"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SRRM2"[gen - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 782012	NM_016333.4(SRRM2):c.794CTG[1] (p.Ala266del)	SRRM2 (A266del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 735445	NM_016333.4(SRRM2):c.816C>T (p.Ser272=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646066	NM_016333.4(SRRM2):c.924G>A (p.Ala308=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646067	NM_016333.4(SRRM2):c.1015G>A (p.Asp339Asn)	SRRM2 (D339N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498643	NM_016333.4(SRRM2):c.1125C>T (p.Gly375=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646068	NM_016333.4(SRRM2):c.1282A>G (p.Thr428Ala)	SRRM2 (T428A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498644	NM_016333.4(SRRM2):c.1888C>T (p.Pro630Ser)	SRRM2 (P630S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718040	NM_016333.4(SRRM2):c.1953C>T (p.Thr651=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3025341	NM_016333.4(SRRM2):c.2220A>C (p.Arg740Ser)	SRRM2 (R740S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2646069	NM_016333.4(SRRM2):c.2562C>T (p.Ser854=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646070	NM_016333.4(SRRM2):c.2681C>T (p.Ser894Phe)	SRRM2 (S894F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646071	NM_016333.4(SRRM2):c.2725C>T (p.Pro909Ser)	SRRM2 (P909S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026455	NM_016333.4(SRRM2):c.2814T>G (p.Pro938=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559333	NM_016333.4(SRRM2):c.2933A>G (p.Lys978Arg)	SRRM2 (K978R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 719776	NM_016333.4(SRRM2):c.2988C>T (p.Tyr996=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710239	NM_016333.4(SRRM2):c.3107G>C (p.Cys1036Ser)	SRRM2 (C1036S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 732432	NM_016333.4(SRRM2):c.3246A>G (p.Glu1082=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782407	NM_016333.4(SRRM2):c.3423C>G (p.Asp1141Glu)	SRRM2 (D1141E)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2672609	NM_016333.4(SRRM2):c.3752A>G (p.Gln1251Arg)	SRRM2 (Q1251R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 807962	NM_016333.4(SRRM2):c.3891A>T (p.Glu1297Asp)	SRRM2 (E1297D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646072	NM_016333.4(SRRM2):c.3981T>C (p.Phe1327=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646073	NM_016333.4(SRRM2):c.4046C>A (p.Ser1349Tyr)	SRRM2 (S1349Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715461	NM_016333.4(SRRM2):c.4245G>A (p.Ser1415=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2672610	NM_016333.4(SRRM2):c.4382G>T (p.Gly1461Val)	SRRM2 (G1461V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2646074	NM_016333.4(SRRM2):c.4411A>G (p.Arg1471Gly)	SRRM2 (R1471G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 771914	NM_016333.4(SRRM2):c.4421C>T (p.Ser1474Phe)	SRRM2 (S1474F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646075	NM_016333.4(SRRM2):c.4727G>A (p.Arg1576Lys)	SRRM2 (R1576K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 807963	NM_016333.4(SRRM2):c.4784G>A (p.Arg1595His)	SRRM2 (R1595H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646076	NM_016333.4(SRRM2):c.4978G>C (p.Glu1660Gln)	SRRM2 (E1660Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025289	NM_016333.4(SRRM2):c.5267C>T (p.Thr1756Ile)	SRRM2 (T1756I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646077	NM_016333.4(SRRM2):c.5639C>G (p.Thr1880Ser)	SRRM2 (T1880S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2646078	NM_016333.4(SRRM2):c.5928T>C (p.Pro1976=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646079	NM_016333.4(SRRM2):c.6687C>T (p.Ala2229=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807964	NM_016333.4(SRRM2):c.6884T>C (p.Val2295Ala)	SRRM2 (V2295A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2646080	NM_016333.4(SRRM2):c.6955A>C (p.Thr2319Pro)	SRRM2 (T2319P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2646081	NM_016333.4(SRRM2):c.7092G>A (p.Ala2364=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2285604	NM_016333.4(SRRM2):c.7199C>T (p.Pro2400Leu)	SRRM2 (P2400L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2498046	NM_016333.4(SRRM2):c.7748_7758del (p.Thr2583fs)	SRRM2 (T2583fs)	Microsatellite (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2498645	NM_016333.4(SRRM2):c.7771C>T (p.Arg2591Ter)	SRRM2 (R2591*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 782013	NM_016333.4(SRRM2):c.7787C>T (p.Pro2596Leu)	SRRM2 (P2596L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 729028	NM_016333.4(SRRM2):c.7878T>C (p.Ser2626=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769891	NM_016333.4(SRRM2):c.7899T>C (p.Ser2633=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2646082	NM_016333.4(SRRM2):c.7926C>T (p.Ser2642=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646083	NM_016333.4(SRRM2):c.7932G>C (p.Ser2644=)	SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 44