"PreventionGenetics, part of Exact Sciences"[submitter] AND "SRRM2"[ge - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631589	NM_016333.4(SRRM2):c.339_340dup (p.Gln114fs)	LOC126862261, SRRM2 (Q114fs)	Duplication (frameshift variant)	SRRM2-related condition	GLikely pathogenic
Select item 3050567	NM_016333.4(SRRM2):c.986A>G (p.Lys329Arg)	SRRM2 (K329R)	Single nucleotide variant (missense variant)	SRRM2-related condition	GLikely benign
Select item 3032062	NM_016333.4(SRRM2):c.1195C>T (p.Pro399Ser)	SRRM2 (P399S)	Single nucleotide variant (missense variant)	SRRM2-related condition	GLikely benign
Select item 2636913	NM_016333.4(SRRM2):c.1495A>G (p.Thr499Ala)	SRRM2 (T499A)	Single nucleotide variant (missense variant)	SRRM2-related condition	GUncertain significance
Select item 2631671	NM_016333.4(SRRM2):c.2002C>A (p.Arg668Ser)	SRRM2 (R668S)	Single nucleotide variant (missense variant)	SRRM2-related condition	GUncertain significance
Select item 3060322	NM_016333.4(SRRM2):c.2118C>T (p.Ser706=)	SRRM2	Single nucleotide variant (synonymous variant)	SRRM2-related condition	GBenign
Select item 3051481	NM_016333.4(SRRM2):c.2736ATC[1] (p.Ser914del)	SRRM2 (S914del)	Microsatellite (inframe deletion)	SRRM2-related condition	GLikely benign
Select item 2633956	NM_016333.4(SRRM2):c.3004C>T (p.Gln1002Ter)	SRRM2 (Q1002*)	Single nucleotide variant (nonsense)	SRRM2-related condition	GLikely pathogenic
Select item 710239	NM_016333.4(SRRM2):c.3107G>C (p.Cys1036Ser)	SRRM2 (C1036S)	Single nucleotide variant (missense variant)	SRRM2-related condition +1 more	GLikely benign
Select item 3060066	NM_016333.4(SRRM2):c.3633G>A (p.Arg1211=)	SRRM2	Single nucleotide variant (synonymous variant)	SRRM2-related condition	GBenign
Select item 3049229	NM_016333.4(SRRM2):c.3774A>G (p.Ser1258=)	SRRM2	Single nucleotide variant (synonymous variant)	SRRM2-related condition	GLikely benign
Select item 3049778	NM_016333.4(SRRM2):c.4046C>T (p.Ser1349Phe)	SRRM2 (S1349F)	Single nucleotide variant (missense variant)	SRRM2-related condition	GLikely benign
Select item 2672610	NM_016333.4(SRRM2):c.4382G>T (p.Gly1461Val)	SRRM2 (G1461V)	Single nucleotide variant (missense variant)	SRRM2-related condition +1 more	GLikely benign
Select item 2636260	NM_016333.4(SRRM2):c.5996C>T (p.Ser1999Phe)	SRRM2 (S1999F)	Single nucleotide variant (missense variant)	SRRM2-related condition	GUncertain significance
Select item 3050263	NM_016333.4(SRRM2):c.6154C>T (p.Arg2052Cys)	SRRM2 (R2052C)	Single nucleotide variant (missense variant)	SRRM2-related condition	GLikely benign
Select item 2633719	NM_016333.4(SRRM2):c.6319G>A (p.Val2107Ile)	SRRM2 (V2107I)	Single nucleotide variant (missense variant)	SRRM2-related condition	GUncertain significance
Select item 2629581	NM_016333.4(SRRM2):c.6802A>G (p.Met2268Val)	SRRM2 (M2268V)	Single nucleotide variant (missense variant)	SRRM2-related condition	GUncertain significance
Select item 3033150	NM_016333.4(SRRM2):c.7132G>A (p.Ala2378Thr)	SRRM2 (A2378T)	Single nucleotide variant (missense variant)	SRRM2-related condition	GUncertain significance
Select item 2630697	NM_016333.4(SRRM2):c.7152G>C (p.Arg2384Ser)	SRRM2 (R2384S)	Single nucleotide variant (missense variant)	SRRM2-related condition	GUncertain significance
Select item 2398337	NM_016333.4(SRRM2):c.7259C>T (p.Thr2420Ile)	SRRM2 (T2420I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 20