ClinVar for MedGen (Select 462470) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065541	NM_030928.4(CDT1):c.1381C>A (p.Leu461Met)	CDT1 (L461M)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4	GUncertain significance
Select item 3064758	NM_030928.4(CDT1):c.610G>A (p.Val204Met)	CDT1 (V204M)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4	GUncertain significance
Select item 2503832	NM_030928.4(CDT1):c.166_167delinsA (p.Ala56fs)	CDT1 (A56fs)	Indel (frameshift variant)	Meier-Gorlin syndrome 4	GPathogenic
Select item 2439891	NM_030928.4(CDT1):c.260A>G (p.Asp87Gly)	CDT1 (D87G)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4	GUncertain significance
Select item 2431870	NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)	CDT1 (K218*)	Single nucleotide variant (nonsense)	Meier-Gorlin syndrome 4	GLikely pathogenic
Select item 1469510	NM_030928.4(CDT1):c.748C>T (p.Arg250Cys)	CDT1 (R250C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1324040	NM_030928.4(CDT1):c.802C>T (p.Gln268Ter)	CDT1 (Q268*)	Single nucleotide variant (nonsense)	Meier-Gorlin syndrome 4	GLikely pathogenic
Select item 1173056	NM_030928.4(CDT1):c.1276-24A>G	CDT1	Single nucleotide variant (intron variant)	Meier-Gorlin syndrome 4	GPathogenic
Select item 1173055	NM_030928.4(CDT1):c.1078_1080del (p.Ala360del)	CDT1 (A360del)	Deletion (inframe_deletion)	Meier-Gorlin syndrome 4	GPathogenic
Select item 1029984	NM_030928.4(CDT1):c.1125G>A (p.Met375Ile)	CDT1 (M375I)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4	GUncertain significance
Select item 799874	NM_030928.4(CDT1):c.999G>A (p.Pro333=)	CDT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 790427	NM_030928.4(CDT1):c.248C>T (p.Pro83Leu)	CDT1 (P83L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 441024	NM_030928.4(CDT1):c.1154G>A (p.Arg385His)	CDT1 (R385H)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4	Gnot provided
Select item 434677	NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp)	CDT1 (R453W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 434673	NM_030928.4(CDT1):c.613G>A (p.Gly205Ser)	CDT1 (G205S)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 210649	NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)	CDT1 (P471A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 128683	NM_030928.4(CDT1):c.915T>C (p.His305=)	CDT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 128682	NM_030928.4(CDT1):c.784A>G (p.Thr262Ala)	CDT1 (T262A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 128680	NM_030928.4(CDT1):c.700T>C (p.Cys234Arg)	CDT1 (C234R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 128673	NM_030928.4(CDT1):c.1587C>G (p.Leu529=)	CDT1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 4 +2 more	GBenign
Select item 128664	NM_030928.4(CDT1):c.832+1G>A	CDT1	Single nucleotide variant (splice donor variant)	Meier-Gorlin syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 30502	NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys)	CDT1 (E468K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 30501	NM_030928.4(CDT1):c.196G>A (p.Ala66Thr)	CDT1 (A66T)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4	GPathogenic
Select item 30500	NM_030928.4(CDT1):c.351G>C (p.Gln117His)	CDT1 (Q117H)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4	GPathogenic
Select item 30499	NM_030928.4(CDT1):c.1560C>G (p.Tyr520Ter)	CDT1 (Y520*)	Single nucleotide variant (nonsense)	Meier-Gorlin syndrome 4	GPathogenic
Select item 30498	NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln)	CDT1 (R462Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 26