"PreventionGenetics, part of Exact Sciences"[submitter] AND "RASA2"[ge - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1769363	NM_006506.5(RASA2):c.12G>A (p.Ala4=)	LOC129937686, RASA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 218684	NM_006506.5(RASA2):c.17C>T (p.Pro6Leu)	RASA2, LOC129937686 (P6L)	Single nucleotide variant (missense variant)	RASA2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 929175	NM_006506.5(RASA2):c.26C>T (p.Ala9Val)	LOC129937686, RASA2 (A9V)	Single nucleotide variant (missense variant)	RASA2-related disorder +2 more	GBenign/Likely benign
Select item 1785036	NM_006506.5(RASA2):c.204G>A (p.Leu68=)	RASA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2637155	NM_006506.5(RASA2):c.409T>C (p.Trp137Arg)	RASA2 (W137R)	Single nucleotide variant (missense variant)	RASA2-related disorder	GUncertain significance
Select item 2633085	NM_006506.5(RASA2):c.438T>G (p.Asn146Lys)	RASA2 (N146K)	Single nucleotide variant (missense variant)	RASA2-related disorder	GUncertain significance
Select item 704449	NM_006506.5(RASA2):c.451-4A>G	RASA2	Single nucleotide variant (intron variant)	RASA2-related disorder +1 more	GLikely benign
Select item 917599	NM_006506.5(RASA2):c.519T>C (p.Leu173=)	RASA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 707625	NM_006506.5(RASA2):c.528-4T>G	RASA2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 997880	NM_006506.5(RASA2):c.540C>T (p.Cys180=)	RASA2	Single nucleotide variant (synonymous variant)	RASA2-related disorder +2 more	GBenign/Likely benign
Select item 2631214	NM_006506.5(RASA2):c.611+1G>T	RASA2	Single nucleotide variant (splice donor variant)	RASA2-related disorder	GUncertain significance
Select item 3055574	NM_006506.5(RASA2):c.663T>C (p.Phe221=)	RASA2	Single nucleotide variant (synonymous variant)	RASA2-related disorder	GLikely benign
Select item 1762898	NM_006506.5(RASA2):c.831C>G (p.Asn277Lys)	RASA2 (N277K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3045181	NM_006506.5(RASA2):c.1049dup (p.Leu350fs)	RASA2 (L350fs)	Duplication (frameshift variant)	RASA2-related disorder	GUncertain significance
Select item 2632050	NM_006506.5(RASA2):c.1138G>A (p.Ala380Thr)	RASA2 (A380T)	Single nucleotide variant (missense variant)	RASA2-related disorder	GUncertain significance
Select item 917579	NM_006506.5(RASA2):c.1549G>T (p.Val517Leu)	RASA2 (V517L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 252665	NM_006506.5(RASA2):c.1603A>G (p.Ile535Val)	RASA2 (I535V)	Single nucleotide variant (missense variant)	RASA2-related disorder +2 more	GBenign/Likely benign
Select item 1607808	NM_006506.5(RASA2):c.1641T>C (p.Thr547=)	RASA2	Single nucleotide variant (synonymous variant)	RASA2-related disorder +2 more	GLikely benign
Select item 770034	NM_006506.5(RASA2):c.1689G>A (p.Glu563=)	RASA2	Single nucleotide variant (synonymous variant)	RASA2-related disorder +2 more	GLikely benign
Select item 997906	NM_006506.5(RASA2):c.1960G>A (p.Val654Ile)	RASA2 (V654I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2562697	NM_006506.5(RASA2):c.1978G>A (p.Val660Met)	RASA2 (V664M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1784049	NM_006506.5(RASA2):c.1996A>C (p.Ser666Arg)	RASA2 (S666R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 703990	NM_006506.5(RASA2):c.2163C>T (p.Asn721=)	RASA2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1339658	NM_006506.5(RASA2):c.2469T>G (p.Pro823=)	RASA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign

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Items: 24