ClinVar for MedGen (Select 462476) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 892451	NM_001254.4(CDC6):c.179-14T>C	CDC6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892450	NM_001254.4(CDC6):c.129C>T (p.Thr43=)	CDC6	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 891310	NM_001254.4(CDC6):c.*733A>G	CDC6	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 5	GLikely benign
Select item 891309	NM_001254.4(CDC6):c.*635G>T	CDC6	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 891308	NM_001254.4(CDC6):c.*84G>A	CDC6	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 889773	NM_001254.4(CDC6):c.1591A>G (p.Lys531Glu)	CDC6 (K531E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 889772	NM_001254.4(CDC6):c.1184+10G>A	CDC6	Single nucleotide variant (intron variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 889771	NM_001254.4(CDC6):c.1133G>A (p.Arg378His)	CDC6 (R378H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 889770	NM_001254.4(CDC6):c.1084-15A>G	CDC6	Single nucleotide variant (intron variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 889073	NM_001254.4(CDC6):c.894C>T (p.Tyr298=)	CDC6	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 889072	NM_001254.4(CDC6):c.508G>A (p.Asp170Asn)	CDC6 (D170N)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 631769	NM_001254.4(CDC6):c.1556T>G (p.Leu519Ter)	CDC6 (L519*)	Single nucleotide variant (nonsense)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 434626	NM_001254.4(CDC6):c.897G>A (p.Thr299=)	CDC6	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 323068	NM_001254.4(CDC6):c.*747G>A	CDC6	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 323067	NM_001254.4(CDC6):c.*653C>A	CDC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 323065	NM_001254.4(CDC6):c.*414C>T	CDC6	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 323064	NM_001254.4(CDC6):c.*358G>T	CDC6	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 5	GLikely benign
Select item 323062	NM_001254.4(CDC6):c.*353T>G	CDC6	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 323061	NM_001254.4(CDC6):c.*181A>G	CDC6	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 323059	NM_001254.4(CDC6):c.1512A>G (p.Ser504=)	CDC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 323058	NM_001254.4(CDC6):c.1020G>A (p.Leu340=)	CDC6	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 323057	NM_001254.4(CDC6):c.845T>C (p.Val282Ala)	CDC6 (V282A)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 5 +1 more	GUncertain significance
Select item 323056	NM_001254.4(CDC6):c.799T>C (p.Leu267=)	CDC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 323055	NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter)	CDC6 (Y199*)	Single nucleotide variant (nonsense)	Meier-Gorlin syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 323054	NM_001254.4(CDC6):c.464C>T (p.Thr155Ile)	CDC6 (T155I)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 323052	NM_001254.4(CDC6):c.-14+8G>C	CDC6	Single nucleotide variant (intron variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 323051	NM_001254.4(CDC6):c.-36T>G	CDC6	Single nucleotide variant (5 prime UTR variant)	Meier-Gorlin syndrome 5	GUncertain significance
Select item 210621	NM_001254.4(CDC6):c.712A>G (p.Thr238Ala)	CDC6 (T238A)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 210619	NM_001254.4(CDC6):c.165C>T (p.Pro55=)	CDC6	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 5 +2 more	GBenign/Likely benign
Select item 128639	NM_001254.4(CDC6):c.896C>T (p.Thr299Met)	CDC6 (T299M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 128638	NM_001254.4(CDC6):c.883G>A (p.Asp295Asn)	CDC6 (D295N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 128636	NM_001254.4(CDC6):c.438T>C (p.Cys146=)	CDC6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 128635	NM_001254.4(CDC6):c.1321G>A (p.Val441Ile)	CDC6 (V441I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 30271	NM_001254.4(CDC6):c.968C>G (p.Thr323Arg)	CDC6 (T323R)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 5	GPathogenic

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Items: 34