56683[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 59002	GRCh38/hg38 21q22.11(chr21:32597585-32718929)x3	CFAP298, CFAP298-TCP10L +4 more	Copy number gain	See cases	GUncertain significance
Select item 1270433	NM_021254.4(CFAP298):c.*65A>T	CFAP298, CFAP298-TCP10L	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 584218	NC_000021.8:g.(?_33974153)_(34074377_?)dup	CFAP298, CFAP298-TCP10L +4 more	Duplication	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 568785	NM_021254.4(CFAP298):c.866C>T (p.Pro289Leu)	CFAP298, CFAP298-TCP10L (P289L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 844753	NM_021254.4(CFAP298):c.860G>A (p.Trp287Ter)	CFAP298, CFAP298-TCP10L (W188* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 947819	NM_021254.4(CFAP298):c.854_855del (p.Ile285fs)	CFAP298, CFAP298-TCP10L (I186fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2838841	NM_021254.4(CFAP298):c.852C>T (p.Asp284=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1005343	NM_021254.4(CFAP298):c.835T>C (p.Phe279Leu)	CFAP298, CFAP298-TCP10L (F180L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1025340	NM_021254.4(CFAP298):c.829del (p.Arg277fs)	CFAP298, CFAP298-TCP10L (R178fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1531795	NM_021254.4(CFAP298):c.822T>C (p.Ala274=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1370572	NM_021254.4(CFAP298):c.809C>T (p.Ala270Val)	CFAP298, CFAP298-TCP10L (A171V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 861049	NM_021254.4(CFAP298):c.803C>T (p.Pro268Leu)	CFAP298, CFAP298-TCP10L (P236L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 88690	NM_021254.4(CFAP298):c.792_795del (p.Ala263_Tyr264insTer)	CFAP298, CFAP298-TCP10L	Deletion (nonsense +2 more)	Primary ciliary dyskinesia 26	GPathogenic
Select item 405330	NM_021254.4(CFAP298):c.781G>A (p.Asp261Asn)	CFAP298, CFAP298-TCP10L (D261N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 525351	NM_021254.4(CFAP298):c.778G>T (p.Asp260Tyr)	CFAP298, CFAP298-TCP10L (D260Y +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2855300	NM_021254.4(CFAP298):c.763-11C>A	CFAP298, CFAP298-TCP10L	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2919477	NM_021254.4(CFAP298):c.763-14A>G	CFAP298, CFAP298-TCP10L	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1248500	NM_021254.4(CFAP298):c.763-39C>T	CFAP298, CFAP298-TCP10L	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3039765	NM_021254.4(CFAP298):c.762+36C>G	CFAP298, CFAP298-TCP10L	Single nucleotide variant (3 prime UTR variant +2 more)	CFAP298-related disorder	GBenign
Select item 1591630	NM_021254.4(CFAP298):c.762+14G>A	CFAP298, CFAP298-TCP10L (R259K)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 413308	NM_021254.4(CFAP298):c.762+6A>G	CFAP298, CFAP298-TCP10L	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 209002	NM_021254.4(CFAP298):c.735C>G (p.Tyr245Ter)	CFAP298, CFAP298-TCP10L (Y245* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1523446	NM_021254.4(CFAP298):c.734A>G (p.Tyr245Cys)	CFAP298, CFAP298-TCP10L (Y245C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2883339	NM_021254.4(CFAP298):c.732G>A (p.Leu244=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 869379	NM_021254.4(CFAP298):c.721C>T (p.Gln241Ter)	CFAP298, CFAP298-TCP10L (Q142* +1 more)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia 26	GPathogenic
Select item 960519	NM_021254.4(CFAP298):c.688C>T (p.Arg230Ter)	CFAP298, CFAP298-TCP10L (R131* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 848450	NM_021254.4(CFAP298):c.674A>G (p.Gln225Arg)	CFAP298, CFAP298-TCP10L (Q126R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2071804	NM_021254.4(CFAP298):c.673C>T (p.Gln225Ter)	CFAP298, CFAP298-TCP10L (Q126* +1 more)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia 26 +1 more	GPathogenic
Select item 2030992	NM_021254.4(CFAP298):c.667-4G>T	CFAP298, CFAP298-TCP10L	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1229290	NM_021254.4(CFAP298):c.666+192A>G	CFAP298, CFAP298-TCP10L	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3044283	NM_021254.4(CFAP298):c.666+77G>A	CFAP298, CFAP298-TCP10L	Single nucleotide variant (3 prime UTR variant +1 more)	CFAP298-related disorder	GLikely benign
