ClinVar for Gene (Select 58494) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 118

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287156	NM_021219.4(JAM2):c.824A>T (p.Lys275Met)	JAM2 (K239M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3287155	NM_021219.4(JAM2):c.572C>T (p.Thr191Ile)	JAM2 (T155I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3112199	NM_021219.4(JAM2):c.769G>A (p.Gly257Ser)	JAM2 (G257S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112198	NM_021219.4(JAM2):c.731T>C (p.Val244Ala)	JAM2 (V208A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112197	NM_021219.4(JAM2):c.650G>A (p.Arg217His)	JAM2 (R181H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112196	NM_021219.4(JAM2):c.521G>A (p.Arg174His)	JAM2 (R174H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112195	NM_021219.4(JAM2):c.323G>T (p.Arg108Leu)	JAM2 (R72L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112194	NM_021219.4(JAM2):c.263A>C (p.Glu88Ala)	JAM2 (E52A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 2685658	GRCh37/hg19 21q21.3(chr21:27064461-27122356)x1	ATP5PF, GABPA +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684913	GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3	ADAMTS1, ADAMTS5 +14 more	Copy number gain	not provided	GPathogenic
Select item 2684912	GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3	N6AMT1, NCAM2 +52 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652573	NM_021219.4(JAM2):c.606T>C (p.Asn202=)	JAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2515861	NM_021219.4(JAM2):c.690G>C (p.Met230Ile)	JAM2 (M194I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515442	NM_021219.4(JAM2):c.757G>A (p.Val253Ile)	JAM2 (V217I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490950	NM_021219.4(JAM2):c.823A>G (p.Lys275Glu)	JAM2 (K239E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473799	NM_021219.4(JAM2):c.65G>A (p.Gly22Asp)	JAM2 (G22D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401354	NM_021219.4(JAM2):c.119C>T (p.Ala40Val)	JAM2 (A40V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359971	NM_021219.4(JAM2):c.730G>A (p.Val244Ile)	JAM2 (V244I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319590	NM_021219.4(JAM2):c.652A>G (p.Asn218Asp)	JAM2 (N182D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284914	NM_021219.4(JAM2):c.424C>A (p.Pro142Thr)	JAM2 (P142T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279901	NM_021219.4(JAM2):c.703C>T (p.Leu235Phe)	JAM2 (L199F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2252485	NM_021219.4(JAM2):c.518T>C (p.Ile173Thr)	JAM2 (I173T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231107	NM_021219.4(JAM2):c.475G>C (p.Glu159Gln)	JAM2 (E123Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1708465	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29046428)x3	ADAMTS1, MIR125B2 +23 more	Copy number gain	See cases	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526703	GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583)	MRPL39, NCAM2 +23 more	Copy number gain	not specified	GPathogenic
Select item 1526702	GRCh37/hg19 21q11.2-21.3(chr21:15006457-27430623)	APP, ATP5PF +20 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 1294897	NM_021219.4(JAM2):c.*60T>C	JAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1289948	NM_021219.4(JAM2):c.865-36C>A	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278533	NM_021219.4(JAM2):c.68-96C>A	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276642	NM_021219.4(JAM2):c.21C>A (p.His7Gln)	JAM2 (H7Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1273985	NC_000021.9:g.25639146T>A	JAM2	Single nucleotide variant	not provided	GBenign
Select item 1273504	NM_021219.4(JAM2):c.805+235G>A	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273072	NM_021219.4(JAM2):c.805+30T>A	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270583	NM_021219.4(JAM2):c.697+127C>T	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269779	NM_021219.4(JAM2):c.865-102C>T	JAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1259131	NM_021219.4(JAM2):c.123A>G (p.Val41=)	JAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1258951	NM_021219.4(JAM2):c.-46C>A	JAM2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1258620	NM_021219.4(JAM2):c.856A>C (p.Ser286Arg)	JAM2 (S250R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1258573	NM_021219.4(JAM2):c.865-11del	JAM2	Deletion (intron variant)	not provided	GBenign
