"Ambry Genetics"[submitter] AND "SHANK2"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2271782	NM_012309.5(SHANK2):c.5471dup (p.Asp1824fs)	SHANK2 (D1445fs +2 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350589	NM_012309.5(SHANK2):c.4780G>A (p.Ala1594Thr)	SHANK2 (A1006T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2230352	NM_012309.5(SHANK2):c.4696G>A (p.Ala1566Thr)	SHANK2 (A1187T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230443	NM_012309.5(SHANK2):c.4337C>T (p.Pro1446Leu)	SHANK2 (P858L +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 212166	NM_012309.5(SHANK2):c.4195G>A (p.Val1399Met)	SHANK2 (V1399M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2309331	NM_012309.5(SHANK2):c.4172T>G (p.Ile1391Ser)	SHANK2 (I803S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238197	NM_012309.5(SHANK2):c.4087G>A (p.Ala1363Thr)	SHANK2 (A1363T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271781	NM_012309.5(SHANK2):c.3851C>G (p.Thr1284Ser)	SHANK2 (T696S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236216	NM_012309.5(SHANK2):c.3547G>A (p.Glu1183Lys)	SHANK2 (E1183K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263045	NM_012309.5(SHANK2):c.3542G>A (p.Gly1181Glu)	SHANK2 (G802E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985699	NM_012309.5(SHANK2):c.2726C>T (p.Pro909Leu)	SHANK2 (P321L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207677	NM_012309.5(SHANK2):c.2662C>T (p.Pro888Ser)	SHANK2 (P509S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2271786	NM_012309.5(SHANK2):c.2651C>T (p.Ser884Phe)	SHANK2 (S505F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2290469	NM_012309.5(SHANK2):c.2479A>G (p.Thr827Ala)	SHANK2 (T448A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277905	NM_012309.5(SHANK2):c.2348G>A (p.Arg783His)	SHANK2 (R404H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236217	NM_012309.5(SHANK2):c.2297G>A (p.Arg766Gln)	SHANK2 (R178Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3161536	NM_012309.5(SHANK2):c.2277C>T (p.Leu759=)	SHANK2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3161535	NM_012309.5(SHANK2):c.1827C>G (p.Gly609=)	SHANK2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2229436	NM_012309.5(SHANK2):c.1826G>A (p.Gly609Asp)	SHANK2 (G230D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3161534	NM_012309.5(SHANK2):c.1825G>A (p.Gly609Ser)	SHANK2 (G609S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2386867	NM_012309.5(SHANK2):c.817A>C (p.Ile273Leu)	SHANK2 (I273L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1325553	NM_012309.5(SHANK2):c.790G>A (p.Gly264Ser)	SHANK2 (G264S)	Single nucleotide variant (missense variant)	Autism, susceptibility to, 17 +1 more	GUncertain significance
Select item 2603868	NM_012309.5(SHANK2):c.745-6T>C	SHANK2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 806715	NM_012309.5(SHANK2):c.679C>T (p.Arg227Cys)	SHANK2 (R227C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2351663	NM_012309.5(SHANK2):c.637G>T (p.Val213Phe)	SHANK2 (V213F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 305912	NM_012309.5(SHANK2):c.625G>A (p.Asp209Asn)	SHANK2 (D209N)	Single nucleotide variant (missense variant)	Autism spectrum disorder +2 more	GConflicting classifications of pathogenicity
Select item 3161538	NM_012309.5(SHANK2):c.576C>A (p.His192Gln)	SHANK2 (H192Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409485	NM_012309.5(SHANK2):c.572T>C (p.Phe191Ser)	SHANK2 (F191S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261912	NM_012309.5(SHANK2):c.562G>C (p.Asp188His)	SHANK2 (D188H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364258	NM_012309.5(SHANK2):c.506A>G (p.Asp169Gly)	SHANK2 (D169G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2277229	NM_012309.5(SHANK2):c.483+6C>T	SHANK2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2374749	NM_012309.5(SHANK2):c.479C>T (p.Thr160Met)	SHANK2 (T160M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616632	NM_012309.5(SHANK2):c.403T>A (p.Ser135Thr)	SHANK2 (S135T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231098	NM_012309.5(SHANK2):c.367C>T (p.Arg123Cys)	SHANK2 (R123C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 305923	NM_012309.5(SHANK2):c.332G>A (p.Arg111His)	SHANK2 (R111H)	Single nucleotide variant (missense variant)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 521243	NM_012309.5(SHANK2):c.277C>T (p.Gln93Ter)	SHANK2 (Q93*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 3161537	NM_012309.5(SHANK2):c.269C>T (p.Thr90Ile)	SHANK2 (T90I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236761	NM_012309.5(SHANK2):c.233C>G (p.Ala78Gly)	SHANK2 (A78G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 870793	NM_012309.5(SHANK2):c.227C>T (p.Pro76Leu)	SHANK2 (P76L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2288066	NM_012309.5(SHANK2):c.218G>C (p.Arg73Pro)	SHANK2 (R73P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391891	NM_012309.5(SHANK2):c.164A>G (p.Asn55Ser)	SHANK2 (N55S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 305928	NM_012309.5(SHANK2):c.136G>A (p.Gly46Ser)	SHANK2 (G46S)	Single nucleotide variant (missense variant)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 2596113	NM_012309.5(SHANK2):c.113G>A (p.Arg38Gln)	SHANK2 (R38Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229126	NM_012309.5(SHANK2):c.112C>T (p.Arg38Trp)	SHANK2 (R38W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547152	NM_012309.5(SHANK2):c.61G>A (p.Val21Met)	SHANK2 (V21M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 305930	NM_012309.5(SHANK2):c.7C>T (p.Arg3Cys)	SHANK2 (R3C)	Single nucleotide variant (missense variant)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity

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Items: 46