Select item 2743262	NM_021254.4(CFAP298):c.666+13T>C	CFAP298, CFAP298-TCP10L (C227R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 525440	NM_021254.4(CFAP298):c.666+6T>C	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2071614	NM_021254.4(CFAP298):c.665A>C (p.Gln222Pro)	CFAP298, CFAP298-TCP10L (Q222P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1399758	NM_021254.4(CFAP298):c.652G>A (p.Ala218Thr)	CFAP298, CFAP298-TCP10L (A218T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 454928	NM_021254.4(CFAP298):c.651C>T (p.Ile217=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1490994	NM_021254.4(CFAP298):c.631A>G (p.Asn211Asp)	CFAP298, CFAP298-TCP10L (N112D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 454927	NM_021254.4(CFAP298):c.630G>A (p.Lys210=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 454926	NM_021254.4(CFAP298):c.624G>C (p.Val208=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 241378	NM_021254.4(CFAP298):c.622G>A (p.Val208Met)	CFAP298, CFAP298-TCP10L (V208M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 3045592	NM_021254.4(CFAP298):c.621C>T (p.Tyr207=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	CFAP298-related disorder	GLikely benign
Select item 2420540	NM_021254.4(CFAP298):c.602C>T (p.Thr201Met)	CFAP298, CFAP298-TCP10L (T102M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1410302	NM_021254.4(CFAP298):c.596GAA[1] (p.Arg200del)	CFAP298, CFAP298-TCP10L (R101del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 746394	NM_021254.4(CFAP298):c.598A>C (p.Arg200=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2169129	NM_021254.4(CFAP298):c.592C>T (p.Leu198=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 525239	NM_021254.4(CFAP298):c.557_566dup (p.Gln190fs)	CFAP298, CFAP298-TCP10L (Q91fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 697710	NM_021254.4(CFAP298):c.552T>A (p.Ile184=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 861073	NM_021254.4(CFAP298):c.547G>C (p.Val183Leu)	CFAP298, CFAP298-TCP10L (V183L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1537330	NM_021254.4(CFAP298):c.546C>T (p.Asn182=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 740557	NM_021254.4(CFAP298):c.537A>G (p.Ala179=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020659	NM_021254.4(CFAP298):c.535-12G>A	CFAP298, CFAP298-TCP10L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2423620	NM_021254.4(CFAP298):c.535-13del	CFAP298, CFAP298-TCP10L	Deletion (intron variant)	not provided	GUncertain significance
Select item 1628102	NM_021254.4(CFAP298):c.535-14dup	CFAP298, CFAP298-TCP10L	Duplication (intron variant)	not provided	GLikely benign
Select item 2804172	NM_021254.4(CFAP298):c.535-17C>G	CFAP298, CFAP298-TCP10L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179432	NM_021254.4(CFAP298):c.535-41G>T	CFAP298-TCP10L, CFAP298	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273994	NM_021254.4(CFAP298):c.535-94A>C	CFAP298, CFAP298-TCP10L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316854	NM_021254.4(CFAP298):c.535-129C>G	CFAP298, CFAP298-TCP10L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318030	NM_021254.4(CFAP298):c.535-327C>T	CFAP298, CFAP298-TCP10L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1054027	NM_021254.4(CFAP298):c.534+4C>T	CFAP298, CFAP298-TCP10L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1983026	NM_021254.4(CFAP298):c.534+3A>G	CFAP298, CFAP298-TCP10L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2845170	NM_021254.4(CFAP298):c.534+1G>A	CFAP298, CFAP298-TCP10L	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3020864	NM_021254.4(CFAP298):c.525G>A (p.Ser175=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1156829	NM_021254.4(CFAP298):c.517G>T (p.Asp173Tyr)	CFAP298, CFAP298-TCP10L (D173Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1651029	NM_021254.4(CFAP298):c.504T>C (p.Phe168=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 454925	NM_021254.4(CFAP298):c.480G>A (p.Pro160=)	CFAP298, CFAP298-TCP10L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 957420	NM_021254.4(CFAP298):c.479C>T (p.Pro160Leu)	CFAP298, CFAP298-TCP10L (P160L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2008456	NM_021254.4(CFAP298):c.457G>T (p.Val153Phe)	CFAP298, CFAP298-TCP10L (V153F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 454924	NM_021254.4(CFAP298):c.457G>A (p.Val153Ile)	CFAP298, CFAP298-TCP10L (V153I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967061	NM_021254.4(CFAP298):c.452T>A (p.Met151Lys)	CFAP298, CFAP298-TCP10L (M52K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 454923	NM_021254.4(CFAP298):c.445G>A (p.Ala149Thr)	CFAP298, CFAP298-TCP10L (A149T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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