54805[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 149001	GRCh38/hg38 10q24.32-24.33(chr10:102710547-103110626)x1	ARL3, AS3MT +20 more	Copy number loss	See cases	GUncertain significance
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 1279865	NC_000010.11:g.102918130A>C	CNNM2, LOC107984265	Single nucleotide variant	not provided	GBenign
Select item 298632	NM_017649.5(CNNM2):c.-110A>T	CNNM2	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 6	GBenign
Select item 298633	NM_017649.5(CNNM2):c.-65G>A	CNNM2	Single nucleotide variant (5 prime UTR variant)	Renal hypomagnesemia 6	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 2096566	NM_017649.5(CNNM2):c.15C>T (p.Gly5=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675434	NM_017649.5(CNNM2):c.28A>G (p.Lys10Glu)	CNNM2 (K10E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430577	NM_017649.5(CNNM2):c.47G>A (p.Gly16Glu)	CNNM2 (G16E)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1 +2 more	GUncertain significance
Select item 298634	NM_017649.5(CNNM2):c.49C>G (p.Gln17Glu)	CNNM2 (Q17E)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 2178214	NM_017649.5(CNNM2):c.88C>T (p.Arg30Cys)	CNNM2 (R30C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 757526	NM_017649.5(CNNM2):c.90C>T (p.Arg30=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6 +1 more	GBenign
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 1912813	NM_017649.5(CNNM2):c.100A>T (p.Ser34Cys)	CNNM2 (S34C)	Single nucleotide variant (missense variant)	not provided	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 298635	NM_017649.5(CNNM2):c.113G>A (p.Arg38Gln)	CNNM2 (R38Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 30683	NM_017649.5(CNNM2):c.117del (p.Ile40fs)	CNNM2 (I40fs)	Deletion (frameshift variant)	Renal hypomagnesemia 6	GPathogenic
Select item 1918583	NM_017649.5(CNNM2):c.115G>A (p.Gly39Arg)	CNNM2 (G39R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 1536780	NM_017649.5(CNNM2):c.120C>T (p.Ile40=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 817123	NM_017649.5(CNNM2):c.135_145del (p.Gly46fs)	CNNM2 (G46fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2333986	NM_017649.5(CNNM2):c.133G>T (p.Ala45Ser)	CNNM2 (A45S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2076811	NM_017649.5(CNNM2):c.138G>A (p.Gly46=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1952254	NM_017649.5(CNNM2):c.164G>A (p.Ser55Asn)	CNNM2 (S55N)	Single nucleotide variant (missense variant)	not provided	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 871141	NM_017649.5(CNNM2):c.206A>G (p.Asn69Ser)	CNNM2 (N69S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 298636	NM_017649.5(CNNM2):c.210G>A (p.Glu70=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 1487188	NM_017649.5(CNNM2):c.237G>A (p.Leu79=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6 +2 more	GConflicting classifications of pathogenicity
Select item 752654	NM_017649.5(CNNM2):c.240G>A (p.Glu80=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977568	NM_017649.5(CNNM2):c.258G>A (p.Ser86=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935976	NM_017649.5(CNNM2):c.273G>A (p.Gly91=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598960	NM_017649.5(CNNM2):c.273G>T (p.Gly91=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2116252	NM_017649.5(CNNM2):c.285G>C (p.Val95=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 878022	NM_017649.5(CNNM2):c.296C>G (p.Thr99Ser)	CNNM2 (T99S)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	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 2610471	NM_017649.5(CNNM2):c.332A>G (p.Asn111Ser)	CNNM2 (N111S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 762299	NM_017649.5(CNNM2):c.336C>T (p.Asn112=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 298637	NM_017649.5(CNNM2):c.342G>T (p.Thr114=)	CNNM2	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6 +2 more	GBenign/Likely benign
Select item 3370046	NM_017649.5(CNNM2):c.352A>T (p.Ile118Phe)	CNNM2 (I118F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746924	NM_017649.5(CNNM2):c.360C>T (p.Phe120=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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
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 735021	NM_017649.5(CNNM2):c.390G>C (p.Pro130=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 878023	NM_017649.5(CNNM2):c.411C>G (p.Gly137=)	CNNM2, LOC130004628	Single nucleotide variant (synonymous variant)	Renal hypomagnesemia 6	GBenign
Select item 729415	NM_017649.5(CNNM2):c.413C>T (p.Pro138Leu)	CNNM2, LOC130004628 (P138L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 738246	NM_017649.5(CNNM2):c.414C>T (p.Pro138=)	CNNM2, LOC130004628	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2841436	NM_017649.5(CNNM2):c.420G>A (p.Pro140=)	CNNM2, LOC130004628	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 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 2194751	NM_017649.5(CNNM2):c.433A>G (p.Ser145Gly)	CNNM2, LOC130004628 (S145G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2103637	NM_017649.5(CNNM2):c.440C>T (p.Pro147Leu)	CNNM2, LOC130004628 (P147L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549522	NM_017649.5(CNNM2):c.450C>T (p.Cys150=)	CNNM2, LOC130004628	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2125697	NM_017649.5(CNNM2):c.456C>G (p.Ile152Met)	CNNM2, LOC130004628 (I152M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2282659	NM_017649.5(CNNM2):c.458G>A (p.Arg153His)	CNNM2, LOC130004628 (R153H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3337922	NM_017649.5(CNNM2):c.466G>C (p.Asp156His)	CNNM2, LOC130004628 (D156H)	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 1982865	NM_017649.5(CNNM2):c.483C>T (p.Pro161=)	CNNM2, LOC130004628	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3339323	NM_017649.5(CNNM2):c.510G>C (p.Ser170=)	CNNM2	Single nucleotide variant (synonymous variant)	not specified	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 1696568	NM_017649.5(CNNM2):c.522dup (p.Ile175fs)	CNNM2 (I175fs)	Duplication (frameshift variant)	Hypomagnesemia, seizures, and intellectual disability 1	GLikely pathogenic
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 2280117	NM_017649.5(CNNM2):c.554A>G (p.Lys185Arg)	CNNM2 (K185R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 298638	NM_017649.5(CNNM2):c.564C>T (p.Ser188=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 2427848	NM_017649.5(CNNM2):c.594C>A (p.Pro198=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1684899	NM_017649.5(CNNM2):c.595G>A (p.Ala199Thr)	CNNM2 (A199T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 742368	NM_017649.5(CNNM2):c.600G>T (p.Leu200=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819446	NM_017649.5(CNNM2):c.603C>T (p.Gly201=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 298639	NM_017649.5(CNNM2):c.604G>A (p.Ala202Thr)	CNNM2 (A202T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1592632	NM_017649.5(CNNM2):c.609C>G (p.Gly203=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1306799	NM_017649.5(CNNM2):c.612del (p.Ser205fs)	CNNM2 (S205fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 806561	NM_017649.5(CNNM2):c.614C>T (p.Ser205Leu)	CNNM2 (S205L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 878024	NM_017649.5(CNNM2):c.621C>T (p.Ser207=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2440164	NM_017649.5(CNNM2):c.631_651del (p.Ala211_Gly217del)	CNNM2	Deletion (inframe_deletion)	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 2017150	NM_017649.5(CNNM2):c.626G>C (p.Gly209Ala)	CNNM2 (G209A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956059	NM_017649.5(CNNM2):c.630C>T (p.Gly210=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2114484	NM_017649.5(CNNM2):c.655G>T (p.Gly219Trp)	CNNM2 (G219W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990789	NM_017649.5(CNNM2):c.657G>A (p.Gly219=)	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 1477284	NM_017649.5(CNNM2):c.680C>G (p.Pro227Arg)	CNNM2 (P227R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339578	NM_017649.5(CNNM2):c.681G>T (p.Pro227=)	CNNM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2440161	NM_017649.5(CNNM2):c.744G>A (p.Glu248=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 733225	NM_017649.5(CNNM2):c.753C>T (p.Phe251=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931059	NM_017649.5(CNNM2):c.757C>T (p.Leu253=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1800548	NM_017649.5(CNNM2):c.760C>G (p.Pro254Ala)	CNNM2 (P254A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990316	NM_017649.5(CNNM2):c.762C>T (p.Pro254=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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