ClinVar for Gene (Select 54805) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354562	NM_017649.5(CNNM2):c.1904-6C>A	CNNM2	Single nucleotide variant (intron variant)	CNNM2-related disorder	GLikely benign
Select item 3346183	NM_017649.5(CNNM2):c.521A>T (p.Glu174Val)	CNNM2 (E174V)	Single nucleotide variant (missense variant)	CNNM2-related disorder	GUncertain significance
Select item 3342353	NM_017649.5(CNNM2):c.*150C>T	CNNM2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3339578	NM_017649.5(CNNM2):c.681G>T (p.Pro227=)	CNNM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3339323	NM_017649.5(CNNM2):c.510G>C (p.Ser170=)	CNNM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3339041	NM_017649.5(CNNM2):c.1936del (p.Glu646fs)	CNNM2 (E646fs)	Deletion (frameshift variant)	CNNM2-Related Disorders	GPathogenic
Select item 3337922	NM_017649.5(CNNM2):c.466G>C (p.Asp156His)	CNNM2, LOC130004628 (D156H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3301218	NM_001351169.2(NT5C2):c.1486G>C (p.Asp496His)	CNNM2, NT5C2 (D305H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268173	NM_017649.5(CNNM2):c.2489G>A (p.Ser830Asn)	CNNM2 (S808N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268172	NM_017649.5(CNNM2):c.868G>C (p.Val290Leu)	CNNM2 (V290L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268171	NM_017649.5(CNNM2):c.2296G>A (p.Asp766Asn)	CNNM2 (D744N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268170	NM_017649.5(CNNM2):c.637G>C (p.Gly213Arg)	CNNM2 (G213R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268169	NM_017649.5(CNNM2):c.2582C>T (p.Thr861Met)	CNNM2 (T839M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253165	NM_017649.5(CNNM2):c.763T>C (p.Phe255Leu)	CNNM2 (F255L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250665	NM_017649.5(CNNM2):c.2468A>G (p.Lys823Arg)	CNNM2 (K801R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3202493	NM_001351169.2(NT5C2):c.1591A>G (p.Ile531Val)	CNNM2, NT5C2 (I500V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3146554	NM_017649.5(CNNM2):c.865A>G (p.Ile289Val)	CNNM2 (I289V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146553	NM_017649.5(CNNM2):c.430G>A (p.Asp144Asn)	CNNM2, LOC130004628 (D144N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146552	NM_017649.5(CNNM2):c.2529T>G (p.His843Gln)	CNNM2 (H843Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146551	NM_017649.5(CNNM2):c.1586C>G (p.Thr529Ser)	CNNM2 (T529S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146550	NM_017649.5(CNNM2):c.1580A>G (p.Asn527Ser)	CNNM2 (N527S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146549	NM_017649.5(CNNM2):c.1155G>C (p.Met385Ile)	CNNM2 (M385I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063962	NM_017649.5(CNNM2):c.2019A>C (p.Glu673Asp)	CNNM2 (E673D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063788	NM_017649.5(CNNM2):c.415G>T (p.Ala139Ser)	CNNM2, LOC130004628 (A139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
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
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 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 3011347	NM_017649.5(CNNM2):c.1622-14T>G	CNNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990789	NM_017649.5(CNNM2):c.657G>A (p.Gly219=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987159	NM_017649.5(CNNM2):c.2073+8_2073+9delinsTT	CNNM2	Indel (intron variant)	not provided	GUncertain significance
Select item 2977568	NM_017649.5(CNNM2):c.258G>A (p.Ser86=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975359	NM_001351169.2(NT5C2):c.1668G>A (p.Glu556=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2973539	NM_017649.5(CNNM2):c.2039A>G (p.Asn680Ser)	CNNM2 (N680S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968216	NM_017649.5(CNNM2):c.1489G>A (p.Val497Ile)	CNNM2 (V497I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967685	NM_017649.5(CNNM2):c.1621+18_1621+19del	CNNM2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2960605	NM_017649.5(CNNM2):c.1597G>A (p.Ala533Thr)	CNNM2 (A533T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955714	NM_017649.5(CNNM2):c.2036G>A (p.Arg679His)	CNNM2 (R679H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914369	NM_017649.5(CNNM2):c.1557C>T (p.Asn519=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909399	NM_017649.5(CNNM2):c.95G>T (p.Ser32Ile)	CNNM2 (S32I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2909357	NM_017649.5(CNNM2):c.2496C>T (p.Asn832=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908390	NM_017649.5(CNNM2):c.1074C>T (p.Ile358=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906884	NM_017649.5(CNNM2):c.134C>A (p.Ala45Glu)	CNNM2 (A45E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902214	NM_001351169.2(NT5C2):c.1473G>A (p.Glu491=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2898577	NM_017649.5(CNNM2):c.890A>G (p.Lys297Arg)	CNNM2 (K297R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889460	NM_017649.5(CNNM2):c.478T>A (p.Leu160Met)	CNNM2, LOC130004628 (L160M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864063	NM_017649.5(CNNM2):c.12T>A (p.Cys4Ter)	CNNM2 (C4*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2841436	NM_017649.5(CNNM2):c.420G>A (p.Pro140=)	CNNM2, LOC130004628	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832152	NM_017649.5(CNNM2):c.2419-5C>T	CNNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824049	NM_017649.5(CNNM2):c.1159T>C (p.Phe387Leu)	CNNM2 (F387L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819446	NM_017649.5(CNNM2):c.603C>T (p.Gly201=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798171	NM_017649.5(CNNM2):c.429G>T (p.Pro143=)	CNNM2, LOC130004628	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797579	NM_017649.5(CNNM2):c.1622-14T>C	CNNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792323	NM_017649.5(CNNM2):c.2186G>A (p.Arg729His)	CNNM2 (R729H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2786562	NM_017649.5(CNNM2):c.459C>T (p.Arg153=)	CNNM2, LOC130004628	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786216	NM_017649.5(CNNM2):c.829C>T (p.Leu277=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771586	NM_017649.5(CNNM2):c.2074-10C>T	CNNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759398	NM_017649.5(CNNM2):c.1961A>G (p.Lys654Arg)	CNNM2 (K654R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726329	NM_017649.5(CNNM2):c.370G>A (p.Glu124Lys)	CNNM2 (E124K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691555	NM_017649.5(CNNM2):c.2299C>T (p.Arg767Trp)	CNNM2 (R745W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640800	NM_017649.5(CNNM2):c.2371A>G (p.Ile791Val)	CNNM2 (I769V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640799	NM_017649.5(CNNM2):c.1621+7245A>G	CNNM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2640798	NM_017649.5(CNNM2):c.1359C>A (p.Leu453=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640797	NM_017649.5(CNNM2):c.678C>T (p.Pro226=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2633481	NM_017649.5(CNNM2):c.112C>T (p.Arg38Trp)	CNNM2 (R38W)	Single nucleotide variant (missense variant)	CNNM2-related disorder	GUncertain significance
Select item 2610471	NM_017649.5(CNNM2):c.332A>G (p.Asn111Ser)	CNNM2 (N111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2581787	NM_017649.5(CNNM2):c.980A>G (p.Asn327Ser)	CNNM2 (N327S)	Single nucleotide variant (missense variant)	not provided	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 2579386	NM_017649.5(CNNM2):c.2390G>A (p.Arg797Gln)	CNNM2 (R775Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578376	NM_017649.5(CNNM2):c.2384C>A (p.Ser795Ter)	CNNM2 (S773* +1 more)	Single nucleotide variant (nonsense)	Renal hypomagnesemia 6	GPathogenic
Select item 2578375	NM_017649.5(CNNM2):c.1310G>A (p.Gly437Glu)	CNNM2 (G437E)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	GPathogenic
Select item 2578374	NM_017649.5(CNNM2):c.1291G>A (p.Glu431Lys)	CNNM2 (E431K)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	GPathogenic
Select item 2578373	NM_017649.5(CNNM2):c.1003G>A (p.Asp335Asn)	CNNM2 (D335N)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	GLikely pathogenic
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 2578153	NM_017649.5(CNNM2):c.1285_1287del (p.Lys429del)	CNNM2 (K429del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2576956	NM_017649.5(CNNM2):c.814T>G (p.Phe272Val)	CNNM2 (F272V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575702	NM_017649.5(CNNM2):c.2354C>T (p.Ser785Leu)	CNNM2 (S763L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2573763	NM_017649.5(CNNM2):c.1157C>G (p.Thr386Ser)	CNNM2 (T386S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571689	NM_017649.5(CNNM2):c.1079C>T (p.Pro360Leu)	CNNM2 (P360L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554682	NM_017649.5(CNNM2):c.626G>A (p.Gly209Asp)	CNNM2 (G209D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539320	NM_017649.5(CNNM2):c.2264G>T (p.Gly755Val)	CNNM2 (G733V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503151	NM_017649.5(CNNM2):c.2603G>A (p.Ser868Asn)	CNNM2 (S846N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502051	NM_017649.5(CNNM2):c.851C>G (p.Pro284Arg)	CNNM2 (P284R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501396	NM_017649.5(CNNM2):c.968A>G (p.Asn323Ser)	CNNM2 (N323S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2483757	NM_017649.5(CNNM2):c.1970A>G (p.Asn657Ser)	CNNM2 (N657S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2463656	NM_017649.5(CNNM2):c.2035C>T (p.Arg679Cys)	CNNM2 (R679C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446139	NM_017649.5(CNNM2):c.1025T>C (p.Leu342Pro)	CNNM2 (L342P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440164	NM_017649.5(CNNM2):c.631_651del (p.Ala211_Gly217del)	CNNM2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2440163	NM_017649.5(CNNM2):c.1001T>G (p.Leu334Arg)	CNNM2 (L334R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440162	NM_017649.5(CNNM2):c.1566G>C (p.Leu522Phe)	CNNM2 (L522F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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