"DOCK4-AS1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 545340	Single allele	DOCK4, DOCK4-AS1 +29 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 149117	GRCh38/hg38 7q31.1(chr7:111465095-111830755)x1	DOCK4, DOCK4-AS1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 153551	GRCh38/hg38 7q31.1(chr7:111482147-111855998)x1	DOCK4, DOCK4-AS1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 144370	GRCh38/hg38 7q31.1(chr7:111693844-112335449)x3	DOCK4, DOCK4-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 146458	GRCh38/hg38 7q31.1(chr7:111771934-112414850)x3	DOCK4, DOCK4-AS1 +7 more	Copy number gain	See cases	GLikely benign
Select item 545341	NC_000007.14:g.(?_111777402)_(111865491_?)del	DOCK4, DOCK4-AS1	Deletion	Autism	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 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 3030775	NM_001363540.2(DOCK4):c.3112G>A (p.Gly1038Ser)	DOCK4-AS1, DOCK4 (G1038S)	Single nucleotide variant (missense variant)	DOCK4-related disorder	GUncertain significance
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 736037	NM_001363540.2(DOCK4):c.3030C>T (p.Leu1010=)	DOCK4, DOCK4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 730741	NM_001363540.2(DOCK4):c.2937T>C (p.Ile979=)	DOCK4-AS1, DOCK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

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Items: 20