"PreventionGenetics, part of Exact Sciences"[submitter] AND "SHANK1"[g - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3043594	NM_016148.5(SHANK1):c.6420A>G (p.Leu2140=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 708473	NM_016148.5(SHANK1):c.6411C>T (p.Tyr2137=)	SHANK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 727565	NM_016148.5(SHANK1):c.6271G>T (p.Gly2091Cys)	SHANK1 (G2091C)	Single nucleotide variant (missense variant)	SHANK1-related disorder +1 more	GBenign
Select item 3045093	NM_016148.5(SHANK1):c.6267G>A (p.Pro2089=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3052315	NM_016148.5(SHANK1):c.6249G>A (p.Ser2083=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3047407	NM_016148.5(SHANK1):c.6156A>G (p.Pro2052=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3047728	NM_016148.5(SHANK1):c.5889T>C (p.Ala1963=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 728902	NM_016148.5(SHANK1):c.5888C>G (p.Ala1963Gly)	SHANK1 (A1963G)	Single nucleotide variant (missense variant)	SHANK1-related disorder +1 more	GLikely benign
Select item 3038076	NM_016148.5(SHANK1):c.5732A>G (p.Tyr1911Cys)	SHANK1 (Y1911C)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GLikely benign
Select item 3034655	NM_016148.5(SHANK1):c.5427A>T (p.Ala1809=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 728412	NM_016148.5(SHANK1):c.5387G>A (p.Gly1796Glu)	SHANK1 (G1796E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3037125	NM_016148.5(SHANK1):c.5285_5308del (p.Leu1762_Arg1769del)	SHANK1	Deletion (inframe deletion)	SHANK1-related disorder	GLikely benign
Select item 2631728	NM_016148.5(SHANK1):c.4954G>C (p.Ala1652Pro)	SHANK1 (A1652P)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GUncertain significance
Select item 3049989	NM_016148.5(SHANK1):c.4899C>T (p.Thr1633=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 781516	NM_016148.5(SHANK1):c.4847C>A (p.Thr1616Asn)	SHANK1 (T1616N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2634327	NM_016148.5(SHANK1):c.4400C>G (p.Pro1467Arg)	SHANK1 (P1467R)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GUncertain significance
Select item 2634763	NM_016148.5(SHANK1):c.4367G>A (p.Gly1456Glu)	SHANK1 (G1456E)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GUncertain significance
Select item 3038661	NM_016148.5(SHANK1):c.3989C>G (p.Thr1330Ser)	SHANK1 (T1330S)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GBenign
Select item 3030228	NM_016148.5(SHANK1):c.3971G>A (p.Gly1324Glu)	SHANK1 (G1324E)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GUncertain significance
Select item 3034802	NM_016148.5(SHANK1):c.3947G>A (p.Gly1316Asp)	SHANK1 (G1316D)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GBenign
Select item 3043529	NM_016148.5(SHANK1):c.3870G>A (p.Glu1290=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3045845	NM_016148.5(SHANK1):c.3815T>C (p.Leu1272Pro)	SHANK1 (L1272P)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GBenign
Select item 3035229	NM_016148.5(SHANK1):c.3629C>A (p.Ser1210Tyr)	SHANK1 (S1210Y)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GBenign
Select item 3043789	NM_016148.5(SHANK1):c.3405G>T (p.Pro1135=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3059837	NM_016148.5(SHANK1):c.3360C>T (p.Pro1120=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GBenign
Select item 3046745	NM_016148.5(SHANK1):c.2877T>C (p.Gly959=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3060082	NM_016148.5(SHANK1):c.2691C>G (p.Asp897Glu)	SHANK1 (D897E)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GBenign
Select item 2628798	NM_016148.5(SHANK1):c.2405C>T (p.Pro802Leu)	SHANK1 (P802L)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GUncertain significance
Select item 3057610	NM_016148.5(SHANK1):c.2397G>A (p.Glu799=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3037192	NM_016148.5(SHANK1):c.2397delinsAA (p.Gln800fs)	SHANK1 (Q800fs)	Indel (frameshift variant)	SHANK1-related disorder	GLikely pathogenic
Select item 3053500	NM_016148.5(SHANK1):c.2391G>A (p.Glu797=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GBenign
Select item 3056492	NM_016148.5(SHANK1):c.2308+8T>C	SHANK1	Single nucleotide variant (intron variant)	SHANK1-related disorder	GBenign
Select item 3047717	NM_016148.5(SHANK1):c.2280G>A (p.Pro760=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3047014	NM_016148.5(SHANK1):c.1524C>T (p.Asp508=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3029088	NM_016148.5(SHANK1):c.1507G>A (p.Gly503Arg)	SHANK1 (G503R)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GUncertain significance
Select item 3043305	NM_016148.5(SHANK1):c.1416G>A (p.Ser472=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3035866	NM_016148.5(SHANK1):c.1371G>A (p.Ala457=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3050002	NM_016148.5(SHANK1):c.1338C>A (p.Pro446=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 777504	NM_016148.5(SHANK1):c.1207C>A (p.Arg403=)	SHANK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3047622	NM_016148.5(SHANK1):c.762C>T (p.Ala254=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3050025	NM_016148.5(SHANK1):c.705G>C (p.Leu235=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 719251	NM_016148.5(SHANK1):c.669C>T (p.Thr223=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder +1 more	GBenign
Select item 2634468	NM_016148.5(SHANK1):c.589C>T (p.Arg197Trp)	SHANK1 (R197W)	Single nucleotide variant (missense variant)	SHANK1-related disorder	GUncertain significance
Select item 3058951	NM_016148.5(SHANK1):c.532-3C>T	SHANK1	Single nucleotide variant (intron variant)	SHANK1-related disorder	GBenign
Select item 3053219	NM_016148.5(SHANK1):c.330C>T (p.Ser110=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign
Select item 3043494	NM_016148.5(SHANK1):c.69C>T (p.Gly23=)	SHANK1	Single nucleotide variant (synonymous variant)	SHANK1-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 46