Related gene-specific medical variations for Gene (Select 100506413) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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-AS1, DOCK4	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