"PreventionGenetics, part of Exact Sciences"[submitter] AND "SHANK2"[g - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044938	NM_012309.5(SHANK2):c.5241C>T (p.Pro1747=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	SHANK2-related disorder	GLikely benign
Select item 2628517	NM_012309.5(SHANK2):c.5225G>T (p.Ser1742Ile)	SHANK2 (S1154I +2 more)	Single nucleotide variant (missense variant +1 more)	SHANK2-related disorder	GUncertain significance
Select item 3044250	NM_012309.5(SHANK2):c.5079G>A (p.Arg1693=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	SHANK2-related disorder	GLikely benign
Select item 3039526	NM_012309.5(SHANK2):c.4562C>T (p.Ser1521Phe)	SHANK2 (S1142F +2 more)	Single nucleotide variant (missense variant)	SHANK2-related disorder	GLikely benign
Select item 3038152	NM_012309.5(SHANK2):c.4323G>A (p.Lys1441=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder	GLikely benign
Select item 3050502	NM_012309.5(SHANK2):c.4243C>A (p.Leu1415Met)	SHANK2 (L1036M +2 more)	Single nucleotide variant (missense variant)	SHANK2-related disorder	GLikely benign
Select item 436715	NM_012309.5(SHANK2):c.4161_4166dup (p.Leu1387_Pro1388dup)	SHANK2	Duplication (inframe_insertion)	SHANK2-related disorder +2 more	GBenign/Likely benign
Select item 3043855	NM_012309.5(SHANK2):c.3918C>T (p.Ser1306=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder	GLikely benign
Select item 2637265	NM_012309.5(SHANK2):c.3527C>T (p.Thr1176Met)	SHANK2 (T1176M +2 more)	Single nucleotide variant (missense variant)	SHANK2-related disorder	GUncertain significance
Select item 3041654	NM_012309.5(SHANK2):c.3156C>G (p.Ser1052Arg)	SHANK2 (S1052R +2 more)	Single nucleotide variant (missense variant)	SHANK2-related disorder	GBenign
Select item 2629084	NM_012309.5(SHANK2):c.2590C>T (p.Arg864Trp)	SHANK2 (R276W +2 more)	Single nucleotide variant (missense variant)	SHANK2-related disorder	GUncertain significance
Select item 3049931	NM_012309.5(SHANK2):c.2548A>C (p.Ile850Leu)	SHANK2 (I262L +2 more)	Single nucleotide variant (missense variant)	SHANK2-related disorder	GLikely benign
Select item 3036094	NM_012309.5(SHANK2):c.2397G>A (p.Gln799=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	SHANK2-related disorder	GLikely benign
Select item 3050118	NM_012309.5(SHANK2):c.2143A>C (p.Lys715Gln)	SHANK2 (K127Q +2 more)	Single nucleotide variant (missense variant +1 more)	SHANK2-related disorder	GLikely benign
Select item 2628972	NM_012309.5(SHANK2):c.1708G>A (p.Gly570Ser)	SHANK2 (G191S +1 more)	Single nucleotide variant (missense variant)	SHANK2-related disorder	GUncertain significance
Select item 2642088	NM_012309.5(SHANK2):c.1670G>A (p.Ser557Asn)	SHANK2 (S178N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3056389	NM_012309.5(SHANK2):c.1511G>A (p.Gly504Asp)	SHANK2 (G125D +1 more)	Single nucleotide variant (missense variant)	SHANK2-related disorder	GBenign
Select item 3038403	NM_012309.5(SHANK2):c.1146C>T (p.Tyr382=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder	GBenign
Select item 305906	NM_012309.5(SHANK2):c.900C>T (p.His300=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3030806	NM_012309.5(SHANK2):c.891C>T (p.Asn297=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder	GLikely benign
Select item 3031430	NM_012309.5(SHANK2):c.885T>C (p.Asp295=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder	GLikely benign
Select item 3045867	NM_012309.5(SHANK2):c.823G>A (p.Gly275Arg)	SHANK2 (G275R)	Single nucleotide variant (missense variant)	SHANK2-related disorder	GLikely benign
Select item 305908	NM_012309.5(SHANK2):c.771A>G (p.Pro257=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3054623	NM_012309.5(SHANK2):c.660T>C (p.Gly220=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder	GLikely benign
Select item 305913	NM_012309.5(SHANK2):c.613G>T (p.Ala205Ser)	SHANK2 (A205S)	Single nucleotide variant (missense variant)	SHANK2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3054405	NM_012309.5(SHANK2):c.612C>T (p.Ala204=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder	GLikely benign
Select item 3056635	NM_012309.5(SHANK2):c.593-7T>C	SHANK2	Single nucleotide variant (intron variant)	SHANK2-related disorder	GLikely benign
Select item 3045460	NM_012309.5(SHANK2):c.582G>A (p.Pro194=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder	GLikely benign
Select item 305916	NM_012309.5(SHANK2):c.520C>T (p.Arg174Cys)	SHANK2 (R174C)	Single nucleotide variant (missense variant)	SHANK2-related disorder +1 more	GBenign/Likely benign
Select item 509326	NM_012309.5(SHANK2):c.412-9C>T	SHANK2	Single nucleotide variant (intron variant)	SHANK2-related disorder +1 more	GLikely benign
Select item 3058376	NM_012309.5(SHANK2):c.411+5A>G	SHANK2	Single nucleotide variant (intron variant)	SHANK2-related disorder	GLikely benign
Select item 3047435	NM_012309.5(SHANK2):c.318G>A (p.Pro106=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder	GLikely benign
Select item 3061121	NM_012309.5(SHANK2):c.247G>T (p.Ala83Ser)	SHANK2 (A83S)	Single nucleotide variant (missense variant)	SHANK2-related disorder	GUncertain significance
Select item 3047862	NM_012309.5(SHANK2):c.135C>T (p.Gly45=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder	GLikely benign
Select item 3031189	NM_012309.5(SHANK2):c.132G>A (p.Pro44=)	SHANK2	Single nucleotide variant (synonymous variant)	SHANK2-related disorder	GLikely benign
Select item 1176582	NM_012309.5(SHANK2):c.84C>T (p.Ser28=)	SHANK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3057016	NM_012309.5(SHANK2):c.5C>T (p.Pro2Leu)	SHANK2 (P2L)	Single nucleotide variant (missense variant)	SHANK2-related disorder	GBenign

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Items: 37