Select item 1341049	GRCh37/hg19 7q31.1(chr7:111642646-111704409)x1	DOCK4	Copy number loss	not provided	GUncertain significance
Select item 1340217	GRCh37/hg19 7q31.1(chr7:111324658-111538227)x1	DOCK4	Copy number loss	not provided	GUncertain significance
Select item 979642	GRCh37/hg19 7q31.1(chr7:111237776-111464082)x1	DOCK4	Copy number loss	not provided	GUncertain significance
Select item 979640	GRCh37/hg19 7q31.1(chr7:111227710-111427735)x3	DOCK4	Copy number gain	not provided	GUncertain significance
Select item 736037	NM_001363540.2(DOCK4):c.3030C>T (p.Leu1010=)	DOCK4, DOCK4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730741	NM_001363540.2(DOCK4):c.2937T>C (p.Ile979=)	DOCK4, DOCK4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726093	NM_001363540.2(DOCK4):c.4215G>A (p.Gln1405=)	DOCK4, LOC126860152	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722945	NM_001363540.2(DOCK4):c.3083C>A (p.Ser1028Tyr)	DOCK4, DOCK4-AS1 (S1028Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 689024	GRCh37/hg19 7q31.1(chr7:111580450-111715471)x1	DOCK4	Copy number loss	not provided	GUncertain significance
Select item 686551	GRCh37/hg19 7q31.1(chr7:111558284-111759659)x3	DOCK4	Copy number gain	not provided	GUncertain significance
Select item 393736	GRCh37/hg19 7q31.1(chr7:111554114-111805855)x1	DOCK4	Copy number loss	See cases	GLikely benign
Select item 157071	NC_000007.13:g.111433419_111630024del	DOCK4	Deletion	Normal pregnancy	Gnot provided
Select item 145809	GRCh38/hg38 7q31.1(chr7:112092584-112144255)x1	DOCK4	Copy number loss	See cases	GBenign

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Links from Gene

Items: 37