3689[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 901

<< First< Prev

Page of 10

	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 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 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 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 154064	GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1	ADARB1, BNAT1 +69 more	Copy number loss	See cases	GUncertain significance
Select item 150020	GRCh38/hg38 21q22.3(chr21:44576109-45204790)x3	LOC125418085, LOC126653399 +50 more	Copy number gain	See cases	GUncertain significance
Select item 340126	NM_000211.5(ITGB2):c.*403C>T	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 895891	NM_000211.5(ITGB2):c.*370G>T	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1	GBenign
Select item 340127	NM_000211.5(ITGB2):c.*349del	ITGB2	Deletion (3 prime UTR variant)	Leukocyte adhesion deficiency	GLikely benign
Select item 896171	NM_000211.5(ITGB2):c.*289A>G	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 340128	NM_000211.5(ITGB2):c.*219AGG[1]	ITGB2	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 340129	NM_000211.5(ITGB2):c.*171G>C	ITGB2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 896172	NM_000211.5(ITGB2):c.*170C>T	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 340130	NM_000211.5(ITGB2):c.*168G>T	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 340131	NM_000211.5(ITGB2):c.*167C>T	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 896173	NM_000211.5(ITGB2):c.*148C>T	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 340133	NM_000211.5(ITGB2):c.*145C>A	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1 +1 more	GBenign
Select item 340132	NM_000211.5(ITGB2):c.*145C>T	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 340134	NM_000211.5(ITGB2):c.*122G>A	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1 +1 more	GBenign
Select item 340135	NM_000211.5(ITGB2):c.*121C>T	ITGB2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 340136	NM_000211.5(ITGB2):c.56_59dup	ITGB2	Duplication (3 prime UTR variant)	Leukocyte adhesion deficiency	GUncertain significance
Select item 897774	NM_000211.5(ITGB2):c.*38T>C	ITGB2	Single nucleotide variant (3 prime UTR variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 340137	NM_000211.5(ITGB2):c.2310G>A (p.Ter770=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 1934426	NM_000211.5(ITGB2):c.2302G>C (p.Glu768Gln)	ITGB2 (E768Q +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 936550	NM_000211.5(ITGB2):c.2295G>C (p.Lys765Asn)	ITGB2 (K765N +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1 +1 more	GUncertain significance
Select item 796319	NM_000211.5(ITGB2):c.2292C>T (p.Pro764=)	ITGB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161910	NM_000211.5(ITGB2):c.2285T>G (p.Met762Arg)	ITGB2 (M762R +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 719017	NM_000211.5(ITGB2):c.2283C>T (p.Val761=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GConflicting classifications of pathogenicity
Select item 1149114	NM_000211.5(ITGB2):c.2280G>A (p.Thr760=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2413863	NM_000211.5(ITGB2):c.2277G>A (p.Thr759=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 761034	NM_000211.5(ITGB2):c.2277G>C (p.Thr759=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 1521894	NM_000211.5(ITGB2):c.2269G>A (p.Ala757Thr)	ITGB2 (A688T +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 1126562	NM_000211.5(ITGB2):c.2268C>T (p.Ser756=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 1984475	NM_000211.5(ITGB2):c.2248-15T>C	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 3014377	NM_000211.5(ITGB2):c.2248-20_2248-19del	ITGB2	Deletion (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 1925076	NM_000211.5(ITGB2):c.2248-20C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 100752	NM_000211.5(ITGB2):c.2248-127G>C	ITGB2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 100751	NM_000211.5(ITGB2):c.2247+57C>T	ITGB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1268512	NM_000211.5(ITGB2):c.2247+44G>A	ITGB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2759423	NM_000211.5(ITGB2):c.2247+20G>C	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 1569480	NM_000211.5(ITGB2):c.2247+19G>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 3019536	NM_000211.5(ITGB2):c.2247+13C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2837876	NM_000211.5(ITGB2):c.2247+11G>C	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 1562713	NM_000211.5(ITGB2):c.2247+11G>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 1161774	NM_000211.5(ITGB2):c.2247+10C>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 897775	NM_000211.5(ITGB2):c.2247+10C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GConflicting classifications of pathogenicity
Select item 1608176	NM_000211.5(ITGB2):c.2247+8del	ITGB2	Deletion (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 1608177	NM_000211.5(ITGB2):c.2247+7G>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 1353686	NM_000211.5(ITGB2):c.2247T>C (p.Asn749=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 3021185	NM_000211.5(ITGB2):c.2211C>T (p.Arg737=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 340138	NM_000211.5(ITGB2):c.2210G>A (p.Arg737His)	ITGB2 (R737H +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 1324598	NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter)	ITGB2 (E665* +1 more)	Single nucleotide variant (nonsense)	Leukocyte adhesion deficiency 1	GPathogenic/Likely pathogenic
Select item 2187448	NM_000211.5(ITGB2):c.2198G>A (p.Arg733Gln)	ITGB2 (R733Q +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2194760	NM_000211.5(ITGB2):c.2190C>T (p.Ser730=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 733274	NM_000211.5(ITGB2):c.2189G>A (p.Ser730Asn)	ITGB2 (S730N +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 1440950	NM_000211.5(ITGB2):c.2172G>A (p.Lys724=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 1553572	NM_000211.5(ITGB2):c.2154C>G (p.Leu718=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 955031	NM_000211.5(ITGB2):c.2149A>G (p.Ile717Val)	ITGB2 (I648V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 68214	NM_000211.5(ITGB2):c.2147G>C (p.Gly716Ala)	ITGB2 (G716A +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 420118	NM_000211.5(ITGB2):c.2146G>C (p.Gly716Arg)	ITGB2 (G716R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 340139	NM_000211.5(ITGB2):c.2145C>T (p.Ile715=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1 +1 more	GConflicting classifications of pathogenicity
Select item 754712	NM_000211.5(ITGB2):c.2142G>C (p.Leu714=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 1428769	NM_000211.5(ITGB2):c.2141T>C (p.Leu714Pro)	ITGB2 (L645P +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance

<< First< Prev

Page of 10