"Ambry Genetics"[submitter] AND "LOC126863188"[gene] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1777050	NM_001372044.2(SHANK3):c.1866C>G (p.Leu622=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589209	NM_001372044.2(SHANK3):c.1894G>A (p.Asp632Asn)	LOC126863188, SHANK3 (D557N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1778044	NM_001372044.2(SHANK3):c.1878+4C>T	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2623165	NM_001372044.2(SHANK3):c.1914C>T (p.Ser638=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589788	NM_001372044.2(SHANK3):c.1944C>T (p.Val648=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1778922	NM_001372044.2(SHANK3):c.1954C>T (p.Arg652Trp)	LOC126863188, SHANK3 (R652W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327803	NM_001372044.2(SHANK3):c.1962C>G (p.His654Gln)	LOC126863188, SHANK3 (H654Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1254035	NM_001372044.2(SHANK3):c.1962-4G>A	LOC126863188, SHANK3	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1343064	NM_001372044.2(SHANK3):c.2022G>A (p.Thr674=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 235319	NM_001372044.2(SHANK3):c.2028G>A (p.Thr676=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2399997	NM_001372044.2(SHANK3):c.2102C>T (p.Thr701Met)	LOC126863188, SHANK3 (T626M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335996	NM_001372044.2(SHANK3):c.2103G>A (p.Thr701=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	SHANK3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 588762	NM_001372044.2(SHANK3):c.2118C>T (p.Ile706=)	LOC126863188, SHANK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign