Related gene-specific medical variations for Gene (Select 262) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2247433	NM_015076.5(CDK19):c.46G>A (p.Val16Met)	AMD1, CDK19 (V16M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 975816	NM_015076.5(CDK19):c.95A>G (p.Tyr32Cys)	AMD1, CDK19 (Y32C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GConflicting classifications of pathogenicity
Select item 975815	NM_015076.5(CDK19):c.82G>A (p.Gly28Arg)	AMD1, CDK19 (G28R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GPathogenic
Select item 973853	NM_015076.5(CDK19):c.92C>A (p.Thr31Asn)	AMD1, CDK19 (T31N)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GPathogenic/Likely pathogenic
Select item 973825	NM_015076.5(CDK19):c.83G>C (p.Gly28Ala)	CDK19, AMD1 (G28A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 973822	NM_015076.5(CDK19):c.82G>C (p.Gly28Arg)	AMD1, CDK19 (G28R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 929848	NM_015076.5(CDK19):c.94T>C (p.Tyr32His)	AMD1, CDK19 (Y32H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GPathogenic
Select item 393733	GRCh37/hg19 6q21(chr6:111185776-111216743)x3	AMD1	Copy number gain	See cases	GBenign

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