Select item 1252935	NM_021219.4(JAM2):c.*181C>T	JAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1242608	NM_021219.4(JAM2):c.806-21T>G	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238278	NM_021219.4(JAM2):c.698-21G>A	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231060	NM_021219.4(JAM2):c.242-208T>C	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230202	NM_021219.4(JAM2):c.821+181A>G	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227361	NM_021219.4(JAM2):c.242-149A>G	JAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226309	NM_021219.4(JAM2):c.805+90TTTG[3]	JAM2	Microsatellite (intron variant)	not provided	GBenign
Select item 1222075	NM_021219.4(JAM2):c.806-224_806-223insG	JAM2	Insertion (intron variant)	not provided	GBenign
Select item 1184625	Single allele	ADAMTS1, ADAMTS5 +7 more	Duplication	Alzheimer disease	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 829545	NM_021219.4(JAM2):c.177_180del (p.Ser59_Arg60insTer)	JAM2	Deletion (frameshift variant +2 more)	Basal ganglia calcification, idiopathic, 8, autosomal recessive	GPathogenic
Select item 829543	NM_021219.4(JAM2):c.395-1dup	JAM2	Duplication (splice acceptor variant)	Basal ganglia calcification, idiopathic, 8, autosomal recessive	GPathogenic
Select item 829541	NM_021219.4(JAM2):c.685C>T (p.Arg229Ter)	JAM2 (R229* +1 more)	Single nucleotide variant (nonsense +1 more)	JAM2-related disorder +1 more	GPathogenic
Select item 829539	NM_021219.4(JAM2):c.323G>A (p.Arg108His)	JAM2 (R108H +1 more)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 8, autosomal recessive	GPathogenic
Select item 829537	NM_021219.4:c.(67+1_68-1)_(394+1_395-1)del	JAM2	Deletion	Basal ganglia calcification, idiopathic, 8, autosomal recessive	GPathogenic
Select item 829535	NM_021219.4(JAM2):c.504G>C (p.Trp168Cys)	JAM2 (W168C +1 more)	Single nucleotide variant (missense variant +1 more)	Basal ganglia calcification, idiopathic, 8, autosomal recessive	GPathogenic
Select item 829533	NM_021219.4(JAM2):c.1A>G (p.Met1Val)	JAM2 (M1V)	Single nucleotide variant (missense variant +2 more)	Basal ganglia calcification, idiopathic, 8, autosomal recessive	GPathogenic
Select item 829531	NM_021219.4(JAM2):c.143del (p.Ile47_Leu48insTer)	JAM2	Deletion (nonsense +2 more)	Basal ganglia calcification, idiopathic, 8, autosomal recessive	GPathogenic
Select item 816143	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29325923)x1	ADAMTS1, ADAMTS5 +23 more	Copy number loss	not provided	GPathogenic
Select item 777613	NM_021219.4(JAM2):c.411A>G (p.Pro137=)	JAM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 687518	GRCh37/hg19 21q21.3(chr21:26908459-27358327)x3	APP, ATP5PF +4 more	Copy number gain	not provided	GUncertain significance
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 685304	GRCh37/hg19 21q21.3(chr21:27059436-27125064)x3	ATP5PF, GABPA +1 more	Copy number gain	not provided	GUncertain significance
Select item 685264	GRCh37/hg19 21q21.3(chr21:27061160-27125064)x3	ATP5PF, GABPA +1 more	Copy number gain	not provided	GUncertain significance
Select item 635905	Single allele	ADAMTS1, ADAMTS5 +23 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 442418	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29225300)x1	ADAMTS1, ADAMTS5 +23 more	Copy number loss	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 393796	GRCh37/hg19 21q21.3(chr21:27081748-27142633)x3	ATP5PF, GABPA +1 more	Copy number gain	See cases	GUncertain significance
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 236549	GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)	HSPA13, JAM2 +209 more	Copy number loss	Monosomy 21	GPathogenic
Select item 236548	GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)	LOC125418053, LOC125418054 +219 more	Copy number loss	Monosomy 21	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +215 more	Copy number loss	Monosomy 21	GPathogenic
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 155682	GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1	ADAMTS1, ADAMTS5 +214 more	Copy number loss	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 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	LOC130066520, LOC130066521 +213 more	Copy number loss	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 150018	GRCh38/hg38 21q21.1-21.3(chr21:22270514-27695129)x1	ADAMTS1, ADAMTS5 +72 more	Copy number loss	See cases	GLikely pathogenic
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

<< First< Prev

Page of 2