"PreventionGenetics, part of Exact Sciences"[submitter] AND "CLDN1"[ge - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052181	NM_021101.5(CLDN1):c.*7G>A	CLDN1, CLDN16	Single nucleotide variant (3 prime UTR variant +1 more)	CLDN1-related disorder	GLikely benign
Select item 3031580	NM_021101.5(CLDN1):c.512C>G (p.Ala171Gly)	CLDN1, CLDN16 (A171G)	Single nucleotide variant (missense variant +1 more)	CLDN1-related disorder	GLikely benign
Select item 3061649	NM_021101.5(CLDN1):c.408C>T (p.Ala136=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related disorder	GLikely benign
Select item 261404	NM_021101.5(CLDN1):c.370G>A (p.Ala124Thr)	CLDN1, CLDN16 (A124T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 195367	NM_021101.5(CLDN1):c.369T>C (p.Gly123=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3054812	NM_021101.5(CLDN1):c.304A>C (p.Met102Leu)	CLDN1, CLDN16 (M102L)	Single nucleotide variant (missense variant +1 more)	CLDN1-related disorder	GUncertain significance
Select item 594563	NM_021101.5(CLDN1):c.298G>A (p.Val100Ile)	CLDN1, CLDN16 (V100I)	Single nucleotide variant (missense variant)	CLDN1-related disorder +1 more	GUncertain significance
Select item 3061117	NM_021101.5(CLDN1):c.281C>A (p.Ala94Glu)	CLDN1, CLDN16 (A94E)	Single nucleotide variant (missense variant +1 more)	CLDN1-related disorder	GUncertain significance
Select item 2636080	NM_021101.5(CLDN1):c.263T>A (p.Ile88Asn)	CLDN1, CLDN16 (I88N)	Single nucleotide variant (missense variant +1 more)	CLDN1-related disorder	GUncertain significance
Select item 289199	NM_021101.5(CLDN1):c.195A>G (p.Lys65=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	CLDN1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3045825	NM_021101.5(CLDN1):c.188A>G (p.Gln63Arg)	CLDN1, CLDN16 (Q63R)	Single nucleotide variant (missense variant +1 more)	CLDN1-related disorder	GUncertain significance
Select item 261402	NM_021101.5(CLDN1):c.108C>T (p.Ala36=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3030209	NM_021101.5(CLDN1):c.105T>C (p.Tyr35=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related disorder	GLikely benign
Select item 2910791	NM_021101.5(CLDN1):c.60C>T (p.Gly20=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related disorder +1 more	GLikely benign
Select item 288149	NM_021101.5(CLDN1):c.41C>T (p.Ala14Val)	CLDN1, CLDN16 (A14V)	Single nucleotide variant (missense variant)	CLDN1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3051909	NM_021101.5(CLDN1):c.18G>C (p.Leu6=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant +1 more)	CLDN1-related disorder	GLikely benign
Select item 261403	NM_021101.5(CLDN1):c.15G>A (p.Gly5=)	CLDN1, CLDN16	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 261401	NM_021101.5(CLDN1):c.-13G>C	CLDN1, CLDN16	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign