"Ambry Genetics"[submitter] AND "RABL2A"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2509358	NM_001306158.2(RABL2A):c.10G>A (p.Asp4Asn)	RABL2A (D4N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2367621	NM_001306158.2(RABL2A):c.23C>T (p.Pro8Leu)	RABL2A (P8L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2606090	NM_001306158.2(RABL2A):c.26G>A (p.Ser9Asn)	RABL2A (S9N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2255344	NM_001306158.2(RABL2A):c.77G>A (p.Cys26Tyr)	RABL2A (C26Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2297319	NM_001306158.2(RABL2A):c.112A>C (p.Met38Leu)	RABL2A (M38L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2384189	NM_001306158.2(RABL2A):c.243G>T (p.Glu81Asp)	RABL2A (E81D)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2386228	NM_001306158.2(RABL2A):c.269A>C (p.Tyr90Ser)	RABL2A (Y5S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2459829	NM_001306158.2(RABL2A):c.295A>G (p.Met99Val)	RABL2A (M14V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2459214	NM_001306158.2(RABL2A):c.398A>G (p.Asn133Ser)	RABL2A (N41S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215080	NM_001306158.2(RABL2A):c.413A>C (p.Asp138Ala)	RABL2A (D137A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284364	NM_001306158.2(RABL2A):c.421G>A (p.Val141Met)	RABL2A (V140M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320600	NM_001306158.2(RABL2A):c.527G>A (p.Arg176Gln)	RABL2A (R83Q +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597758	NM_001306158.2(RABL2A):c.629A>C (p.Asp210Ala)	RABL2A (D125A +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance