"PreventionGenetics, part of Exact Sciences"[submitter] AND "CNNM2"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633481	NM_017649.5(CNNM2):c.112C>T (p.Arg38Trp)	CNNM2 (R38W)	Single nucleotide variant (missense variant)	CNNM2-related disorder	GUncertain significance
Select item 3052157	NM_017649.5(CNNM2):c.195G>A (p.Ala65=)	CNNM2	Single nucleotide variant (synonymous variant)	CNNM2-related disorder	GLikely benign
Select item 298638	NM_017649.5(CNNM2):c.564C>T (p.Ser188=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6 +2 more	GBenign/Likely benign
Select item 298639	NM_017649.5(CNNM2):c.604G>A (p.Ala202Thr)	CNNM2 (A202T)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6 +3 more	GBenign/Likely benign
Select item 2636953	NM_017649.5(CNNM2):c.818G>T (p.Ser273Ile)	CNNM2 (S273I)	Single nucleotide variant (missense variant)	CNNM2-related disorder	GUncertain significance
Select item 298641	NM_017649.5(CNNM2):c.1134C>T (p.Leu378=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1921056	NM_017649.5(CNNM2):c.1485G>A (p.Leu495=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 298643	NM_017649.5(CNNM2):c.1622-6C>T	CNNM2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3048582	NM_017649.5(CNNM2):c.1888del (p.Arg630fs)	CNNM2 (R630fs)	Deletion (frameshift variant)	CNNM2-related disorder	GUncertain significance
Select item 3033582	NM_017649.5(CNNM2):c.2403T>C (p.Asp801=)	CNNM2	Single nucleotide variant (synonymous variant)	CNNM2-related disorder	GLikely benign
Select item 3053974	NM_001351169.2(NT5C2):c.1536G>A (p.Val512=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	NT5C2-related disorder	GLikely benign