"PreventionGenetics, part of Exact Sciences"[submitter] AND "CDT1"[gen - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128675	NM_030928.4(CDT1):c.243T>C (p.Ser81=)	CDT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 128678	NM_030928.4(CDT1):c.514C>T (p.Arg172Cys)	CDT1 (R172C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2885393	NM_030928.4(CDT1):c.546G>A (p.Pro182=)	CDT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 128679	NM_030928.4(CDT1):c.549A>G (p.Gly183=)	CDT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 434673	NM_030928.4(CDT1):c.613G>A (p.Gly205Ser)	CDT1 (G205S)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 4 +3 more	GConflicting classifications of pathogenicity
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 1442903	NM_030928.4(CDT1):c.732G>A (p.Pro244=)	CDT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 434675	NM_030928.4(CDT1):c.758G>A (p.Arg253His)	CDT1 (R253H)	Single nucleotide variant (missense variant)	CDT1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 128682	NM_030928.4(CDT1):c.784A>G (p.Thr262Ala)	CDT1 (T262A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 128665	NM_030928.4(CDT1):c.900G>C (p.Gln300His)	CDT1 (Q300H)	Single nucleotide variant (missense variant)	CDT1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 128683	NM_030928.4(CDT1):c.915T>C (p.His305=)	CDT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1405107	NM_030928.4(CDT1):c.933+3G>A	CDT1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 261939	NM_030928.4(CDT1):c.933+13C>T	CDT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 735331	NM_030928.4(CDT1):c.1023C>T (p.Pro341=)	CDT1	Single nucleotide variant (synonymous variant)	CDT1-related disorder +1 more	GLikely benign
Select item 3053568	NM_030928.4(CDT1):c.1107C>T (p.Asn369=)	CDT1	Single nucleotide variant (synonymous variant)	CDT1-related disorder	GLikely benign
Select item 760732	NM_030928.4(CDT1):c.1123-4G>A	CDT1	Single nucleotide variant (intron variant)	CDT1-related disorder +1 more	GBenign
Select item 747844	NM_030928.4(CDT1):c.1206C>T (p.Thr402=)	CDT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 128661	NM_030928.4(CDT1):c.1221G>A (p.Pro407=)	CDT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3042174	NM_030928.4(CDT1):c.1276-7G>T	CDT1	Single nucleotide variant (intron variant)	CDT1-related disorder	GLikely benign
Select item 128669	NM_030928.4(CDT1):c.1377C>T (p.Arg459=)	CDT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 210649	NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)	CDT1 (P471A)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 128670	NM_030928.4(CDT1):c.1500G>T (p.Leu500=)	CDT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 724365	NM_030928.4(CDT1):c.1507T>G (p.Ser503Ala)	CDT1 (S503A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 128673	NM_030928.4(CDT1):c.1587C>G (p.Leu529=)	CDT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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Items: 24