4040[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 523

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	APOLD1, BCL2L14 +121 more	Copy number loss	See cases	GPathogenic
Select item 2665013	GRCh38/hg38 12p13.2-13.1(chr12:12003929-12652405)	DUSP16, LOC124625907 +54 more	Copy number gain	not provided	GUncertain significance
Select item 2771179	NM_002336.3(LRP6):c.4823C>T (p.Pro1608Leu)	LRP6 (P1457L +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 545126	NM_002336.3(LRP6):c.4822C>T (p.Pro1608Ser)	LRP6 (P1608S)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2892645	NM_002336.3(LRP6):c.4800C>T (p.His1600=)	LRP6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1971520	NM_002336.3(LRP6):c.4783A>G (p.Arg1595Gly)	LRP6 (R1444G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715645	NM_002336.3(LRP6):c.4719C>T (p.Pro1573=)	LRP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1175818	NM_002336.3(LRP6):c.4697del (p.Pro1566fs)	LRP6 (P1566fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3067644	NM_002336.3(LRP6):c.4649T>C (p.Val1550Ala)	LRP6 (V1381A +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1902637	NM_002336.3(LRP6):c.4627C>T (p.Pro1543Ser)	LRP6 (P1374S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990575	NM_002336.3(LRP6):c.4601C>G (p.Thr1534Arg)	LRP6 (T1383R +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1983545	NM_002336.3(LRP6):c.4600A>C (p.Thr1534Pro)	LRP6 (T1365P +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225147	NM_002336.3(LRP6):c.4593del (p.Cys1532fs)	LRP6 (C1532fs)	Deletion (frameshift variant)	Orofacial cleft +1 more	GPathogenic
Select item 1598729	NM_002336.3(LRP6):c.4584C>A (p.Pro1528=)	LRP6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1999425	NM_002336.3(LRP6):c.4579C>A (p.Pro1527Thr)	LRP6 (P1358T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725504	NM_002336.3(LRP6):c.4568G>A (p.Arg1523Gln)	LRP6 (R1402Q +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2493175	NM_002336.3(LRP6):c.4567C>T (p.Arg1523Trp)	LRP6 (R1478W +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1635636	NM_002336.3(LRP6):c.4551C>T (p.Tyr1517=)	LRP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968174	NM_002336.3(LRP6):c.4548-6T>A	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289846	NM_002336.3(LRP6):c.4547+187dup	LRP6	Duplication (intron variant)	not provided	GBenign
Select item 1673898	NM_002336.3(LRP6):c.4547+20A>C	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2464538	NM_002336.3(LRP6):c.4525C>T (p.Pro1509Ser)	LRP6 (P1443S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2099184	NM_002336.3(LRP6):c.4511A>G (p.Tyr1504Cys)	LRP6 (Y1353C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2270327	NM_002336.3(LRP6):c.4486T>C (p.Ser1496Pro)	LRP6 (S1345P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374736	NM_002336.3(LRP6):c.4484G>A (p.Arg1495Gln)	LRP6 (R1344Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191643	NM_002336.3(LRP6):c.4470C>G (p.Ser1490=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2023720	NM_002336.3(LRP6):c.4460del (p.Pro1487fs)	LRP6 (P1487fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3019048	NM_002336.3(LRP6):c.4450-8dup	LRP6	Duplication (intron variant)	not provided	GLikely benign
Select item 779518	NM_002336.3(LRP6):c.4450-8del	LRP6	Deletion (intron variant)	not provided	GBenign
Select item 2973107	NM_002336.3(LRP6):c.4450-20T>G	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249646	NM_002336.3(LRP6):c.4450-136A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264969	NM_002336.3(LRP6):c.4450-251A>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250653	NM_002336.3(LRP6):c.4449+178T>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1352422	NM_002336.3(LRP6):c.4447G>C (p.Ala1483Pro)	LRP6 (A1483P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714945	NM_002336.3(LRP6):c.4445C>T (p.Pro1482Leu)	LRP6 (P1313L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2060296	NM_002336.3(LRP6):c.4440C>T (p.Tyr1480=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1255584	NM_002336.3(LRP6):c.4436C>T (p.Thr1479Ile)	LRP6 (T1479I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182293	NM_002336.3(LRP6):c.4389C>T (p.Ala1463=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	LRP6-related condition +1 more	GLikely benign
Select item 2200983	NM_002336.3(LRP6):c.4379A>G (p.Tyr1460Cys)	LRP6 (Y1339C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809638	NM_002336.3(LRP6):c.4377dup (p.Tyr1460fs)	LRP6 (Y1460fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1255583	NM_002336.3(LRP6):c.4376C>G (p.Pro1459Arg)	LRP6 (P1459R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2326464	NM_002336.3(LRP6):c.4375C>A (p.Pro1459Thr)	LRP6 (P1290T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1488601	NM_002336.3(LRP6):c.4370G>T (p.Gly1457Val)	LRP6 (G1457V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2265129	NM_002336.3(LRP6):c.4364G>A (p.Ser1455Asn)	LRP6 (S1286N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 975932	NM_002336.3(LRP6):c.4361dup (p.Ser1455fs)	LRP6 (S1455fs)	Duplication (frameshift variant)	Microcephaly +4 more	GUncertain significance
Select item 2181316	NM_002336.3(LRP6):c.4357G>A (p.Gly1453Arg)	LRP6 (G1302R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642734	NM_002336.3(LRP6):c.4354A>T (p.Met1452Leu)	LRP6 (M1331L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895745	NM_002336.3(LRP6):c.4333A>G (p.Met1445Val)	LRP6 (M1294V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983921	NM_002336.3(LRP6):c.4313G>C (p.Gly1438Ala)	LRP6 (G1469A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2983676	NM_002336.3(LRP6):c.4313-13C>T	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286596	NM_002336.3(LRP6):c.4313-101A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295891	NM_002336.3(LRP6):c.4313-102T>A	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233846	NM_002336.3(LRP6):c.4313-321A>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238981	NM_002336.3(LRP6):c.4312+264C>T	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231004	NM_002336.3(LRP6):c.4312+230A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1601072	NM_002336.3(LRP6):c.4312+20T>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 734095	NM_002336.3(LRP6):c.4312+10G>A	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2339682	NM_002336.3(LRP6):c.4303T>C (p.Ser1435Pro)	LRP6 (S1266P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225160	NM_002336.3(LRP6):c.4298C>T (p.Ser1433Leu)	LRP6 (S1433L)	Single nucleotide variant (missense variant)	Orofacial cleft +1 more	GUncertain significance
Select item 2365336	NM_002336.3(LRP6):c.4295T>C (p.Leu1432Ser)	LRP6 (L1311S +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1518933	NM_002336.3(LRP6):c.4265C>G (p.Pro1422Arg)	LRP6 (P1422R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417857	NM_002336.3(LRP6):c.4247A>G (p.His1416Arg)	LRP6 (H1247R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067411	NM_002336.3(LRP6):c.4243G>C (p.Val1415Leu)	LRP6 (V1370L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976307	NM_002336.3(LRP6):c.4231A>T (p.Asn1411Tyr)	LRP6 (N1366Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 731280	NM_002336.3(LRP6):c.4230T>C (p.Thr1410=)	LRP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3120328	NM_002336.3(LRP6):c.4214A>T (p.Asp1405Val)	LRP6 (D1284V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778973	NM_002336.3(LRP6):c.4202G>A (p.Arg1401His)	LRP6 (R1401H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2105827	NM_002336.3(LRP6):c.4194G>T (p.Leu1398Phe)	LRP6 (L1332F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068719	NM_002336.3(LRP6):c.4194G>A (p.Leu1398=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2755733	NM_002336.3(LRP6):c.4176dup (p.Ile1393fs)	LRP6 (I1224fs +6 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 710129	NM_002336.3(LRP6):c.4144G>T (p.Val1382Phe)	LRP6 (V1382F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 225159	NM_002336.3(LRP6):c.4136G>A (p.Gly1379Asp)	LRP6 (G1379D)	Single nucleotide variant (missense variant)	Orofacial cleft +1 more	GUncertain significance
Select item 718122	NM_002336.3(LRP6):c.4120G>A (p.Val1374Ile)	LRP6 (V1374I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2972057	NM_002336.3(LRP6):c.4115A>G (p.Asn1372Ser)	LRP6 (N1203S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1601093	NM_002336.3(LRP6):c.4106A>G (p.Gln1369Arg)	LRP6 (Q1369R)	Single nucleotide variant (missense variant)	LRP6-related condition +1 more	GBenign/Likely benign
Select item 2572177	NM_002336.3(LRP6):c.4093G>T (p.Glu1365Ter)	LRP6 (E1196* +6 more)	Single nucleotide variant (nonsense +1 more)	Tooth agenesis, selective, 7	GPathogenic
Select item 2955383	NM_002336.3(LRP6):c.4086G>A (p.Pro1362=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2179755	NM_002336.3(LRP6):c.4085C>T (p.Pro1362Leu)	LRP6 (P1296L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225153	NM_002336.3(LRP6):c.4082-2A>G	LRP6	Single nucleotide variant (splice acceptor variant)	Tooth agenesis	GLikely pathogenic
Select item 2968281	NM_002336.3(LRP6):c.4082-8_4082-6del	LRP6	Deletion (intron variant)	not provided	GLikely benign
Select item 1559687	NM_002336.3(LRP6):c.4082-17T>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244466	NM_002336.3(LRP6):c.4081+264C>T	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248812	NM_002336.3(LRP6):c.4081+253A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3003632	NM_002336.3(LRP6):c.4081+16A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069333	NM_002336.3(LRP6):c.4062G>C (p.Lys1354Asn)	LRP6 (K1309N +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2172244	NM_002336.3(LRP6):c.4026C>T (p.His1342=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2252185	NM_002336.3(LRP6):c.3994C>T (p.Arg1332Cys)	LRP6 (R1181C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2972603	NM_002336.3(LRP6):c.3990G>C (p.Gln1330His)	LRP6 (Q1161H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 762932	NM_002336.3(LRP6):c.3972G>A (p.Val1324=)	LRP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 6