"Ambry Genetics"[submitter] AND "SS18"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2494363	NM_001007559.3(SS18):c.1174C>T (p.Pro392Ser)	SS18 (P369S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271387	NM_001007559.3(SS18):c.1097G>C (p.Gly366Ala)	SS18 (G366A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170288	NM_001007559.3(SS18):c.1070G>A (p.Gly357Asp)	SS18 (G334D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322770	NM_001007559.3(SS18):c.925G>A (p.Gly309Ser)	SS18 (G309S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257880	NM_001007559.3(SS18):c.877G>A (p.Asp293Asn)	SS18 (D270N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531249	NM_001007559.3(SS18):c.847C>T (p.Pro283Ser)	SS18 (P260S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621697	NM_001007559.3(SS18):c.836G>A (p.Gly279Glu)	SS18 (G279E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322767	NM_001007559.3(SS18):c.809A>G (p.Tyr270Cys)	SS18 (Y247C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513796	NM_001007559.3(SS18):c.696G>A (p.Met232Ile)	SS18 (M209I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301467	NM_001007559.3(SS18):c.694A>G (p.Met232Val)	SS18 (M209V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535922	NM_001007559.3(SS18):c.649A>G (p.Met217Val)	SS18 (M217V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588064	NM_001007559.3(SS18):c.613A>G (p.Met205Val)	SS18 (M205V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294756	NM_001007559.3(SS18):c.594G>T (p.Met198Ile)	SS18 (M175I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460001	NM_001007559.3(SS18):c.588G>A (p.Met196Ile)	SS18 (M173I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322768	NM_001007559.3(SS18):c.559A>G (p.Met187Val)	SS18 (M187V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322769	NM_001007559.3(SS18):c.325A>C (p.Met109Leu)	SS18 (M109L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282424	NM_001007559.3(SS18):c.238A>T (p.Thr80Ser)	SS18 (T57S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364937	NM_001007559.3(SS18):c.86A>G (p.Asn29Ser)	SS18 (N29S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596412	NM_001007559.3(SS18):c.56C>T (p.Ala19Val)	SS18 (A19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance