ClinVar for Gene (Select 2622) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367570	NM_001481.3(GAS8):c.150C>A (p.Asn50Lys)	GAS8 (N25K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3354224	NM_001481.3(GAS8):c.200G>A (p.Arg67Gln)	GAS8 (R42Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	GAS8-related disorder	GUncertain significance
Select item 3348479	NM_001481.3(GAS8):c.362C>G (p.Thr121Ser)	GAS8 (T121S +2 more)	Single nucleotide variant (missense variant +1 more)	GAS8-related disorder	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 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 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 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 3243535	NC_000016.9:g.(?_90089130)_(90099352_?)dup	GAS8, GAS8-AS1	Duplication	Primary ciliary dyskinesia 33	GUncertain significance
Select item 3243534	NC_000016.9:g.(?_90089130)_(90089152_?)dup	GAS8	Duplication	Primary ciliary dyskinesia 33	GUncertain significance
Select item 3243533	NC_000016.9:g.(?_90089130)_(90109753_?)del	GAS8, GAS8-AS1	Deletion	Primary ciliary dyskinesia 33	GPathogenic
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243229	NC_000016.9:g.(?_89865554)_(90109753_?)del	CENPBD1, DBNDD1 +8 more	Deletion	Fanconi anemia	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
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 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 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 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 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 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 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 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 3035117	NM_001481.3(GAS8):c.*8C>G	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	GAS8-related disorder	GLikely benign
Select item 3030874	NM_001481.3(GAS8):c.1269G>A (p.Glu423=)	GAS8	Single nucleotide variant (synonymous variant)	GAS8-related disorder	GLikely benign
Select item 3024804	NM_001481.3(GAS8):c.90+1543C>T	GAS8, GAS8-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014931	NM_001481.3(GAS8):c.1390C>T (p.Gln464Ter)	GAS8 (Q439* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 3013994	NM_001481.3(GAS8):c.46C>G (p.Pro16Ala)	GAS8 (P16A)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 3013685	NM_001481.3(GAS8):c.607C>A (p.Arg203=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 3001041	NM_001481.3(GAS8):c.757-1G>C	GAS8	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 33	GLikely pathogenic
Select item 3000067	NM_001481.3(GAS8):c.741C>T (p.Leu247=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2995543	NM_001481.3(GAS8):c.1248C>T (p.Thr416=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2995141	NM_001481.3(GAS8):c.1002A>T (p.Arg334=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2994649	NM_001481.3(GAS8):c.756+7T>C	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2989627	NM_001481.3(GAS8):c.3+7_3+12del	GAS8	Deletion (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2980436	NM_001481.3(GAS8):c.729C>T (p.Asn243=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2967118	NM_001481.3(GAS8):c.693C>T (p.Thr231=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2959585	NM_001481.3(GAS8):c.551-11C>T	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2917505	NM_001481.3(GAS8):c.480G>C (p.Val160=)	GAS8	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2917236	NM_001481.3(GAS8):c.600C>T (p.Leu200=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2916814	NM_001481.3(GAS8):c.1221+10A>G	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2914756	NM_001481.3(GAS8):c.357G>A (p.Glu119=)	GAS8	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2904265	NM_001481.3(GAS8):c.1131T>C (p.Ala377=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2899357	NM_001481.3(GAS8):c.393C>T (p.His131=)	GAS8	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2898953	NM_001481.3(GAS8):c.97G>T (p.Glu33Ter)	GAS8 (E33* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GPathogenic
Select item 2897267	NM_001481.3(GAS8):c.123G>A (p.Glu41=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2895097	NM_001481.3(GAS8):c.937C>A (p.Arg313Ser)	GAS8 (R230S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2892102	NM_001481.3(GAS8):c.4-18C>G	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2889716	NM_001481.3(GAS8):c.4-16A>G	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2880998	NM_001481.3(GAS8):c.1365G>A (p.Lys455=)	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2876267	NM_001481.3(GAS8):c.847C>T (p.Leu283Phe)	GAS8 (L200F +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2866490	NM_001481.3(GAS8):c.91-17C>G	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2865900	NM_001481.3(GAS8):c.756+10G>A	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2831599	NM_001481.3(GAS8):c.90+11C>G	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2818743	NM_001481.3(GAS8):c.925-16C>T	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2813521	NM_001481.3(GAS8):c.775C>A (p.Arg259=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2812220	NM_001481.3(GAS8):c.975G>A (p.Gln325=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2809212	NM_001481.3(GAS8):c.551-16T>A	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2807930	NM_001481.3(GAS8):c.627C>T (p.His209=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2804391	NM_001481.3(GAS8):c.204G>A (p.Arg68=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2796484	NM_001481.3(GAS8):c.1288-14C>T	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2790895	NM_001481.3(GAS8):c.1388G>C (p.Gly463Ala)	GAS8 (G271A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2789883	NM_001481.3(GAS8):c.828C>T (p.Asn276=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2786248	NM_001481.3(GAS8):c.906G>A (p.Arg302=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2781875	NM_001481.3(GAS8):c.1425C>A (p.Gly475=)	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2769690	NM_001481.3(GAS8):c.504C>T (p.Thr168=)	GAS8	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2760477	NM_001481.3(GAS8):c.90+13G>A	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2754495	NM_001481.3(GAS8):c.1101A>G (p.Leu367=)	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2739384	NM_001481.3(GAS8):c.1279G>C (p.Val427Leu)	GAS8 (V344L +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2738714	NM_001481.3(GAS8):c.1011+19G>T	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2723833	NM_001481.3(GAS8):c.551-14C>G	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2718446	NM_001481.3(GAS8):c.486C>T (p.Asn162=)	GAS8	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2713128	NM_001481.3(GAS8):c.1338G>A (p.Gly446=)	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2709735	NM_001481.3(GAS8):c.1012-13G>A	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2706890	NM_001481.3(GAS8):c.936C>G (p.Ala312=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2704049	NM_001481.3(GAS8):c.4-7A>C	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2663811	NM_001481.3(GAS8):c.189G>A (p.Trp63Ter)	GAS8 (W38* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GPathogenic
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 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 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 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 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 2444630	NM_001481.3(GAS8):c.125T>C (p.Leu42Pro)	GAS8 (L17P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2444534	NM_001481.3(GAS8):c.558G>C (p.Glu186Asp)	GAS8 (E103D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432042	NM_001481.3(GAS8):c.925-2A>C	GAS8	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2431345	NM_001481.3(GAS8):c.495+1G>T	GAS8	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 33	GLikely pathogenic
Select item 2428604	NM_001481.3(GAS8):c.1146G>C (p.Glu382Asp)	GAS8 (E190D +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2424187	NC_000016.9:g.(?_90089130)_(90106937_?)dup	GAS8, GAS8-AS1	Duplication	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2424186	NC_000016.9:g.(?_90106688)_(90109753_?)dup	GAS8	Duplication	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2424185	NC_000016.9:g.(?_90094024)_(90099352_?)dup	GAS8, GAS8-AS1	Duplication	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2424184	NC_000016.9:g.(?_90094024)_(90109753_?)dup	GAS8, GAS8-AS1	Duplication	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2424183	NC_000016.9:g.(?_90089130)_(90089152_?)del	GAS8	Deletion	Primary ciliary dyskinesia 33	GPathogenic
Select item 2422433	NC_000016.9:g.(?_89611036)_(90106937_?)dup	CDK10, CENPBD1 +18 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	ACSF3, ANKRD11 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	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 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 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 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 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 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 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 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

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