ClinVar for MedGen (Select 906582) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584933	NM_017649.5(CNNM2):c.569A>C (p.Tyr190Ser)	CNNM2 (Y190S)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GUncertain significance
Select item 2580999	NM_017649.5(CNNM2):c.488T>C (p.Ile163Thr)	CNNM2, LOC130004628 (I163T)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GUncertain significance
Select item 2578372	NM_017649.5(CNNM2):c.970G>C (p.Val324Leu)	CNNM2 (V324L)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic
Select item 2578371	NM_017649.5(CNNM2):c.778A>T (p.Ile260Phe)	CNNM2 (I260F)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GLikely benign
Select item 2578370	NM_017649.5(CNNM2):c.557G>C (p.Ser186Thr)	CNNM2 (S186T)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GLikely benign
Select item 2578369	NM_017649.5(CNNM2):c.551A>G (p.Glu184Gly)	CNNM2 (E184G)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GLikely benign
Select item 2578368	NM_017649.5(CNNM2):c.274G>C (p.Ala92Pro)	CNNM2 (A92P)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic
Select item 1709797	NM_017649.5(CNNM2):c.992C>T (p.Thr331Ile)	CNNM2 (T331I)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GLikely pathogenic
Select item 1701721	NM_017649.5(CNNM2):c.1622-56334_1622-56333del	CNNM2	Deletion (intron variant)	Hypomagnesemia, seizures, and intellectual disability 1	GUncertain significance
Select item 1696738	NM_017649.5(CNNM2):c.2059G>A (p.Val687Ile)	CNNM2 (V687I)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GUncertain significance
Select item 1696568	NM_017649.5(CNNM2):c.522dup (p.Ile175fs)	CNNM2 (I175fs)	Duplication (frameshift variant)	Hypomagnesemia, seizures, and intellectual disability 1	GLikely pathogenic
Select item 1672716	NM_017649.5(CNNM2):c.2233+17C>T	CNNM2	Single nucleotide variant (intron variant)	Renal hypomagnesemia 6 +2 more	GBenign/Likely benign
Select item 1627843	NM_017649.5(CNNM2):c.1765+11T>C	CNNM2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1487188	NM_017649.5(CNNM2):c.237G>A (p.Leu79=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1430577	NM_017649.5(CNNM2):c.47G>A (p.Gly16Glu)	CNNM2 (G16E)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6 +2 more	GUncertain significance
Select item 1375331	NM_017649.5(CNNM2):c.118A>G (p.Ile40Val)	CNNM2 (I40V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1342906	NM_017649.5(CNNM2):c.312_315dup (p.Tyr106fs)	CNNM2 (Y106fs)	Duplication (frameshift variant)	Hypomagnesemia, seizures, and intellectual disability 1	GLikely pathogenic
Select item 1299852	NM_017649.5(CNNM2):c.804G>T (p.Leu268=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1217370	NM_017649.5(CNNM2):c.2418+20T>C	CNNM2	Single nucleotide variant (intron variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GBenign
Select item 1098410	NM_017649.5(CNNM2):c.1804C>T (p.Arg602Ter)	CNNM2 (R602*)	Single nucleotide variant (nonsense)	Renal hypomagnesemia 6 +2 more	GLikely pathogenic
Select item 996057	NM_017649.5(CNNM2):c.1094C>T (p.Ser365Phe)	CNNM2 (S365F)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GBenign
Select item 996056	NM_017649.5(CNNM2):c.1016G>A (p.Gly339Asp)	CNNM2 (G339D)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GUncertain significance
Select item 996055	NM_017649.5(CNNM2):c.2389C>T (p.Arg797Ter)	CNNM2 (R775* +1 more)	Single nucleotide variant (nonsense)	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic
Select item 996054	NM_017649.5(CNNM2):c.2384C>T (p.Ser795Leu)	CNNM2 (S773L +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic
Select item 996053	NM_017649.5(CNNM2):c.1842_1844del (p.Ser614_Glu615delinsArg)	CNNM2	Deletion (inframe_indel)	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic
Select item 996052	NC_000010.10:g.(?_104678237)_(104816721_?)del	CNNM2	Deletion	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic
Select item 996045	NM_017649.5(CNNM2):c.1253T>C (p.Leu418Pro)	CNNM2 (L418P)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic
Select item 996044	NM_017649.5(CNNM2):c.970G>A (p.Val324Met)	CNNM2 (V324M)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic
Select item 996043	NM_017649.5(CNNM2):c.955CTG[2] (p.Leu321del)	CNNM2 (L321del)	Microsatellite (inframe_deletion)	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic
Select item 996042	NM_017649.5(CNNM2):c.942C>G (p.Tyr314Ter)	CNNM2 (Y314*)	Single nucleotide variant (nonsense)	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic
Select item 996041	NM_017649.5(CNNM2):c.143T>C (p.Leu48Pro)	CNNM2 (L48P)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic
Select item 916391	NM_017649.5(CNNM2):c.2336A>G (p.Asn779Ser)	CNNM2 (N757S +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GUncertain significance
Select item 802633	NM_017649.5(CNNM2):c.2240A>G (p.Asn747Ser)	CNNM2 (N725S +1 more)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1 +1 more	GConflicting classifications of pathogenicity
Select item 746924	NM_017649.5(CNNM2):c.360C>T (p.Phe120=)	CNNM2	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GBenign/Likely benign
Select item 746700	NM_017649.5(CNNM2):c.2322A>G (p.Thr774=)	CNNM2	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GLikely benign
Select item 740699	NM_017649.5(CNNM2):c.903C>T (p.Tyr301=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6 +2 more	GBenign/Likely benign
Select item 732511	NM_017649.5(CNNM2):c.2073+8G>T	CNNM2	Single nucleotide variant (intron variant)	Renal hypomagnesemia 6 +2 more	GLikely benign
Select item 722958	NM_017649.5(CNNM2):c.2565C>T (p.Asn855=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 392723	NM_017649.5(CNNM2):c.2318C>T (p.Pro773Leu)	CNNM2 (P773L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 298647	NM_017649.5(CNNM2):c.2073+14T>C	CNNM2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 298646	NM_017649.5(CNNM2):c.2012C>T (p.Ala671Val)	CNNM2 (A671V)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6 +2 more	GUncertain significance
Select item 298645	NM_017649.5(CNNM2):c.1842T>C (p.Ser614=)	CNNM2	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GBenign
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 298637	NM_017649.5(CNNM2):c.342G>T (p.Thr114=)	CNNM2	Single nucleotide variant (synonymous variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GBenign/Likely benign
Select item 192325	NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp)	CNNM2 (S269W)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GLikely pathogenic
Select item 192324	NM_017649.5(CNNM2):c.1069G>A (p.Glu357Lys)	CNNM2 (E357K)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic
Select item 192323	NM_017649.5(CNNM2):c.364G>A (p.Glu122Lys)	CNNM2 (E122K)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GPathogenic

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Links from MedGen

Items: 47