89765[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 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 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 155316	GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3	ABCG1, C2CD2 +114 more	Copy number gain	See cases	GLikely benign
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 1179831	NM_080860.4(RSPH1):c.*287A>G	RSPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1203261	NM_080860.4(RSPH1):c.*229G>A	RSPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1678821	NM_080860.4(RSPH1):c.*189C>T	RSPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1271567	NM_080860.4(RSPH1):c.*182G>A	RSPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1274561	NM_080860.4(RSPH1):c.*153C>T	RSPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1283939	NM_080860.4(RSPH1):c.*53C>T	RSPH1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 583914	NC_000021.8:g.(?_43892908)_(44592410_?)dup	LOC130066769, LOC130066770 +45 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 454953	NM_080860.4(RSPH1):c.919C>T (p.Leu307Phe)	RSPH1 (L307F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1028540	NM_080860.4(RSPH1):c.916G>C (p.Asp306His)	RSPH1 (D306H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2093936	NM_080860.4(RSPH1):c.912G>A (p.Gln304=)	RSPH1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 408126	NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly)	RSPH1 (R303G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2283198	NM_080860.4(RSPH1):c.902A>C (p.Glu301Ala)	RSPH1 (E263A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2695223	NM_080860.4(RSPH1):c.878-4T>G	RSPH1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1263479	NM_080860.4(RSPH1):c.878-204C>T	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250884	NM_080860.4(RSPH1):c.877+311A>G	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250641	NM_080860.4(RSPH1):c.877+310C>T	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282349	NM_080860.4(RSPH1):c.877+284A>C	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203615	NM_080860.4(RSPH1):c.877+149G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271573	NM_080860.4(RSPH1):c.877+112G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2715773	NM_080860.4(RSPH1):c.877+14G>A	RSPH1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1615611	NM_080860.4(RSPH1):c.877+13C>T	RSPH1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 698289	NM_080860.4(RSPH1):c.877+7T>A	RSPH1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 24 +1 more	GBenign/Likely benign
Select item 241792	NM_080860.4(RSPH1):c.870G>A (p.Met290Ile)	RSPH1 (M290I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3343026	NM_080860.4(RSPH1):c.864T>G (p.Tyr288Ter)	RSPH1 (Y250* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1384855	NM_080860.4(RSPH1):c.860G>A (p.Arg287His)	RSPH1 (R287H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 408128	NM_080860.4(RSPH1):c.859C>T (p.Arg287Cys)	RSPH1 (R287C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1052504	NM_080860.4(RSPH1):c.850GAG[1] (p.Glu285del)	RSPH1 (E247del +1 more)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia	GUncertain significance
Select item 852534	NM_080860.4(RSPH1):c.847C>T (p.Gln283Ter)	RSPH1 (Q245* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 24 +1 more	GConflicting classifications of pathogenicity
Select item 1477462	NM_080860.4(RSPH1):c.835C>T (p.Arg279Trp)	RSPH1 (R241W +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1051900	NM_080860.4(RSPH1):c.824G>A (p.Arg275Gln)	RSPH1 (R237Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525507	NM_080860.4(RSPH1):c.819C>T (p.Val273=)	RSPH1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 664835	NM_080860.4(RSPH1):c.817G>A (p.Val273Ile)	RSPH1 (V235I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1953825	NM_080860.4(RSPH1):c.816C>T (p.Asp272=)	RSPH1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2717886	NM_080860.4(RSPH1):c.812C>A (p.Ala271Glu)	RSPH1 (A233E +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1587734	NM_080860.4(RSPH1):c.798T>C (p.Pro266=)	RSPH1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 580924	NM_080860.4(RSPH1):c.797C>T (p.Pro266Leu)	RSPH1 (P266L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1648565	NM_080860.4(RSPH1):c.795G>A (p.Arg265=)	RSPH1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2996041	NM_080860.4(RSPH1):c.790_791del (p.Met264fs)	RSPH1 (M264fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 934912	NM_080860.4(RSPH1):c.788A>G (p.Asp263Gly)	RSPH1 (D263G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454952	NM_080860.4(RSPH1):c.785T>C (p.Met262Thr)	RSPH1 (M262T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2318900	NM_080860.4(RSPH1):c.781G>A (p.Glu261Lys)	RSPH1 (E223K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1380381	NM_080860.4(RSPH1):c.775G>A (p.Glu259Lys)	RSPH1 (E221K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525566	NM_080860.4(RSPH1):c.774C>T (p.Phe258=)	RSPH1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1911497	NM_080860.4(RSPH1):c.751G>T (p.Ala251Ser)	RSPH1 (A213S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 653057	NM_080860.4(RSPH1):c.748G>A (p.Glu250Lys)	RSPH1 (E250K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2220290	NM_080860.4(RSPH1):c.745G>C (p.Glu249Gln)	RSPH1 (E211Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 227052	NM_080860.4(RSPH1):c.742G>A (p.Gly248Arg)	RSPH1 (G248R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 703737	NM_080860.4(RSPH1):c.741C>T (p.Pro247=)	RSPH1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 241791	NM_080860.4(RSPH1):c.733G>A (p.Gly245Arg)	RSPH1 (G245R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GBenign
Select item 525496	NM_080860.4(RSPH1):c.732A>G (p.Ala244=)	RSPH1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2275925	NM_080860.4(RSPH1):c.731C>A (p.Ala244Glu)	RSPH1 (A206E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 241790	NM_080860.4(RSPH1):c.730G>A (p.Ala244Thr)	RSPH1 (A244T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2107856	NM_080860.4(RSPH1):c.728-20T>G	RSPH1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1209488	NM_080860.4(RSPH1):c.728-79del	RSPH1	Deletion (intron variant)	not provided	GLikely benign
Select item 1183175	NM_080860.4(RSPH1):c.728-129G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282368	NM_080860.4(RSPH1):c.728-244T>G	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249957	NM_080860.4(RSPH1):c.728-307C>G	RSPH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234489	NM_080860.4(RSPH1):c.727+285_727+317del	RSPH1	Microsatellite (intron variant)	not provided	GBenign
Select item 1210952	NM_080860.4(RSPH1):c.727+291G>A	RSPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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