ClinVar for Gene (Select 23263) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3124251	NM_001112732.3(MCF2L):c.761A>G (p.Asp254Gly)	MCF2L (D252G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124249	NM_001112732.3(MCF2L):c.700G>T (p.Val234Phe)	MCF2L (V196F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124248	NM_001112732.3(MCF2L):c.612C>G (p.Ile204Met)	MCF2L (I166M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124247	NM_001112732.3(MCF2L):c.448G>A (p.Ala150Thr)	MCF2L (A150T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124246	NM_001112732.3(MCF2L):c.397G>A (p.Val133Ile)	MCF2L (V104I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124245	NM_001112732.3(MCF2L):c.359T>A (p.Leu120Gln)	MCF2L (L124Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124244	NM_001112732.3(MCF2L):c.3169G>C (p.Glu1057Gln)	MCF2L (E1019Q +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124243	NM_001112732.3(MCF2L):c.3134G>A (p.Arg1045His)	MCF2L (R1043H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124242	NM_001112732.3(MCF2L):c.2911G>T (p.Val971Phe)	MCF2L (V975F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124241	NM_001112732.3(MCF2L):c.289G>A (p.Ala97Thr)	MCF2L (A59T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124240	NM_001112732.3(MCF2L):c.2783G>A (p.Arg928Gln)	MCF2L (R890Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124238	NM_001112732.3(MCF2L):c.2007G>C (p.Glu669Asp)	MCF2L (E640D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124237	NM_001112732.3(MCF2L):c.1765G>A (p.Gly589Ser)	MCF2L (G551S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124235	NM_001112732.3(MCF2L):c.1595C>T (p.Thr532Met)	MCF2L (T503M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124234	NM_001112732.3(MCF2L):c.1474G>A (p.Glu492Lys)	MCF2L (E463K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124233	NM_001112732.3(MCF2L):c.145C>T (p.Arg49Cys)	MCF2L (R20C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124232	NM_001112732.3(MCF2L):c.1420G>A (p.Glu474Lys)	MCF2L (E445K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124231	NM_001112732.3(MCF2L):c.1362C>A (p.Asp454Glu)	MCF2L (D416E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124230	NM_001112732.3(MCF2L):c.1307C>T (p.Thr436Met)	MCF2L (T434M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124229	NM_001112732.3(MCF2L):c.1294C>A (p.Arg432Ser)	MCF2L (R403S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124228	NM_001112732.3(MCF2L):c.1136G>A (p.Arg379Gln)	MCF2L (R341Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	ADPRHL1, ATP11A +21 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684710	GRCh37/hg19 13q34(chr13:113445520-113818780)x3	ATP11A, F10 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2672551	NM_001112732.3(MCF2L):c.1244C>T (p.Ala415Val)	MCF2L (A377V +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643980	NM_001112732.3(MCF2L):c.3306G>A (p.Gly1102=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643979	NM_001112732.3(MCF2L):c.2994C>T (p.Asp998=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643978	NM_001112732.3(MCF2L):c.2364C>T (p.Thr788=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643977	NM_001112732.3(MCF2L):c.1887G>A (p.Ala629=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643976	NM_001112732.3(MCF2L):c.1674C>T (p.Gly558=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643975	NM_001112732.3(MCF2L):c.1570C>A (p.Leu524Met)	MCF2L (L486M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643974	NM_001112732.3(MCF2L):c.753G>A (p.Ala251=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643973	NM_001112732.3(MCF2L):c.669C>T (p.Thr223=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643972	NM_001112732.3(MCF2L):c.80-2600G>A	MCF2L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643971	NM_001112732.3(MCF2L):c.79+10238C>A	MCF2L (T10N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2604506	NM_001112732.3(MCF2L):c.1487A>G (p.Asn496Ser)	MCF2L (N467S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594318	NM_001112732.3(MCF2L):c.586C>T (p.Arg196Trp)	MCF2L (R158W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588755	NM_001112732.3(MCF2L):c.1123G>A (p.Val375Met)	MCF2L (V337M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010152, LOC130010153 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2543471	NM_001112732.3(MCF2L):c.2780A>G (p.His927Arg)	MCF2L (H889R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519180	NM_001112732.3(MCF2L):c.707C>G (p.Ser236Trp)	MCF2L (S234W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514166	NM_001112732.3(MCF2L):c.1703C>T (p.Ala568Val)	MCF2L (A566V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513029	NM_001112732.3(MCF2L):c.605C>T (p.Thr202Met)	MCF2L (T164M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509482	NM_001112732.3(MCF2L):c.2107C>T (p.Arg703Cys)	MCF2L (R665C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486332	