"ITMI"[submitter] AND "CDK12"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 133868	NM_016507.4(CDK12):c.1705_1707del (p.Ser569del)	CDK12 (S569del)	Deletion (inframe_deletion)	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 133871	NM_016507.4(CDK12):c.1913G>C (p.Gly638Ala)	CDK12 (G638A)	Single nucleotide variant (missense variant)	not specified	Gnot provided
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 133856	NM_016507.4(CDK12):c.2964C>T (p.Phe988=)	CDK12	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 133857	NM_016507.4(CDK12):c.3391A>G (p.Ile1131Val)	CDK12 (I1131V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 133860	NM_016507.4(CDK12):c.3566T>A (p.Leu1189Gln)	CDK12 (L1189Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 133858	NM_016507.4(CDK12):c.3569C>G (p.Pro1190Arg)	CDK12 (P1190R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133859	NM_016507.4(CDK12):c.3584C>T (p.Thr1195Met)	CDK12 (T1195M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 133863	NM_016507.4(CDK12):c.3824C>T (p.Pro1275Leu)	CDK12 (P1266L +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
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 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 133865	NM_016507.4(CDK12):c.4381G>T (p.Gly1461Cys)	CDK12 (G1452C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 133862	NM_016507.4(CDK12):c.4415A>G (p.Tyr1472Cys)	CDK12 (Y1463C +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided