Related gene-specific medical variations for Gene (Select 80005) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273376	NM_024940.8(DOCK5):c.2941G>A (p.Asp981Asn)	DOCK5, LOC105379331 (D981N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273375	NM_024940.8(DOCK5):c.2913C>A (p.His971Gln)	DOCK5, LOC105379331 (H971Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085039	NM_024940.8(DOCK5):c.2846A>G (p.His949Arg)	DOCK5, LOC105379331 (H949R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085037	NM_024940.8(DOCK5):c.2666A>G (p.Gln889Arg)	LOC121740712, DOCK5 (Q889R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085027	NM_024940.8(DOCK5):c.1118T>C (p.Ile373Thr)	DOCK5, LOC113788273 (I373T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348786	NM_024940.8(DOCK5):c.2837A>T (p.Gln946Leu)	DOCK5, LOC105379331 (Q946L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339195	NM_024940.8(DOCK5):c.2940A>C (p.Gln980His)	DOCK5, LOC105379331 (Q980H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327536	NM_024940.8(DOCK5):c.2818G>A (p.Val940Met)	DOCK5, LOC105379331 (V940M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294151	NM_024940.8(DOCK5):c.1152T>G (p.Asn384Lys)	DOCK5, LOC113788273 (N384K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256011	NM_024940.8(DOCK5):c.2843C>T (p.Pro948Leu)	DOCK5, LOC105379331 (P948L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250598	NM_024940.8(DOCK5):c.2839T>C (p.Ser947Pro)	DOCK5, LOC105379331 (S947P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809493	GRCh37/hg19 8p21.2(chr8:24998987-25158155)x3	DOCK5	Copy number gain	not provided	GUncertain significance
Select item 1340488	GRCh37/hg19 8p21.2(chr8:24976628-25077779)x1	DOCK5	Copy number loss	not provided	GLikely benign
Select item 779429	NM_024940.8(DOCK5):c.1192+7_1192+37del	DOCK5, LOC113788273	Deletion (intron variant)	not provided	GBenign