Related gene-specific medical variations for Gene (Select 54805) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362754	NM_017649.5(CNNM2):c.1457G>A (p.Gly486Glu)	CNNM2 (G486E)	Single nucleotide variant (missense variant)	Hypomagnesemia, seizures, and intellectual disability 1	GUncertain significance
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 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 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 3063788	NM_017649.5(CNNM2):c.415G>T (p.Ala139Ser)	CNNM2, LOC130004628 (A139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2889460	NM_017649.5(CNNM2):c.478T>A (p.Leu160Met)	CNNM2, LOC130004628 (L160M)	Single nucleotide variant (missense variant)	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 2798171	NM_017649.5(CNNM2):c.429G>T (p.Pro143=)	CNNM2, LOC130004628	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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
Select item 2440161	NM_017649.5(CNNM2):c.744G>A (p.Glu248=)	CNNM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2399338	NM_001351169.2(NT5C2):c.1559A>G (p.Lys520Arg)	CNNM2, NT5C2 (K329R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2201598	NM_001351169.2(NT5C2):c.1619C>T (p.Ala540Val)	CNNM2, NT5C2 (A302V +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	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 2130092	NM_001351169.2(NT5C2):c.1450-16G>C	CNNM2, NT5C2	Single nucleotide variant (intron variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
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 2103637	NM_017649.5(CNNM2):c.440C>T (p.Pro147Leu)	CNNM2, LOC130004628 (P147L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099173	NM_001351169.2(NT5C2):c.1626G>A (p.Gln542=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2062772	NM_001351169.2(NT5C2):c.1665GGA[7] (p.Glu561_Ter562insGluGlu)	CNNM2, NT5C2	Microsatellite (inframe_insertion +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 2057285	NM_001351169.2(NT5C2):c.1572G>A (p.Leu524=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 2039244	NM_001351169.2(NT5C2):c.1529C>T (p.Thr510Ile)	CNNM2, NT5C2 (T272I +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	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 1957036	NM_001351169.2(NT5C2):c.1618G>A (p.Ala540Thr)	CNNM2, NT5C2 (A509T +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 1947791	NM_001351169.2(NT5C2):c.1582A>G (p.Ile528Val)	CNNM2, NT5C2 (I499V +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 1946779	NM_001351169.2(NT5C2):c.1678GAA[3] (p.Glu561_Ter562insGlu)	CNNM2, NT5C2	Microsatellite (inframe_insertion +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
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 1696568	NM_017649.5(CNNM2):c.522dup (p.Ile175fs)	CNNM2 (I175fs)	Duplication (frameshift variant)	Hypomagnesemia, seizures, and intellectual disability 1	GLikely pathogenic
Select item 1685993	NM_001351169.2(NT5C2):c.1624del (p.Gln542fs)	CNNM2, NT5C2 (Q304fs +5 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 45	GPathogenic
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 1371578	NM_001351169.2(NT5C2):c.1665GGA[6] (p.Glu561_Ter562insGlu)	CNNM2, NT5C2	Microsatellite (inframe_insertion +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 1344442	NM_001351169.2(NT5C2):c.1564C>T (p.His522Tyr)	CNNM2, NT5C2 (H284Y +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1344441	NM_001351169.2(NT5C2):c.1562G>A (p.Arg521Gln)	CNNM2, NT5C2 (R283Q +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1178021	NM_001351169.2(NT5C2):c.*285T>G	CNNM2, NT5C2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1168446	NM_001351169.2(NT5C2):c.*313C>G	CNNM2, NT5C2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 1127498	NM_001351169.2(NT5C2):c.1482C>T (p.His494=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1089459	NM_001351169.2(NT5C2):c.1674G>A (p.Glu558=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1083507	NM_001351169.2(NT5C2):c.1450-8C>G	CNNM2, NT5C2	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 1025816	NM_001351169.2(NT5C2):c.1665GGA[4] (p.Glu561del)	CNNM2, NT5C2 (E323del +5 more)	Microsatellite (inframe_indel +2 more)	Hereditary spastic paraplegia 45 +1 more	GConflicting classifications of pathogenicity
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 959340	NM_001351169.2(NT5C2):c.1662_1664del (p.Glu561del)	CNNM2, NT5C2 (E370del +5 more)	Deletion (inframe_deletion +2 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 931077	NM_017649.5(CNNM2):c.1621+21dup	CNNM2	Duplication (intron variant)	Renal hypomagnesemia 6	GUncertain significance
Select item 930941	NM_017649.5(CNNM2):c.2125G>T (p.Ala709Ser)	CNNM2 (A709S)	Single nucleotide variant (missense variant)	Renal hypomagnesemia 6	GUncertain significance
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 871141	NM_017649.5(CNNM2):c.206A>G (p.Asn69Ser)	CNNM2 (N69S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 864795	NM_001351169.2(NT5C2):c.1528A>C (p.Thr510Pro)	CNNM2, NT5C2 (T479P +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45 +1 more	GUncertain significance
Select item 784766	NM_001351169.2(NT5C2):c.1685A>G (p.Ter562=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	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 729415	NM_017649.5(CNNM2):c.413C>T (p.Pro138Leu)	CNNM2, LOC130004628 (P138L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724043	NM_001351169.2(NT5C2):c.1644T>C (p.His548=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 658793	NM_001351169.2(NT5C2):c.1467G>A (p.Thr489=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 591852	NM_017649.5(CNNM2):c.2171del (p.Pro724fs)	CNNM2 (P724fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 541768	NM_001351169.2(NT5C2):c.1662_1667del (p.Glu560_Glu561del)	CNNM2, NT5C2	Deletion (inframe_indel +2 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 541766	NM_001351169.2(NT5C2):c.1665G>T (p.Glu555Asp)	CNNM2, NT5C2 (E555D +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 45	GUncertain significance
Select item 474945	NM_001351169.2(NT5C2):c.1665GGA[3] (p.Glu560_Glu561del)	CNNM2, NT5C2	Microsatellite (inframe_indel +2 more)	Hereditary spastic paraplegia 45 +1 more	GUncertain significance
Select item 474944	NM_001351169.2(NT5C2):c.1671G>A (p.Glu557=)	NT5C2, CNNM2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45 +1 more	GLikely benign
Select item 474943	NM_001351169.2(NT5C2):c.1662A>G (p.Glu554=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 45	GLikely benign
Select item 380852	NM_001351169.2(NT5C2):c.1647C>T (p.Asp549=)	CNNM2, NT5C2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign

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Items: 71