ClinVar for Gene (Select 1010) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265173	NM_004061.5(CDH12):c.841T>A (p.Ser281Thr)	CDH12 (S281T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265169	NM_004061.5(CDH12):c.2367C>A (p.Asn789Lys)	CDH12 (N789K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265168	NM_004061.5(CDH12):c.1643C>T (p.Ala548Val)	CDH12 (A548V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265167	NM_004061.5(CDH12):c.262A>G (p.Thr88Ala)	CDH12 (T88A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265166	NM_004061.5(CDH12):c.1798T>A (p.Ser600Thr)	CDH12 (S560T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265165	NM_004061.5(CDH12):c.2153A>G (p.His718Arg)	CDH12 (H494R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265164	NM_004061.5(CDH12):c.1157A>G (p.Lys386Arg)	CDH12 (K346R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3141098	NM_004061.5(CDH12):c.977A>G (p.Gln326Arg)	CDH12 (Q286R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141097	NM_004061.5(CDH12):c.95C>G (p.Ala32Gly)	CDH12 (A32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141096	NM_004061.5(CDH12):c.958G>A (p.Val320Ile)	CDH12 (V280I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141095	NM_004061.5(CDH12):c.827T>C (p.Leu276Ser)	CDH12 (L52S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141093	NM_004061.5(CDH12):c.52G>C (p.Gly18Arg)	CDH12 (G18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141092	NM_004061.5(CDH12):c.2356G>A (p.Glu786Lys)	CDH12 (E562K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141091	NM_004061.5(CDH12):c.2260A>G (p.Ile754Val)	CDH12 (I714V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141090	NM_004061.5(CDH12):c.2204C>T (p.Ser735Leu)	CDH12 (S695L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141089	NM_004061.5(CDH12):c.2171A>C (p.Asn724Thr)	CDH12 (N500T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141088	NM_004061.5(CDH12):c.2102C>G (p.Pro701Arg)	CDH12 (P477R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141087	NM_004061.5(CDH12):c.1844G>A (p.Gly615Glu)	CDH12 (G575E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141086	NM_004061.5(CDH12):c.1755G>A (p.Met585Ile)	CDH12 (M545I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141085	NM_004061.5(CDH12):c.1489G>A (p.Val497Met)	CDH12 (V497M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141084	NM_004061.5(CDH12):c.1361A>G (p.Gln454Arg)	CDH12 (Q414R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141083	NM_004061.5(CDH12):c.1122C>G (p.Ser374Arg)	CDH12 (S150R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141082	NM_004061.5(CDH12):c.1003C>T (p.Pro335Ser)	CDH12 (P295S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062865	GRCh37/hg19 5p14.3-14.1(chr5:20705662-26089042)x3	CDH10, CDH12 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685149	GRCh37/hg19 5p14.3(chr5:21122431-22521043)x1	CDH12	Copy number loss	not provided	GUncertain significance
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684411	GRCh37/hg19 5p14.3(chr5:21643506-22003203)x3	CDH12	Copy number gain	not provided	GUncertain significance
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2570322	NM_004061.5(CDH12):c.372C>A (p.Phe124Leu)	CDH12 (F124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513791	NM_004061.5(CDH12):c.1301T>C (p.Ile434Thr)	CDH12 (I210T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508344	NM_004061.5(CDH12):c.1763G>A (p.Arg588Gln)	CDH12 (R364Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508036	NM_004061.5(CDH12):c.376A>G (p.Thr126Ala)	CDH12 (T126A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492785	NM_004061.5(CDH12):c.964G>T (p.Asp322Tyr)	CDH12 (D282Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481282	NM_004061.5(CDH12):c.748G>T (p.Ala250Ser)	CDH12 (A250S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472172	NM_004061.5(CDH12):c.1981G>A (p.Asp661Asn)	CDH12 (D661N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389595	NM_004061.5(CDH12):c.847C>G (p.Pro283Ala)	CDH12 (P283A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368685	NM_004061.5(CDH12):c.137G>A (p.Arg46Gln)	CDH12 (R46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368015	NM_004061.5(CDH12):c.136C>T (p.Arg46Trp)	CDH12 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367025	NM_004061.5(CDH12):c.1444G>A (p.Val482Ile)	CDH12 (V258I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358480	NM_004061.5(CDH12):c.2119A>G (p.Met707Val)	CDH12 (M483V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353954	NM_004061.5(CDH12):c.2284G>T (p.Asp762Tyr)	CDH12 (D538Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353840	NM_004061.5(CDH12):c.1976A>T (p.His659Leu)	CDH12 (H435L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352256	NM_004061.5(CDH12):c.484G>C (p.Asp162His)	CDH12 (D162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329902	NM_004061.5(CDH12):c.581A>G (p.Asn194Ser)	CDH12 (N194S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318621	NM_004061.5(CDH12):c.352G>A (p.Asp118Asn)	CDH12 (D118N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307303	NM_004061.5(CDH12):c.1160C>T (p.Pro387Leu)	CDH12 (P347L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304535	NM_004061.5(CDH12):c.15C>G (p.Asn5Lys)	CDH12 (N5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288305	NM_004061.5(CDH12):c.1847C>T (p.Ala616Val)	CDH12 (A392V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276134	NM_004061.5(CDH12):c.2179G>A (p.Asp727Asn)	CDH12 (D727N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246368	NM_004061.5(CDH12):c.919A>G (p.Asn307Asp)	CDH12 (N307D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235511	NM_004061.5(CDH12):c.1141C>A (p.Pro381Thr)	CDH12 (P157T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226802	NM_004061.5(CDH12):c.599A>T (p.Tyr200Phe)	CDH12 (Y200F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210727	NM_004061.5(CDH12):c.2188G>A (p.Ala730Thr)	CDH12 (A690T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1809038	GRCh37/hg19 5p14.3(chr5:21740926-21792313)x1	CDH12	Copy number loss	not provided	GUncertain significance
Select item 1808561	GRCh37/hg19 5p14.3(chr5:21633198-22012296)x3	CDH12	Copy number gain	not provided	GUncertain significance
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1807840	GRCh37/hg19 5p15.31-14.3(chr5:8081005-22210970)x1	ANKH, ANKRD33B +23 more	Copy number loss	not provided	GPathogenic
Select item 1807782	GRCh37/hg19 5p14.3(chr5:22130874-22556566)x1	CDH12	Copy number loss	not provided	GUncertain significance
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1012369	GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	MARCHF11, MARCHF6 +67 more	Copy number loss	See cases	GPathogenic
Select item 979513	GRCh37/hg19 5p15.1-14.2(chr5:16741484-23963898)x3	LINC02899, MYO10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979511	GRCh37/hg19 5p14.3-14.2(chr5:22546550-23554888)x1	PRDM9, CDH12	Copy number loss	not provided	GUncertain significance
Select item 979510	GRCh37/hg19 5p14.3-13.3(chr5:19324003-30115028)x3	CDH9, LINC02899 +4 more	Copy number gain	not provided	GUncertain significance
Select item 915985	GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	LPCAT1, MYO10 +63 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 814675	GRCh37/hg19 5p14.3-14.2(chr5:22840105-23682150)x4	PRDM9, CDH12	Copy number gain	not provided	GUncertain significance
Select item 814674	GRCh37/hg19 5p14.3(chr5:22284859-22762721)x1	CDH12	Copy number loss	not provided	GUncertain significance
Select item 814673	GRCh37/hg19 5p14.3-14.2(chr5:22265414-24492214)x3	CDH12, CDH10 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814672	GRCh37/hg19 5p14.3(chr5:21528584-21845788)x3	CDH12	Copy number gain	not provided	GUncertain significance
Select item 814670	GRCh37/hg19 5p14.3(chr5:20002584-22393176)x3	CDH12	Copy number gain	not provided	GUncertain significance
Select item 814652	GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	not provided	GPathogenic
Select item 790399	NM_004061.5(CDH12):c.639C>G (p.Pro213=)	CDH12	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 786529	NM_004061.5(CDH12):c.780C>T (p.Thr260=)	CDH12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784491	NM_004061.5(CDH12):c.1424T>C (p.Ile475Thr)	CDH12 (I435T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773930	NM_004061.5(CDH12):c.1047G>T (p.Glu349Asp)	CDH12 (E125D +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773879	NM_004061.5(CDH12):c.1003-3C>T	CDH12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 767996	NM_004061.5(CDH12):c.2270T>C (p.Leu757Pro)	CDH12 (L533P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 759349	NM_004061.5(CDH12):c.327G>A (p.Gly109=)	CDH12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 759348	NM_004061.5(CDH12):c.1473G>A (p.Val491=)	CDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757730	NM_004061.5(CDH12):c.666G>A (p.Leu222=)	CDH12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 754577	NM_004061.5(CDH12):c.1179T>G (p.Val393=)	CDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753996	NM_004061.5(CDH12):c.621T>A (p.Pro207=)	CDH12	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 742811	NM_004061.5(CDH12):c.1644G>A (p.Ala548=)	CDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741395	NM_004061.5(CDH12):c.1848G>A (p.Ala616=)	CDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739263	NM_004061.5(CDH12):c.1585T>C (p.Ser529Pro)	CDH12 (S305P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 738814	NM_004061.5(CDH12):c.393T>G (p.Ala131=)	CDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732107	NM_004061.5(CDH12):c.100G>C (p.Glu34Gln)	CDH12 (E34Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 730299	NM_004061.5(CDH12):c.2340C>T (p.Asp780=)	CDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728147	NM_004061.5(CDH12):c.2223C>T (p.Tyr741=)	CDH12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723704	NM_004061.5(CDH12):c.1794C>T (p.Ile598=)	CDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719673	NM_004061.5(CDH12):c.570G>A (p.Pro190=)	CDH12	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 714620	NM_004061.5(CDH12):c.1596T>C (p.Ala532=)	CDH12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708682	NM_004061.5(CDH12):c.180A>G (p.Gln60=)	CDH12	Single nucleotide variant (synonymous variant)	not provided	GBenign

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