NM_001112732.3(MCF2L):c.716C>T (p.Ser239Leu)	MCF2L (S201L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483167	NM_001112732.3(MCF2L):c.3212G>C (p.Gly1071Ala)	MCF2L (G1069A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476837	NM_001112732.3(MCF2L):c.2277G>T (p.Glu759Asp)	MCF2L (E721D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461752	NM_001112732.3(MCF2L):c.100A>T (p.Ile34Phe)	MCF2L (I34F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458337	NM_001112732.3(MCF2L):c.1495C>T (p.Leu499Phe)	MCF2L (L461F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409611	NM_001112732.3(MCF2L):c.1673G>T (p.Gly558Val)	MCF2L (G558V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402647	NM_001112732.3(MCF2L):c.1426G>A (p.Gly476Ser)	MCF2L (G438S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2402075	NM_001112732.3(MCF2L):c.2137G>A (p.Asp713Asn)	MCF2L (D675N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400010	NM_001112732.3(MCF2L):c.1503G>C (p.Glu501Asp)	MCF2L (E463D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397005	NM_001112732.3(MCF2L):c.2662G>A (p.Ala888Thr)	MCF2L (A859T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392683	NM_001112732.3(MCF2L):c.2683G>A (p.Val895Ile)	MCF2L (V895I +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391656	NM_001112732.3(MCF2L):c.2995G>A (p.Asp999Asn)	MCF2L (D961N +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2377651	NM_001112732.3(MCF2L):c.991C>T (p.Arg331Trp)	MCF2L (R335W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371309	NM_001112732.3(MCF2L):c.403G>A (p.Val135Met)	MCF2L (V133M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370924	NM_001112732.3(MCF2L):c.170G>A (p.Arg57Gln)	MCF2L (R55Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362040	NM_001112732.3(MCF2L):c.2825C>A (p.Thr942Asn)	MCF2L (T946N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358537	NM_001112732.3(MCF2L):c.419G>A (p.Gly140Asp)	MCF2L (G138D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346115	NM_001112732.3(MCF2L):c.2932A>G (p.Lys978Glu)	MCF2L (K976E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331344	NM_001112732.3(MCF2L):c.1166T>A (p.Ile389Asn)	MCF2L (I393N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321004	NM_001112732.3(MCF2L):c.3203C>T (p.Pro1068Leu)	MCF2L (P1072L +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315211	NM_001112732.3(MCF2L):c.1121C>T (p.Ala374Val)	MCF2L (A345V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314806	NM_001112732.3(MCF2L):c.2980G>C (p.Glu994Gln)	MCF2L (E956Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301659	NM_001112732.3(MCF2L):c.2531A>G (p.Lys844Arg)	MCF2L (K842R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297738	NM_001112732.3(MCF2L):c.1252G>A (p.Ala418Thr)	MCF2L (A389T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295972	NM_001112732.3(MCF2L):c.471C>A (p.Asp157Glu)	MCF2L (D155E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295159	NM_001112732.3(MCF2L):c.3326C>G (p.Ser1109Trp)	MCF2L (S1113W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292758	NM_001112732.3(MCF2L):c.1624C>T (p.Pro542Ser)	MCF2L (P542S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285508	NM_001112732.3(MCF2L):c.2781C>G (p.His927Gln)	MCF2L (H925Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282333	NM_001112732.3(MCF2L):c.1697G>A (p.Gly566Asp)	MCF2L (G528D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277961	NM_001112732.3(MCF2L):c.1498A>C (p.Met500Leu)	MCF2L (M462L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266740	NM_001112732.3(MCF2L):c.3206C>T (p.Thr1069Ile)	MCF2L (T1056I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265714	NM_001112732.3(MCF2L):c.3194T>C (p.Val1065Ala)	MCF2L (V1027A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251936	NM_001112732.3(MCF2L):c.46G>C (p.Val16Leu)	MCF2L (V16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244464	NM_001112732.3(MCF2L):c.981G>T (p.Glu327Asp)	MCF2L (E298D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223883	NM_001112732.3(MCF2L):c.1885G>A (p.Ala629Thr)	MCF2L (A591T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212151	NM_001112732.3(MCF2L):c.1295G>A (p.Arg432His)	MCF2L (R394H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2209732	NM_001112732.3(MCF2L):c.3152T>C (p.Val1051Ala)	MCF2L (V1022A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207599	NM_001112732.3(MCF2L):c.416C>T (p.Thr139Met)	MCF2L (T143M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205797	NM_001112732.3(MCF2L):c.1118T>G (p.Val373Gly)	MCF2L (V344G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204668	NM_001112732.3(MCF2L):c.1882G>A (p.Ala628Thr)	MCF2L (A628T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808284	GRCh37/hg19 13q34(chr13:113196617-113800575)x1	ATP11A, ATP11AUN +4 more	Copy number loss	not provided	GUncertain significance
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic

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