ClinVar for Gene (Select 51755) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 134

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141485	NM_016507.4(CDK12):c.671A>C (p.His224Pro)	CDK12, LOC126862553 (H224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141484	NM_016507.4(CDK12):c.632A>C (p.Lys211Thr)	CDK12, LOC126862553 (K211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141483	NM_016507.4(CDK12):c.4312C>G (p.Gln1438Glu)	CDK12 (Q1429E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141482	NM_016507.4(CDK12):c.4244T>A (p.Val1415Glu)	CDK12 (V1415E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141481	NM_016507.4(CDK12):c.4010C>T (p.Thr1337Ile)	CDK12 (T1337I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141480	NM_016507.4(CDK12):c.3976A>G (p.Met1326Val)	CDK12 (M1317V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141479	NM_016507.4(CDK12):c.3910C>T (p.Leu1304Phe)	CDK12 (L1304F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141478	NM_016507.4(CDK12):c.3871C>G (p.Gln1291Glu)	CDK12 (Q1282E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141477	NM_016507.4(CDK12):c.3679C>G (p.Leu1227Val)	CDK12 (L1227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141476	NM_016507.4(CDK12):c.3652A>G (p.Met1218Val)	CDK12 (M1218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141475	NM_016507.4(CDK12):c.3616A>G (p.Met1206Val)	CDK12 (M1206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141474	NM_016507.4(CDK12):c.3520G>T (p.Ala1174Ser)	CDK12 (A1174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141473	NM_016507.4(CDK12):c.349A>G (p.Arg117Gly)	CDK12, LOC126862553 (R117G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141472	NM_016507.4(CDK12):c.3302C>T (p.Ala1101Val)	CDK12 (A1101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141469	NM_016507.4(CDK12):c.1294A>C (p.Asn432His)	CDK12 (N432H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055556	NM_016507.4(CDK12):c.267C>T (p.Phe89=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	CDK12-related condition	GLikely benign
Select item 3052381	NM_016507.4(CDK12):c.3839C>T (p.Pro1280Leu)	CDK12 (P1271L +1 more)	Single nucleotide variant (missense variant)	CDK12-related condition	GLikely benign
Select item 3043246	NM_016507.4(CDK12):c.3717G>A (p.Gln1239=)	CDK12	Single nucleotide variant (synonymous variant)	CDK12-related condition	GLikely benign
Select item 3042823	NM_016507.4(CDK12):c.1815A>G (p.Val605=)	CDK12	Single nucleotide variant (synonymous variant)	CDK12-related condition	GLikely benign
Select item 3042423	NM_016507.4(CDK12):c.384C>T (p.Thr128=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	CDK12-related condition	GLikely benign
Select item 3040105	NM_016507.4(CDK12):c.1248T>C (p.Asp416=)	CDK12	Single nucleotide variant (synonymous variant)	CDK12-related condition	GLikely benign
Select item 3039024	NM_016507.4(CDK12):c.2892C>A (p.Ile964=)	CDK12	Single nucleotide variant (synonymous variant)	CDK12-related condition	GLikely benign
Select item 3038610	NM_016507.4(CDK12):c.234T>A (p.Ser78=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	CDK12-related condition	GBenign
Select item 3035867	NM_016507.4(CDK12):c.912C>G (p.Pro304=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	CDK12-related condition	GLikely benign
Select item 3034908	NM_016507.4(CDK12):c.3051C>T (p.Ser1017=)	CDK12	Single nucleotide variant (synonymous variant)	CDK12-related condition	GLikely benign
Select item 3028958	NM_016507.4(CDK12):c.3075C>T (p.Leu1025=)	CDK12	Single nucleotide variant (synonymous variant)	CDK12-related condition	GLikely benign
Select item 2621453	NM_016507.4(CDK12):c.3088C>T (p.Pro1030Ser)	CDK12 (P1030S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621346	NM_016507.4(CDK12):c.859T>C (p.Ser287Pro)	CDK12, LOC126862553 (S287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610635	NM_016507.4(CDK12):c.2047C>T (p.Pro683Ser)	CDK12 (P683S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598610	NM_016507.4(CDK12):c.4418G>A (p.Arg1473Gln)	CDK12 (R1464Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592608	NM_016507.4(CDK12):c.4040G>C (p.Gly1347Ala)	CDK12 (G1338A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567659	NM_016507.4(CDK12):c.1469A>G (p.His490Arg)	CDK12 (H490R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554234	NM_016507.4(CDK12):c.3017G>A (p.Ser1006Asn)	CDK12 (S1006N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541189	NM_016507.4(CDK12):c.758C>G (p.Ser253Cys)	CDK12, LOC126862553 (S253C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537511	NM_016507.4(CDK12):c.3794G>A (p.Arg1265Lys)	CDK12 (R1256K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531835	NM_016507.4(CDK12):c.3506A>T (p.Asp1169Val)	CDK12 (D1169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530162	NM_016507.4(CDK12):c.1264G>A (p.Gly422Ser)	CDK12 (G422S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514454	NM_016507.4(CDK12):c.659C>G (p.Ser220Cys)	CDK12, LOC126862553 (S220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495350	NM_016507.4(CDK12):c.2057C>T (p.Pro686Leu)	CDK12 (P686L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494012	NM_016507.4(CDK12):c.613G>C (p.Glu205Gln)	CDK12, LOC126862553 (E205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486722	NM_016507.4(CDK12):c.2626G>A (p.Ala876Thr)	CDK12 (A876T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472102	NM_016507.4(CDK12):c.4436C>T (p.Pro1479Leu)	CDK12 (P1479L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460520	NM_016507.4(CDK12):c.260T>C (p.Met87Thr)	CDK12, LOC126862553 (M87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459360	NM_016507.4(CDK12):c.1400A>G (p.His467Arg)	CDK12 (H467R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459015	NM_016507.4(CDK12):c.1387G>A (p.Val463Met)	CDK12 (V463M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394452	NM_016507.4(CDK12):c.544G>A (p.Glu182Lys)	CDK12, LOC126862553 (E182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393954	NM_016507.4(CDK12):c.1705T>C (p.Ser569Pro)	CDK12 (S569P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2385658	NM_016507.4(CDK12):c.4117A>G (p.Asn1373Asp)	CDK12 (N1364D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382243	NM_016507.4(CDK12):c.370A>G (p.Lys124Glu)	CDK12, LOC126862553 (K124E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340206	NM_016507.4(CDK12):c.2011C>T (p.Leu671Phe)	CDK12 (L671F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326998	NM_016507.4(CDK12):c.692C>A (p.Ser231Tyr)	CDK12, LOC126862553 (S231Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321745	NM_016507.4(CDK12):c.3992G>A (p.Arg1331Gln)	CDK12 (R1322Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321519	NM_016507.4(CDK12):c.3607C>T (p.Pro1203Ser)	CDK12 (P1203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316861	NM_016507.4(CDK12):c.1863C>A (p.His621Gln)	CDK12 (H621Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306550	NM_016507.4(CDK12):c.2980C>G (p.Leu994Val)	CDK12 (L994V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302372	NM_016507.4(CDK12):c.11C>T (p.Ser4Leu)	CDK12, LOC126862553 (S4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300022	NM_016507.4(CDK12):c.424T>A (p.Ser142Thr)	CDK12, LOC126862553 (S142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274004	NM_016507.4(CDK12):c.1640A>C (p.Gln547Pro)	CDK12 (Q547P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273314	NM_016507.4(CDK12):c.4283A>G (p.Asn1428Ser)	CDK12 (N1419S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238972	NM_016507.4(CDK12):c.1513C>T (p.Pro505Ser)	CDK12 (P505S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236067	NM_016507.4(CDK12):c.3677G>A (p.Ser1226Asn)	CDK12 (S1226N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1740171	NM_016507.4(CDK12):c.4382dup (p.Thr1463fs)	CDK12 (T1454fs +1 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 1686553	NM_016507.4(CDK12):c.4340C>G (p.Thr1447Ser)	CDK12 (T1438S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678997	NM_016507.4(CDK12):c.4423C>A (p.Pro1475Thr)	CDK12 (P1466T +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678996	NM_016507.4(CDK12):c.3566T>G (p.Leu1189Arg)	CDK12 (L1189R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1678995	NM_016507.4(CDK12):c.3315T>C (p.Ala1105=)	CDK12	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678994	NM_016507.4(CDK12):c.3308-26A>G	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678993	NM_016507.4(CDK12):c.3286T>C (p.Ser1096Pro)	CDK12 (S1096P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678992	NM_016507.4(CDK12):c.3024G>T (p.Arg1008=)	CDK12	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1678991	NM_016507.4(CDK12):c.2964-84G>A	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678990	NM_016507.4(CDK12):c.2847-48G>C	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678989	NM_016507.4(CDK12):c.2846+44A>G	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678988	NM_016507.4(CDK12):c.2667-12T>A	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678987	NM_016507.4(CDK12):c.2667-80T>C	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678986	NM_016507.4(CDK12):c.2249-32T>C	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678985	NM_016507.4(CDK12):c.2249-36C>T	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678984	NM_016507.4(CDK12):c.2248+61T>G	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678983	NM_016507.4(CDK12):c.1932-47C>T	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678982	NM_016507.4(CDK12):c.1302A>G (p.Ser434=)	CDK12	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1678981	NM_016507.4(CDK12):c.966A>G (p.Arg322=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1678980	NM_016507.4(CDK12):c.807C>T (p.Thr269=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678978	NM_016507.4(CDK12):c.271C>T (p.Leu91=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 1678977	NM_016507.4(CDK12):c.-20T>C	CDK12, LOC126862553	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678976	NM_016507.4(CDK12):c.-27T>C	CDK12, LOC126862553	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1289214	NM_016507.4(CDK12):c.3308-116C>T	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288218	NM_016507.4(CDK12):c.2666+17A>C	CDK12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1283608	NM_016507.4(CDK12):c.1932-221T>C	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283081	NM_016507.4(CDK12):c.1047-169G>A	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282732	NM_016507.4(CDK12):c.2846+157G>T	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281205	NM_016507.4(CDK12):c.2248+276G>T	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280676	NM_016507.4(CDK12):c.1932-181dup	CDK12	Duplication (intron variant)	not provided	GBenign
Select item 1271129	NM_016507.4(CDK12):c.3760+88A>G	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267414	NM_016507.4(CDK12):c.2248+291_2248+292dup	CDK12	Duplication (intron variant)	not provided	GBenign
Select item 1256806	NM_016507.4(CDK12):c.2108+56T>A	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 1253213	NM_016507.4(CDK12):c.2963+111T>A	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252879	NM_016507.4(CDK12):c.-105C>T	CDK12, LOC126862553	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1250047	NM_016507.4(CDK12):c.714G>A (p.Ser238=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1248169	NM_016507.4(CDK12):c.3307+194C>T	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247596	NM_016507.4(CDK12):c.2963+133G>A	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246457	NM_016507.4(CDK12):c.2963+252T>C	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2