"Ambry Genetics"[submitter] AND "RIC8A"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2524835	NM_001286134.2(RIC8A):c.49G>A (p.Val17Met)	RIC8A (V17M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342286	NM_001286134.2(RIC8A):c.62C>T (p.Ala21Val)	RIC8A (A21V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613381	NM_001286134.2(RIC8A):c.85C>A (p.His29Asn)	RIC8A (H29N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2280392	NM_001286134.2(RIC8A):c.368A>G (p.Asn123Ser)	RIC8A (N127S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217482	NM_001286134.2(RIC8A):c.381C>G (p.Ser127Arg)	RIC8A (S127R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362566	NM_001286134.2(RIC8A):c.649G>A (p.Glu217Lys)	RIC8A (E107K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394135	NM_001286134.2(RIC8A):c.664A>G (p.Met222Val)	RIC8A (M222V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590338	NM_001286134.2(RIC8A):c.718G>A (p.Val240Met)	RIC8A (V130M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591208	NM_001286134.2(RIC8A):c.739C>T (p.Leu247Phe)	RIC8A (L247F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546596	NM_001286134.2(RIC8A):c.750C>G (p.His250Gln)	RIC8A (H140Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249898	NM_001286134.2(RIC8A):c.784G>A (p.Ala262Thr)	RIC8A (A262T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397329	NM_001286134.2(RIC8A):c.800G>A (p.Arg267His)	RIC8A (R157H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613559	NM_001286134.2(RIC8A):c.1030A>C (p.Met344Leu)	RIC8A (M234L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293181	NM_001286134.2(RIC8A):c.1066-5C>T	RIC8A (P360L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483802	NM_001286134.2(RIC8A):c.1321A>G (p.Thr441Ala)	RIC8A (T447A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408980	NM_001286134.2(RIC8A):c.1384G>A (p.Glu462Lys)	RIC8A (E352K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460932	NM_001286134.2(RIC8A):c.1546G>A (p.Glu516Lys)	RIC8A (E406K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523409	NM_001286134.2(RIC8A):c.1559A>G (p.Gln520Arg)	RIC8A (Q524R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330674	NM_001286134.2(RIC8A):c.1577C>T (p.Pro526Leu)	RIC8A (P530L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance