1769[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 1227010	NM_001206927.2(DNAH8):c.-34-200_-34-199insT	DNAH8, LOC126859667	Insertion (intron variant)	not provided	GBenign
Select item 1271210	NM_001206927.2(DNAH8):c.-34-199_-34-198insTGT	DNAH8, LOC126859667	Insertion (intron variant)	not provided	GBenign
Select item 1230877	NM_001206927.2(DNAH8):c.-34-199_-34-198insTGTGT	DNAH8, LOC126859667	Insertion (intron variant)	not provided	GBenign
Select item 1240529	NM_001206927.2(DNAH8):c.-34-195G>T	DNAH8, LOC126859667	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297887	NM_001206927.2(DNAH8):c.-34-193G>T	DNAH8, LOC126859667	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241261	NM_001206927.2(DNAH8):c.-34-191T>G	DNAH8, LOC126859667	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231898	NM_001206927.2(DNAH8):c.-34-189T>G	DNAH8, LOC126859667	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3053749	NM_001206927.2(DNAH8):c.-9C>T	DNAH8, LOC126859667	Single nucleotide variant (5 prime UTR variant)	DNAH8-related disorder	GLikely benign
Select item 2499010	NM_001206927.2(DNAH8):c.-3_4del (p.Met1fs)	DNAH8, LOC126859667 (M1fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 847617	NM_001206927.2(DNAH8):c.6G>C (p.Glu2Asp)	DNAH8, LOC126859667 (E2D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525579	NM_001206927.2(DNAH8):c.6G>A (p.Glu2=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 799412	NM_001206927.2(DNAH8):c.9G>A (p.Lys3=)	LOC126859667, DNAH8	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2761645	NM_001206927.2(DNAH8):c.24C>A (p.Gly8=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 525329	NM_001206927.2(DNAH8):c.24C>T (p.Gly8=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2811823	NM_001206927.2(DNAH8):c.33T>G (p.Ser11=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1992248	NM_001206927.2(DNAH8):c.37G>A (p.Gly13Arg)	LOC126859667, DNAH8 (G13R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2402891	NM_001206927.2(DNAH8):c.38G>A (p.Gly13Glu)	DNAH8, LOC126859667 (G13E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1566933	NM_001206927.2(DNAH8):c.42A>C (p.Ala14=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2305660	NM_001206927.2(DNAH8):c.43G>A (p.Glu15Lys)	DNAH8, LOC126859667 (E15K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 238648	NM_001206927.2(DNAH8):c.47C>T (p.Ala16Val)	DNAH8, LOC126859667 (A16V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1449641	NM_001206927.2(DNAH8):c.68C>A (p.Ala23Asp)	DNAH8, LOC126859667 (A23D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2739637	NM_001206927.2(DNAH8):c.72C>T (p.Ala24=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2174947	NM_001206927.2(DNAH8):c.84A>G (p.Ser28=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1089702	NM_001206927.2(DNAH8):c.102G>A (p.Pro34=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 525233	NM_001206927.2(DNAH8):c.106C>T (p.Pro36Ser)	DNAH8, LOC126859667 (P36S)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 46 +1 more	GUncertain significance
Select item 977549	NM_001206927.2(DNAH8):c.112A>T (p.Thr38Ser)	DNAH8, LOC126859667 (T38S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 970555	NM_001206927.2(DNAH8):c.112A>G (p.Thr38Ala)	DNAH8, LOC126859667 (T38A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1617078	NM_001206927.2(DNAH8):c.114A>G (p.Thr38=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1424732	NM_001206927.2(DNAH8):c.119A>G (p.Glu40Gly)	DNAH8, LOC126859667 (E40G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1593357	NM_001206927.2(DNAH8):c.120G>A (p.Glu40=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2068843	NM_001206927.2(DNAH8):c.123C>G (p.Ala41=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2873808	NM_001206927.2(DNAH8):c.126G>A (p.Pro42=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 454552	NM_001206927.2(DNAH8):c.137_160dup (p.Gly46_Asp53dup)	DNAH8, LOC126859667	Duplication (inframe_insertion +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1476918	NM_001206927.2(DNAH8):c.137_160del (p.Gly46_Asp53del)	DNAH8, LOC126859667	Deletion (inframe_deletion +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525258	NM_001206927.2(DNAH8):c.142T>C (p.Ser48Pro)	DNAH8, LOC126859667 (S48P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2166578	NM_001206927.2(DNAH8):c.150C>T (p.Ser50=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2975339	NM_001206927.2(DNAH8):c.155A>G (p.Glu52Gly)	DNAH8, LOC126859667 (E52G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2725859	NM_001206927.2(DNAH8):c.156A>G (p.Glu52=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 574871	NM_001206927.2(DNAH8):c.184C>T (p.Arg62Trp)	DNAH8, LOC126859667 (R62W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 651668	NM_001206927.2(DNAH8):c.209G>A (p.Gly70Glu)	DNAH8, LOC126859667 (G70E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 737656	NM_001206927.2(DNAH8):c.210G>A (p.Gly70=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1449505	NM_001206927.2(DNAH8):c.229C>T (p.His77Tyr)	DNAH8, LOC126859667 (H77Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 652800	NM_001206927.2(DNAH8):c.229C>A (p.His77Asn)	DNAH8, LOC126859667 (H77N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2069819	NM_001206927.2(DNAH8):c.236C>T (p.Ala79Val)	DNAH8, LOC126859667 (A79V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 953583	NM_001206927.2(DNAH8):c.253C>T (p.Arg85Ter)	DNAH8, LOC126859667 (R85*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 748959	NM_001206927.2(DNAH8):c.264T>G (p.Leu88=)	LOC126859667, DNAH8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1577089	NM_001206927.2(DNAH8):c.270G>A (p.Pro90=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 238641	NM_001206927.2(DNAH8):c.270G>C (p.Pro90=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 2739725	NM_001206927.2(DNAH8):c.275C>T (p.Pro92Leu)	DNAH8, LOC126859667 (P92L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1643884	NM_001206927.2(DNAH8):c.276G>T (p.Pro92=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2168298	NM_001206927.2(DNAH8):c.285A>G (p.Ser95=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1902709	NM_001206927.2(DNAH8):c.301C>T (p.Leu101=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1160104	NM_001206927.2(DNAH8):c.309G>A (p.Leu103=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2141100	NM_001206927.2(DNAH8):c.310C>T (p.Pro104Ser)	DNAH8, LOC126859667 (P104S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2249336	NM_001206927.2(DNAH8):c.311C>G (p.Pro104Arg)	DNAH8, LOC126859667 (P104R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2872576	NM_001206927.2(DNAH8):c.318C>T (p.Ser106=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2757516	NM_001206927.2(DNAH8):c.321dup (p.Arg108fs)	DNAH8, LOC126859667 (R108fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1368088	NM_001206927.2(DNAH8):c.319C>G (p.Arg107Gly)	DNAH8, LOC126859667 (R107G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1525642	NM_001206927.2(DNAH8):c.320G>A (p.Arg107Gln)	DNAH8, LOC126859667 (R107Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2129703	NM_001206927.2(DNAH8):c.326C>T (p.Ser109Phe)	DNAH8, LOC126859667 (S109F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3001166	NM_001206927.2(DNAH8):c.339C>G (p.Arg113=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2710358	NM_001206927.2(DNAH8):c.339C>T (p.Arg113=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 851022	NM_001206927.2(DNAH8):c.340C>T (p.Arg114Trp)	DNAH8, LOC126859667 (R114W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2635111	NM_001206927.2(DNAH8):c.360dup (p.Asn121fs)	DNAH8, LOC126859667 (N121fs)	Duplication (frameshift variant +1 more)	DNAH8-related disorder	GLikely pathogenic
Select item 1427825	NM_001206927.2(DNAH8):c.358C>T (p.Pro120Ser)	DNAH8, LOC126859667 (P120S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2725875	NM_001206927.2(DNAH8):c.366A>G (p.Leu122=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 699028	NM_001206927.2(DNAH8):c.375A>G (p.Thr125=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 984743	NM_001206927.2(DNAH8):c.380_381del (p.Lys127fs)	DNAH8, LOC126859667 (K127fs)	Deletion (frameshift variant +1 more)	Spermatogenic failure 46	GPathogenic
Select item 407278	NM_001206927.2(DNAH8):c.382G>A (p.Glu128Lys)	DNAH8, LOC126859667 (E128K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 407275	NM_001206927.2(DNAH8):c.384G>C (p.Glu128Asp)	DNAH8, LOC126859667 (E128D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2097264	NM_001206927.2(DNAH8):c.390+5G>C	DNAH8, LOC126859667	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525463	NM_001206927.2(DNAH8):c.423A>G (p.Arg141=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 841186	NM_001206927.2(DNAH8):c.436C>T (p.Pro146Ser)	DNAH8, LOC126859667 (P146S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 835057	NM_001206927.2(DNAH8):c.451A>G (p.Ile151Val)	DNAH8, LOC126859667 (I151V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2063865	NM_001206927.2(DNAH8):c.453A>G (p.Ile151Met)	DNAH8, LOC126859667 (I151M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 657445	NM_001206927.2(DNAH8):c.497T>A (p.Val166Asp)	DNAH8, LOC126859667 (V166D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1962545	NM_001206927.2(DNAH8):c.517T>C (p.Cys173Arg)	DNAH8, LOC126859667 (C173R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2807792	NM_001206927.2(DNAH8):c.525+12T>G	DNAH8, LOC126859667	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1263037	NM_001206927.2(DNAH8):c.525+82CAA[4]	DNAH8, LOC126859667	Microsatellite (intron variant)	not provided	GBenign
Select item 1265508	NM_001206927.2(DNAH8):c.525+105C>T	DNAH8, LOC126859667	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222716	NM_001206927.2(DNAH8):c.525+113C>T	DNAH8, LOC126859667	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276275	NM_001206927.2(DNAH8):c.525+144C>A	DNAH8, LOC126859667	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246260	NM_001206927.2(DNAH8):c.526-292A>T	DNAH8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 764316	NM_001206927.2(DNAH8):c.531A>G (p.Glu177=)	DNAH8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2160631	NM_001206927.2(DNAH8):c.549dup (p.Ala184fs)	DNAH8 (A184fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2180283	NM_001206927.2(DNAH8):c.551C>T (p.Ala184Val)	DNAH8 (A184V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 698824	NM_001206927.2(DNAH8):c.552G>A (p.Ala184=)	DNAH8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 238653	NM_001206927.2(DNAH8):c.558T>C (p.Asp186=)	DNAH8	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 525355	NM_001206927.2(DNAH8):c.582G>T (p.Leu194Phe)	DNAH8 (L194F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1228932	NM_001206927.2(DNAH8):c.610+77A>G	DNAH8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258341	NM_001206927.2(DNAH8):c.610+82T>G	DNAH8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281610	NM_001206927.2(DNAH8):c.610+285G>A	DNAH8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274516	NM_001206927.2(DNAH8):c.611-235G>T	DNAH8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256842	NM_001206927.2(DNAH8):c.611-176dup	DNAH8	Duplication (intron variant)	not provided	GBenign
Select item 1277811	NM_001206927.2(DNAH8):c.611-176del	DNAH8	Deletion (intron variant)	not provided	GBenign
Select item 1264104	NM_001206927.2(DNAH8):c.611-139dup	DNAH8	Duplication (intron variant)	not provided	GBenign
Select item 1252814	NM_001206927.2(DNAH8):c.611-141_611-139dup	DNAH8	Duplication (intron variant)	not provided	GBenign
Select item 1181977	NM_001206927.2(DNAH8):c.611-140_611-139dup	DNAH8	Duplication (intron variant)	not provided	GBenign

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