"Ambry Genetics"[submitter] AND "ARHGAP11A-SCG5"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2611302	NM_014783.6(ARHGAP11A):c.59G>T (p.Gly20Val)	ARHGAP11A, ARHGAP11A-SCG5 +1 more (G20V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560186	NM_014783.6(ARHGAP11A):c.311A>G (p.His104Arg)	ARHGAP11A, ARHGAP11A-SCG5 (H104R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2315284	NM_014783.6(ARHGAP11A):c.641C>T (p.Ser214Phe)	ARHGAP11A, ARHGAP11A-SCG5 (S214F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366534	NM_014783.6(ARHGAP11A):c.748C>A (p.Pro250Thr)	ARHGAP11A, ARHGAP11A-SCG5 (P250T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257823	NM_014783.6(ARHGAP11A):c.752C>T (p.Ala251Val)	ARHGAP11A, ARHGAP11A-SCG5 (A251V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295656	NM_014783.6(ARHGAP11A):c.797G>A (p.Gly266Asp)	ARHGAP11A-SCG5, ARHGAP11A (G266D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514590	NM_014783.6(ARHGAP11A):c.964C>T (p.Leu322Phe)	ARHGAP11A, ARHGAP11A-SCG5 (L133F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466753	NM_014783.6(ARHGAP11A):c.990G>T (p.Leu330Phe)	ARHGAP11A, ARHGAP11A-SCG5 (L141F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248637	NM_014783.6(ARHGAP11A):c.1127A>G (p.Glu376Gly)	ARHGAP11A-SCG5, ARHGAP11A (E376G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333397	NM_014783.6(ARHGAP11A):c.1168G>A (p.Gly390Arg)	ARHGAP11A, ARHGAP11A-SCG5 (G201R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387734	NM_014783.6(ARHGAP11A):c.1264T>C (p.Ser422Pro)	ARHGAP11A, ARHGAP11A-SCG5 (S422P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403899	NM_014783.6(ARHGAP11A):c.1388G>A (p.Arg463Gln)	ARHGAP11A, ARHGAP11A-SCG5 (R274Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313524	NM_014783.6(ARHGAP11A):c.1435A>G (p.Thr479Ala)	ARHGAP11A-SCG5, ARHGAP11A (T479A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542834	NM_014783.6(ARHGAP11A):c.1445T>A (p.Leu482His)	ARHGAP11A, ARHGAP11A-SCG5 (L482H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212772	NM_014783.6(ARHGAP11A):c.1661T>C (p.Ile554Thr)	ARHGAP11A-SCG5, ARHGAP11A (I554T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245851	NM_014783.6(ARHGAP11A):c.1810T>G (p.Ser604Ala)	ARHGAP11A, ARHGAP11A-SCG5 (S604A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550264	NM_014783.6(ARHGAP11A):c.1895C>A (p.Pro632Gln)	ARHGAP11A, ARHGAP11A-SCG5 (P632Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300948	NM_014783.6(ARHGAP11A):c.2245C>T (p.Pro749Ser)	ARHGAP11A, ARHGAP11A-SCG5 (P560S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400093	NM_014783.6(ARHGAP11A):c.2246C>T (p.Pro749Leu)	ARHGAP11A, ARHGAP11A-SCG5 (P749L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2465666	NM_014783.6(ARHGAP11A):c.2363T>C (p.Leu788Ser)	ARHGAP11A, ARHGAP11A-SCG5 (L788S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 225089	NM_014783.6(ARHGAP11A):c.2370_2371del (p.Thr790_Cys791insTer)	ARHGAP11A-SCG5, ARHGAP11A	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2480889	NM_014783.6(ARHGAP11A):c.2387C>T (p.Ser796Phe)	ARHGAP11A, ARHGAP11A-SCG5 (S796F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401328	NM_014783.6(ARHGAP11A):c.2465C>T (p.Pro822Leu)	ARHGAP11A-SCG5, ARHGAP11A (P633L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237950	NM_014783.6(ARHGAP11A):c.2472A>T (p.Arg824Ser)	ARHGAP11A, ARHGAP11A-SCG5 (R635S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337629	NM_014783.6(ARHGAP11A):c.2549A>C (p.Glu850Ala)	ARHGAP11A, ARHGAP11A-SCG5 (E661A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605425	NM_014783.6(ARHGAP11A):c.2633G>T (p.Gly878Val)	ARHGAP11A, ARHGAP11A-SCG5 (G689V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601604	NM_014783.6(ARHGAP11A):c.2633G>C (p.Gly878Ala)	ARHGAP11A, ARHGAP11A-SCG5 (G878A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614989	NM_014783.6(ARHGAP11A):c.2867G>A (p.Gly956Asp)	ARHGAP11A, ARHGAP11A-SCG5 (G956D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242466	NM_014783.6(ARHGAP11A):c.2935A>G (p.Met979Val)	ARHGAP11A-SCG5, ARHGAP11A (M979V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288710	NM_014783.6(ARHGAP11A):c.2960A>T (p.Asn987Ile)	ARHGAP11A-SCG5, ARHGAP11A (N987I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570031	NM_014783.6(ARHGAP11A):c.3028G>A (p.Gly1010Arg)	ARHGAP11A, ARHGAP11A-SCG5 (G1010R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463332	NM_001144757.3(SCG5):c.482G>T (p.Gly161Val)	ARHGAP11A-SCG5, SCG5 (G160V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 32