ClinVar for MedGen (Select 898734) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 (synonymous 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 (intron 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 (synonymous 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 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 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	FANCA, MC1R +45 more	Duplication	Primary ciliary dyskinesia 33 +1 more	GUncertain significance
Select item 2411188	NM_001481.3(GAS8):c.232C>T (p.Arg78Trp)	GAS8 (R53W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2201812	NM_001481.3(GAS8):c.887del (p.Gln296fs)	GAS8 (Q104fs +3 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 33	GPathogenic
Select item 2197379	NM_001481.3(GAS8):c.1221+19C>G	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2195160	NM_001481.3(GAS8):c.924+20C>G	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2188650	NM_001481.3(GAS8):c.289-6C>T	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2186234	NM_001481.3(GAS8):c.270G>C (p.Arg90Ser)	GAS8 (R65S +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2182469	NM_001481.3(GAS8):c.1034T>G (p.Leu345Arg)	GAS8 (L153R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2178814	NM_001481.3(GAS8):c.63C>T (p.Leu21=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2177470	NM_001481.3(GAS8):c.1A>T (p.Met1Leu)	GAS8 (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2172945	NM_001481.3(GAS8):c.927C>T (p.Cys309=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2171932	NM_001481.3(GAS8):c.1222-13T>G	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2165518	NM_001481.3(GAS8):c.621G>A (p.Glu207=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2164634	NM_001481.3(GAS8):c.117G>A (p.Arg39=)	GAS8	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2159293	NM_001481.3(GAS8):c.715G>T (p.Asp239Tyr)	GAS8 (D156Y +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2158822	NM_001481.3(GAS8):c.1201C>G (p.Leu401Val)	GAS8 (L209V +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2156650	NM_001481.3(GAS8):c.3+11G>C	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2153657	NM_001481.3(GAS8):c.965A>G (p.Lys322Arg)	GAS8 (K239R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2150734	NM_001481.3(GAS8):c.1199C>T (p.Thr400Met)	GAS8 (T208M +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2148620	NM_001481.3(GAS8):c.523C>T (p.Arg175Trp)	GAS8 (R150W +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2124124	NM_001481.3(GAS8):c.722C>T (p.Thr241Ile)	GAS8 (T49I +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2113044	NM_001481.3(GAS8):c.751C>T (p.Leu251Phe)	GAS8 (L226F +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2107416	NM_001481.3(GAS8):c.1288-13C>T	GAS8	Single nucleotide variant (intron variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2097319	NM_001481.3(GAS8):c.247G>A (p.Glu83Lys)	GAS8 (E83K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2085246	NM_001481.3(GAS8):c.1296C>T (p.Asn432=)	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	GAS8-related condition +1 more	GLikely benign
Select item 2077971	NM_001481.3(GAS8):c.220_221delinsGC (p.Lys74Ala)	GAS8 (K49A +1 more)	Indel (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2075739	NM_001481.3(GAS8):c.809C>T (p.Ala270Val)	GAS8 (A187V +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2070410	NM_001481.3(GAS8):c.137G>A (p.Arg46Gln)	GAS8 (R21Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2064641	NM_001481.3(GAS8):c.714C>T (p.Asn238=)	GAS8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2054305	NM_001481.3(GAS8):c.757-20G>T	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2053721	NM_001481.3(GAS8):c.160C>G (p.Leu54Val)	GAS8 (L29V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	GAS8-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2048849	NM_001481.3(GAS8):c.1410C>T (p.Pro470=)	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
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)	Primary ciliary dyskinesia 33 +1 more	GConflicting classifications of pathogenicity
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	GUncertain significance
Select item 2043424	NM_001481.3(GAS8):c.288+13G>A	GAS8	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2043064	NM_001481.3(GAS8):c.1244G>A (p.Ser415Asn)	GAS8 (S223N +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2042672	NM_001481.3(GAS8):c.1172C>T (p.Ala391Val)	GAS8 (A366V +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2039961	NM_001481.3(GAS8):c.1434G>A (p.Thr478=)	GAS8	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign
Select item 2039955	NM_001481.3(GAS8):c.1336G>A (p.Gly446Arg)	GAS8 (G254R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2039566	NM_001481.3(GAS8):c.17A>G (p.Lys6Arg)	GAS8 (K6R)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2039227	NM_001481.3(GAS8):c.911A>G (p.Lys304Arg)	GAS8 (K112R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 33	GUncertain significance
Select item 2038008	NM_001481.3(GAS8):c.1012-14C>T	GAS8	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 33	GLikely benign

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