Related gene-specific medical variations for Gene (Select 51755) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265425	NM_016507.4(CDK12):c.731A>C (p.Gln244Pro)	CDK12, LOC126862553 (Q244P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265413	NM_016507.4(CDK12):c.347A>G (p.His116Arg)	CDK12, LOC126862553 (H116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3141473	NM_016507.4(CDK12):c.349A>G (p.Arg117Gly)	CDK12, LOC126862553 (R117G)	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 disorder	GLikely benign
Select item 3042423	NM_016507.4(CDK12):c.384C>T (p.Thr128=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	CDK12-related disorder	GLikely benign
Select item 3038610	NM_016507.4(CDK12):c.234T>A (p.Ser78=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	CDK12-related disorder	GBenign
Select item 3035867	NM_016507.4(CDK12):c.912C>G (p.Pro304=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	CDK12-related disorder	GLikely benign
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 2541189	NM_016507.4(CDK12):c.758C>G (p.Ser253Cys)	CDK12, LOC126862553 (S253C)	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 2494012	NM_016507.4(CDK12):c.613G>C (p.Glu205Gln)	CDK12, LOC126862553 (E205Q)	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 2394452	NM_016507.4(CDK12):c.544G>A (p.Glu182Lys)	CDK12, LOC126862553 (E182K)	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 2326998	NM_016507.4(CDK12):c.692C>A (p.Ser231Tyr)	CDK12, LOC126862553 (S231Y)	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 1678981	NM_016507.4(CDK12):c.966A>G (p.Arg322=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	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=)	LOC126862553, CDK12	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1678977	NM_016507.4(CDK12):c.-20T>C	LOC126862553, CDK12	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 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)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 635882	Single allele	CDK12	Deletion	Growth abnormality	GUncertain significance
Select item 133872	NM_016507.4(CDK12):c.1988G>A (p.Arg663His)	CDK12 (R663H)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133871	NM_016507.4(CDK12):c.1913G>C (p.Gly638Ala)	CDK12 (G638A)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133870	NM_016507.4(CDK12):c.1579C>A (p.Pro527Thr)	CDK12 (P527T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133869	NM_016507.4(CDK12):c.1855A>G (p.Ile619Val)	CDK12 (I619V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133868	NM_016507.4(CDK12):c.1705_1707del (p.Ser569del)	CDK12 (S569del)	Deletion (inframe_deletion)	not specified	Gnot provided
Select item 133867	NM_016507.4(CDK12):c.4402T>C (p.Tyr1468His)	CDK12 (Y1459H +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133866	NM_016507.4(CDK12):c.3859T>G (p.Ser1287Ala)	CDK12 (S1278A +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133864	NM_016507.4(CDK12):c.3997C>T (p.Arg1333Cys)	CDK12 (R1324C +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133862	NM_016507.4(CDK12):c.4415A>G (p.Tyr1472Cys)	CDK12 (Y1463C +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133861	NM_016507.4(CDK12):c.4276A>G (p.Ser1426Gly)	CDK12 (S1417G +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133858	NM_016507.4(CDK12):c.3569C>G (p.Pro1190Arg)	CDK12 (P1190R)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Links from Gene

Items: 38