"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2627582	NM_001363540.2(DOCK4):c.3937del (p.Asp1313fs)	DOCK4 (D1304fs +1 more)	Deletion (frameshift 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 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 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 2627581	NM_001363540.2(DOCK4):c.2770C>T (p.Arg924Ter)	DOCK4 (R924*)	Single nucleotide variant (nonsense)	Neurodevelopmental 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 2627580	NM_001363540.2(DOCK4):c.892C>T (p.Arg298Ter)	DOCK4 (R298*)	Single nucleotide variant (nonsense)	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