"Ambry Genetics"[submitter] AND "LOC126861888"[gene] - ClinVar - NCBI

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

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2465538	NM_001170629.2(CHD8):c.7064C>T (p.Ala2355Val)	CHD8, LOC126861888 (A2355V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3144217	NM_001170629.2(CHD8):c.7048G>C (p.Asp2350His)	CHD8, LOC126861888 (D2071H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 196943	NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys)	CHD8, LOC126861888 (E2067K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 589428	NM_001170629.2(CHD8):c.7010T>A (p.Leu2337Gln)	CHD8, LOC126861888 (L2058Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274492	NM_001170629.2(CHD8):c.6998G>A (p.Arg2333His)	CHD8, LOC126861888 (R2054H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1756440	NM_001170629.2(CHD8):c.6985G>A (p.Glu2329Lys)	CHD8, LOC126861888 (E2050K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589151	NM_001170629.2(CHD8):c.6836G>T (p.Gly2279Val)	LOC126861888, CHD8 (G2000V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589553	NM_001170629.2(CHD8):c.6830G>C (p.Gly2277Ala)	CHD8, LOC126861888 (G1998A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 589146	NM_001170629.2(CHD8):c.6816G>A (p.Ala2272=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2220873	NM_001170629.2(CHD8):c.6815C>T (p.Ala2272Val)	CHD8, LOC126861888 (A2272V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1755467	NM_001170629.2(CHD8):c.6795C>T (p.Phe2265=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity