CDK17[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 2313325	NM_002595.5(CDK17):c.1511G>A (p.Arg504Gln)	CDK17 (R504Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141522	NM_002595.5(CDK17):c.1505G>C (p.Gly502Ala)	CDK17 (G502A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141521	NM_002595.5(CDK17):c.1502C>T (p.Pro501Leu)	CDK17 (P501L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355013	NM_002595.5(CDK17):c.1465A>G (p.Ile489Val)	CDK17 (I489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343494	NM_002595.5(CDK17):c.1376A>T (p.Lys459Met)	CDK17 (K459M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617811	NM_002595.5(CDK17):c.1282C>G (p.Pro428Ala)	CDK17 (P428A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393069	NM_002595.5(CDK17):c.1240C>A (p.Pro414Thr)	CDK17 (P414T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141518	NM_002595.5(CDK17):c.1093G>A (p.Glu365Lys)	CDK17 (E365K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599059	NM_002595.5(CDK17):c.1091C>T (p.Ser364Leu)	CDK17 (S364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224977	NM_002595.5(CDK17):c.868G>A (p.Val290Ile)	CDK17 (V290I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212769	NM_002595.5(CDK17):c.862C>A (p.His288Asn)	CDK17 (H288N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327272	NM_002595.5(CDK17):c.830A>G (p.Tyr277Cys)	CDK17 (Y277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768572	NM_002595.5(CDK17):c.716-4G>A	CDK17	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2612854	NM_002595.5(CDK17):c.652G>C (p.Val218Leu)	CDK17 (V218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320567	NM_002595.5(CDK17):c.563A>G (p.Lys188Arg)	CDK17 (K188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271794	NM_002595.5(CDK17):c.489A>G (p.Ile163Met)	CDK17 (I163M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322843	NM_002595.5(CDK17):c.451A>C (p.Ile151Leu)	CDK17 (I151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493067	NM_002595.5(CDK17):c.412A>G (p.Met138Val)	CDK17 (M138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274304	NM_002595.5(CDK17):c.403C>T (p.Arg135Trp)	CDK17 (R135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604008	NM_002595.5(CDK17):c.202C>T (p.Pro68Ser)	CDK17 (P68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141520	NM_002595.5(CDK17):c.148A>G (p.Thr50Ala)	CDK17 (T50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206458	NM_002595.5(CDK17):c.28C>T (p.Leu10Phe)	CDK17 (L10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221492	GRCh37/hg19 12q23.1(chr12:96422898-98921728)x3	NEDD1, RMST +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 29