12756[HGNC] - 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 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 583914	NC_000021.8:g.(?_43892908)_(44592410_?)dup	LOC130066769, LOC130066770 +45 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 3332823	NM_018669.6(WDR4):c.1226C>T (p.Thr409Met)	WDR4 (T409M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2075990	NM_018669.6(WDR4):c.1223C>T (p.Ala408Val)	WDR4 (A408V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1357469	NM_018669.6(WDR4):c.1219G>C (p.Glu407Gln)	WDR4 (E261Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054809	NM_018669.6(WDR4):c.1218G>A (p.Gly406=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1975482	NM_018669.6(WDR4):c.1215G>A (p.Pro405=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2490036	NM_018669.6(WDR4):c.1213C>A (p.Pro405Thr)	WDR4 (P405T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1919496	NM_018669.6(WDR4):c.1202A>G (p.Lys401Arg)	WDR4 (K255R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1482224	NM_018669.6(WDR4):c.1195C>A (p.His399Asn)	WDR4 (H398N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2402184	NM_018669.6(WDR4):c.1191C>A (p.Asp397Glu)	WDR4 (D251E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2831777	NM_018669.6(WDR4):c.1190A>G (p.Asp397Gly)	WDR4 (D397G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2202110	NM_018669.6(WDR4):c.1189G>A (p.Asp397Asn)	WDR4 (D251N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1972137	NM_018669.6(WDR4):c.1189G>T (p.Asp397Tyr)	WDR4 (D396Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2911701	NM_018669.6(WDR4):c.1188C>G (p.Pro396=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413653	NM_018669.6(WDR4):c.1188C>T (p.Pro396=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2079639	NM_018669.6(WDR4):c.1183G>A (p.Gly395Arg)	WDR4 (G394R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2856432	NM_018669.6(WDR4):c.1179G>C (p.Pro393=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1441087	NM_018669.6(WDR4):c.1178C>T (p.Pro393Leu)	WDR4 (P247L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1234975	NM_018669.6(WDR4):c.1169G>A (p.Arg390Gln)	WDR4 (R244Q +2 more)	Single nucleotide variant (missense variant +1 more)	Galloway-Mowat syndrome 6 +2 more	GBenign
Select item 2144900	NM_018669.6(WDR4):c.1168C>T (p.Arg390Trp)	WDR4 (R244W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2176666	NM_018669.6(WDR4):c.1165C>T (p.Arg389Cys)	WDR4 (R388C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2367585	NM_018669.6(WDR4):c.1163G>A (p.Arg388Gln)	WDR4 (R242Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2130364	NM_018669.6(WDR4):c.1159C>T (p.Gln387Ter)	WDR4 (Q386* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2070451	NM_018669.6(WDR4):c.1156A>C (p.Lys386Gln)	WDR4 (K385Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2410573	NM_018669.6(WDR4):c.1150G>A (p.Glu384Lys)	WDR4 (E383K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2059339	NM_018669.6(WDR4):c.1149A>G (p.Leu383=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2410572	NM_018669.6(WDR4):c.1148T>C (p.Leu383Pro)	WDR4 (L237P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2707214	NM_018669.6(WDR4):c.1137G>A (p.Leu379=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3332828	NM_018669.6(WDR4):c.1134A>C (p.Arg378Ser)	WDR4 (R378S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1510448	NM_018669.6(WDR4):c.1131G>C (p.Glu377Asp)	WDR4 (E231D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3190029	NM_018669.6(WDR4):c.1129G>A (p.Glu377Lys)	WDR4 (E376K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1566816	NM_018669.6(WDR4):c.1122G>A (p.Lys374=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2607983	NM_018669.6(WDR4):c.1120A>C (p.Lys374Gln)	WDR4 (K373Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2119481	NM_018669.6(WDR4):c.1119G>C (p.Lys373Asn)	WDR4 (K372N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2331446	NM_018669.6(WDR4):c.1114C>G (p.Leu372Val)	WDR4 (L371V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3044986	NM_018669.6(WDR4):c.1107C>A (p.Thr369=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	WDR4-related disorder	GLikely benign
Select item 2138390	NM_018669.6(WDR4):c.1106C>T (p.Thr369Ile)	WDR4 (T223I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1977210	NM_018669.6(WDR4):c.1101C>T (p.Asn367=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3047870	NM_018669.6(WDR4):c.1095C>T (p.Phe365=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	WDR4-related disorder	GLikely benign
Select item 2183383	NM_018669.6(WDR4):c.1091C>A (p.Thr364Lys)	WDR4 (T364K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1288640	NM_018669.6(WDR4):c.1089C>T (p.Ala363=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3040371	NM_018669.6(WDR4):c.1071C>A (p.Phe357Leu)	WDR4 (F211L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652715	NM_018669.6(WDR4):c.1071C>T (p.Phe357=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1577782	NM_018669.6(WDR4):c.1056C>T (p.Gly352=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3190028	NM_018669.6(WDR4):c.1054G>C (p.Gly352Arg)	WDR4 (G351R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2005789	NM_018669.6(WDR4):c.1054G>T (p.Gly352Cys)	WDR4 (G351C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1927972	NM_018669.6(WDR4):c.1053C>T (p.Ala351=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1977909	NM_018669.6(WDR4):c.1047C>T (p.Gly349=)	WDR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2044965	NM_018669.6(WDR4):c.1046-1G>A	WDR4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2255312	NM_018669.6(WDR4):c.1046-3C>T	WDR4	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1979313	NM_018669.6(WDR4):c.1046-4A>G	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762884	NM_018669.6(WDR4):c.1046-16T>C	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2051888	NM_018669.6(WDR4):c.1046-18C>T	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257157	NM_018669.6(WDR4):c.1046-50G>C	WDR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276144	NM_018669.6(WDR4):c.1046-149C>T	WDR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229045	NM_018669.6(WDR4):c.1045+38C>T	WDR4	Single nucleotide variant (intron variant)	Galloway-Mowat syndrome 6 +2 more	GBenign
Select item 2864735	NM_018669.6(WDR4):c.1045+11G>A	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2047233	NM_018669.6(WDR4):c.1045+10C>T	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2177762	NM_018669.6(WDR4):c.1045+8C>T	WDR4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 726110	NM_018669.6(WDR4):c.1036A>G (p.Met346Val)	WDR4 (M345V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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