"Ambry Genetics"[submitter] AND "GAS8"[gene] - ClinVar

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

Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280818	NM_001481.3(GAS8):c.97G>A (p.Glu33Lys)	GAS8 (E33K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3098682	NM_001481.3(GAS8):c.109C>T (p.Arg37Cys)	GAS8 (R37C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 839815	NM_001481.3(GAS8):c.131G>A (p.Arg44His)	GAS8 (R19H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	See cases +2 more	GUncertain significance
Select item 3098683	NM_001481.3(GAS8):c.136C>T (p.Arg46Trp)	GAS8 (R21W +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547463	NM_001481.3(GAS8):c.137G>T (p.Arg46Leu)	GAS8 (R21L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3098684	NM_001481.3(GAS8):c.175A>T (p.Ile59Phe)	GAS8 (I34F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3098685	NM_001481.3(GAS8):c.217A>G (p.Lys73Glu)	GAS8 (K48E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380946	NM_001481.3(GAS8):c.220A>G (p.Lys74Glu)	GAS8 (K49E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380947	NM_001481.3(GAS8):c.221A>C (p.Lys74Thr)	GAS8 (K49T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411188	NM_001481.3(GAS8):c.232C>T (p.Arg78Trp)	GAS8 (R53W +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1442440	NM_001481.3(GAS8):c.250A>C (p.Met84Leu)	GAS8 (M59L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2269475	NM_001481.3(GAS8):c.285C>G (p.Ile95Met)	GAS8 (I12M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3098686	NM_001481.3(GAS8):c.394C>T (p.Arg132Cys)	GAS8 (R49C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3098687	NM_001481.3(GAS8):c.395G>A (p.Arg132His)	GAS8 (R132H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537917	NM_001481.3(GAS8):c.405G>C (p.Glu135Asp)	GAS8 (E110D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3098688	NM_001481.3(GAS8):c.475G>C (p.Val159Leu)	GAS8 (V159L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1464615	NM_001481.3(GAS8):c.554T>C (p.Ile185Thr)	GAS8 (I160T +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 952372	NM_001481.3(GAS8):c.607C>T (p.Arg203Trp)	GAS8 (R11W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3280815	NM_001481.3(GAS8):c.662C>T (p.Thr221Met)	GAS8 (T138M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2159293	NM_001481.3(GAS8):c.715G>T (p.Asp239Tyr)	GAS8 (D156Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 475568	NM_001481.3(GAS8):c.808G>C (p.Ala270Pro)	GAS8 (A245P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 847340	NM_001481.3(GAS8):c.838G>A (p.Ala280Thr)	GAS8 (A197T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2267677	NM_001481.3(GAS8):c.859C>T (p.Arg287Trp)	GAS8 (R287W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336943	NM_001481.3(GAS8):c.881A>G (p.Gln294Arg)	GAS8 (Q211R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098689	NM_001481.3(GAS8):c.883A>G (p.Lys295Glu)	GAS8 (K212E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322941	NM_001481.3(GAS8):c.1001G>A (p.Arg334Gln)	GAS8 (R334Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1506591	NM_001481.3(GAS8):c.1012G>T (p.Val338Leu)	GAS8 (V313L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 1007688	NM_001481.3(GAS8):c.1024C>T (p.Arg342Trp)	GAS8 (R150W +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2379118	NM_001481.3(GAS8):c.1025G>A (p.Arg342Gln)	GAS8 (R317Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457890	NM_001481.3(GAS8):c.1030G>A (p.Glu344Lys)	GAS8 (E152K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2182469	NM_001481.3(GAS8):c.1034T>G (p.Leu345Arg)	GAS8 (L153R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 2260299	NM_001481.3(GAS8):c.1040G>A (p.Arg347Gln)	GAS8 (R264Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2047509	NM_001481.3(GAS8):c.1064A>T (p.Glu355Val)	GAS8 (E163V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 650359	NM_001481.3(GAS8):c.1105C>T (p.Arg369Cys)	GAS8 (R177C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 3280819	NM_001481.3(GAS8):c.1151A>G (p.Gln384Arg)	GAS8 (Q192R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327908	NM_001481.3(GAS8):c.1157A>G (p.Asn386Ser)	GAS8 (N194S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1440836	NM_001481.3(GAS8):c.1235C>T (p.Ser412Leu)	GAS8 (S220L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 570987	NM_001481.3(GAS8):c.1255G>A (p.Asp419Asn)	GAS8 (D394N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2611360	NM_001481.3(GAS8):c.1285A>G (p.Lys429Glu)	GAS8 (K237E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280817	NM_001481.3(GAS8):c.1297G>C (p.Asp433His)	GAS8 (D350H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 475561	NM_001481.3(GAS8):c.1297G>A (p.Asp433Asn)	GAS8 (D433N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2464481	NM_001481.3(GAS8):c.1307G>A (p.Arg436His)	GAS8 (R353H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2048643	NM_001481.3(GAS8):c.1354G>A (p.Val452Met)	GAS8 (V452M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 842274	NM_001481.3(GAS8):c.1378G>C (p.Ala460Pro)	GAS8 (A435P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 955241	NM_001481.3(GAS8):c.1400G>A (p.Gly467Asp)	GAS8 (G384D +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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: 45