Related gene-specific medical variations for Gene (Select 9075) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154704	NM_138382.3(RIPPLY1):c.412G>A (p.Glu138Lys)	CLDN2, RIPPLY1 (E138K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154703	NM_138382.3(RIPPLY1):c.263C>A (p.Thr88Asn)	CLDN2, RIPPLY1 (T88N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154702	NM_138382.3(RIPPLY1):c.110C>A (p.Pro37Gln)	CLDN2, RIPPLY1 (P37Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052211	NM_138382.3(RIPPLY1):c.331C>T (p.Leu111=)	CLDN2, RIPPLY1	Single nucleotide variant (synonymous variant +1 more)	RIPPLY1-related disorder	GLikely benign
Select item 3045265	NM_138382.3(RIPPLY1):c.188C>A (p.Ser63Tyr)	CLDN2, RIPPLY1 (S63Y)	Single nucleotide variant (missense variant +1 more)	RIPPLY1-related disorder	GLikely benign
Select item 2597916	NM_138382.3(RIPPLY1):c.316C>T (p.Arg106Cys)	CLDN2, RIPPLY1 (R106C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552661	NM_138382.3(RIPPLY1):c.268G>A (p.Ala90Thr)	CLDN2, RIPPLY1 (A90T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548929	NM_138382.3(RIPPLY1):c.285T>A (p.His95Gln)	CLDN2, RIPPLY1 (H95Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511545	NM_138382.3(RIPPLY1):c.94C>A (p.Pro32Thr)	CLDN2, RIPPLY1 (P32T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397264	NM_138382.3(RIPPLY1):c.7T>C (p.Ser3Pro)	CLDN2, RIPPLY1 (S3P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2312634	NM_138382.3(RIPPLY1):c.308C>T (p.Pro103Leu)	CLDN2, RIPPLY1 (P103L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226769	NM_138382.3(RIPPLY1):c.440A>T (p.Asp147Val)	CLDN2, RIPPLY1 (D100V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 993633	NM_138382.3(RIPPLY1):c.256G>A (p.Glu86Lys)	CLDN2, RIPPLY1 (E86K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 786709	NM_138382.3(RIPPLY1):c.393C>T (p.Tyr131=)	CLDN2, RIPPLY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780717	NM_138382.3(RIPPLY1):c.249G>A (p.Thr83=)	CLDN2, RIPPLY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780716	NM_138382.3(RIPPLY1):c.269C>T (p.Ala90Val)	CLDN2, RIPPLY1 (A90V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 725965	NM_138382.3(RIPPLY1):c.362A>G (p.Asn121Ser)	CLDN2, RIPPLY1 (N74S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 64496	NM_020384.4(CLDN2):c.522C>T (p.Ser174=)	CLDN2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64495	NM_020384.4(CLDN2):c.193G>C (p.Asp65His)	CLDN2 (D65H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance