ClinVar for Gene (Select 142678) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3126114	NM_001170687.4(MIB2):c.413C>T (p.Ser138Leu)	MIB2 (S138L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126113	NM_001170687.4(MIB2):c.293G>C (p.Gly98Ala)	MIB2 (G98A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126111	NM_001170687.4(MIB2):c.-251C>T	LOC129929140, MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3126109	NM_001170687.4(MIB2):c.-8C>T	MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3126108	NM_001170687.4(MIB2):c.2696A>T (p.Gln899Leu)	MIB2 (Q895L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126107	NM_001170687.4(MIB2):c.2552C>T (p.Thr851Ile)	MIB2 (T786I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126106	NM_001170687.4(MIB2):c.2548C>G (p.Arg850Gly)	MIB2 (R785G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126105	NM_001170687.4(MIB2):c.2512C>G (p.Leu838Val)	MIB2 (L838V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126104	NM_001170687.4(MIB2):c.2474C>T (p.Pro825Leu)	MIB2 (P821L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126103	NM_001170687.4(MIB2):c.2410C>T (p.Pro804Ser)	MIB2 (P804S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126102	NM_001170687.4(MIB2):c.-36G>C	MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3126101	NM_001170687.4(MIB2):c.2287G>C (p.Val763Leu)	MIB2 (V698L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126100	NM_001170687.4(MIB2):c.2267T>C (p.Leu756Pro)	MIB2 (L691P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126099	NM_001170687.4(MIB2):c.-60C>T	MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3126097	NM_001170687.4(MIB2):c.2008T>A (p.Ser670Thr)	MIB2 (S666T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126096	NM_001170687.4(MIB2):c.1972C>T (p.Arg658Cys)	MIB2 (R593C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126095	NM_001170687.4(MIB2):c.1948G>T (p.Ala650Ser)	MIB2 (A650S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126094	NM_001170687.4(MIB2):c.1938C>A (p.His646Gln)	MIB2 (H581Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126093	NM_001170687.4(MIB2):c.1721C>T (p.Ala574Val)	MIB2 (A509V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126092	NM_001170687.4(MIB2):c.1642C>T (p.Arg548Trp)	MIB2 (R483W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126091	NM_001170687.4(MIB2):c.1357C>T (p.Arg453Trp)	MIB2 (R449W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126090	NM_001170687.4(MIB2):c.1186C>T (p.Arg396Trp)	MIB2 (R331W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126089	NM_001170687.4(MIB2):c.1045G>A (p.Gly349Arg)	MIB2 (G345R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126088	NM_001170687.4(MIB2):c.958G>C (p.Gly320Arg)	MIB2 (G255R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126087	NM_001170687.4(MIB2):c.680C>T (p.Ala227Val)	MIB2 (A227V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685790	GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3	MMP23B, SSU72 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685787	GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	MMEL1, PEX10 +53 more	Copy number gain	not provided	GUncertain significance
Select item 2685277	GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1	TMEM88B, UBE2J2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638048	NM_001170687.4(MIB2):c.657G>A (p.Val219=)	MIB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2604560	NM_001170687.4(MIB2):c.938C>T (p.Thr313Met)	MIB2 (T248M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604289	NM_001170687.4(MIB2):c.598A>T (p.Ser200Cys)	MIB2 (S200C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601093	NM_001170687.4(MIB2):c.2209G>T (p.Ala737Ser)	MIB2 (A672S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600415	NM_001170687.4(MIB2):c.2167G>C (p.Gly723Arg)	MIB2 (G719R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598367	NM_001170687.4(MIB2):c.1906A>G (p.Thr636Ala)	MIB2 (T571A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597636	NM_001170687.4(MIB2):c.1466C>T (p.Ala489Val)	MIB2 (A485V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597621	NM_001170687.4(MIB2):c.2702G>T (p.Arg901Leu)	MIB2 (R836L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2597606	NM_001170687.4(MIB2):c.958G>A (p.Gly320Arg)	MIB2 (G255R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594689	NM_001170687.4(MIB2):c.1340G>A (p.Arg447Gln)	MIB2 (R382Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593494	NM_001170687.4(MIB2):c.2041G>A (p.Val681Met)	MIB2 (V616M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589546	NM_001170687.4(MIB2):c.115C>G (p.Leu39Val)	MIB2 (L39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
Select item 2555285	NM_001170687.4(MIB2):c.2173G>T (p.Asp725Tyr)	MIB2 (D660Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546496	NM_001170687.4(MIB2):c.1885G>A (p.Ala629Thr)	MIB2 (A564T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545015	NM_001170687.4(MIB2):c.904C>G (p.Arg302Gly)	MIB2 (R298G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535860	NM_001170687.4(MIB2):c.2757C>G (p.Ile919Met)	MIB2 (I854M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2534279	NM_001170687.4(MIB2):c.174G>C (p.Gln58His)	MIB2 (Q58H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534278	NM_001170687.4(MIB2):c.2803T>G (p.Ser935Ala)	MIB2 (S931A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2528796	NM_001170687.4(MIB2):c.-15G>A	MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2526419	NM_001170687.4(MIB2):c.263A>T (p.Asn88Ile)	MIB2 (N88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517766	NM_080875.2(MIB2):c.38C>A (p.Ser13Tyr)	LOC129929140, MIB2 (S13Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514991	NM_001170687.4(MIB2):c.2342G>A (p.Arg781His)	MIB2 (R716H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511909	NM_001170687.4(MIB2):c.1009A>G (p.Ile337Val)	MIB2 (I272V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2493366	NM_001170687.4(MIB2):c.2679G>T (p.Gln893His)	MIB2 (Q828H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491555	NM_001170687.4(MIB2):c.-252C>T	LOC129929140, MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2489014	NM_001170687.4(MIB2):c.1231G>C (p.Glu411Gln)	MIB2 (E411Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488317	NM_001170687.4(MIB2):c.-69C>T	MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2486421	NM_001170687.4(MIB2):c.1345C>G (p.Leu449Val)	MIB2 (L445V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475119	NM_001170687.4(MIB2):c.2303A>G (p.His768Arg)	MIB2 (H768R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474276	NM_001170687.4(MIB2):c.2476G>A (p.Gly826Arg)	MIB2 (G822R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472304	NM_001170687.4(MIB2):c.2837C>G (p.Pro946Arg)	MIB2 (P881R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471976	NM_001170687.4(MIB2):c.2441A>G (p.Asn814Ser)	MIB2 (N810S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463937	NM_001170687.4(MIB2):c.1567C>T (p.Arg523Trp)	MIB2 (R519W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458974	NM_001170687.4(MIB2):c.1691C>T (p.Ser564Leu)	MIB2 (S560L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456364	NM_001170687.4(MIB2):c.-30C>G	MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2404076	NM_001170687.4(MIB2):c.94G>A (p.Gly32Ser)	MIB2 (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402104	NM_001170687.4(MIB2):c.841G>T (p.Gly281Cys)	MIB2 (G281C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400404	NM_001170687.4(MIB2):c.1003C>T (p.Arg335Trp)	MIB2 (R270W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396570	NM_001170687.4(MIB2):c.193C>T (p.Arg65Cys)	MIB2 (R65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395766	NM_001170687.4(MIB2):c.1004G>A (p.Arg335Gln)	MIB2 (R335Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394470	NM_001170687.4(MIB2):c.2454C>G (p.Asn818Lys)	MIB2 (N753K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382695	NM_001170687.4(MIB2):c.1087C>T (p.Arg363Cys)	MIB2 (R359C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381107	NM_001170687.4(MIB2):c.2286C>A (p.Asp762Glu)	MIB2 (D762E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380284	NM_001170687.4(MIB2):c.-68C>T	MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2375991	NM_001170687.4(MIB2):c.1187G>A (p.Arg396Gln)	MIB2 (R331Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360113	NM_001170687.4(MIB2):c.2224G>A (p.Gly742Ser)	MIB2 (G738S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358196	NM_001170687.4(MIB2):c.1658G>A (p.Arg553His)	MIB2 (R488H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2354899	NM_001170687.4(MIB2):c.1358G>A (p.Arg453Gln)	MIB2 (R388Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351686	NM_001170687.4(MIB2):c.1642C>G (p.Arg548Gly)	MIB2 (R544G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349792	NM_001170687.4(MIB2):c.-22-29C>T	MIB2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2339010	NM_001170687.4(MIB2):c.2159A>T (p.Asp720Val)	MIB2 (D655V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337746	NM_001170687.4(MIB2):c.-249A>G	LOC129929140, MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2319144	NM_001170687.4(MIB2):c.1871G>C (p.Arg624Pro)	MIB2 (R624P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310076	NM_001170687.4(MIB2):c.2173G>C (p.Asp725His)	MIB2 (D660H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300824	NM_001170687.4(MIB2):c.1978G>T (p.Asp660Tyr)	MIB2 (D656Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296463	NM_001170687.4(MIB2):c.2248G>T (p.Ala750Ser)	MIB2 (A746S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294519	NM_001170687.4(MIB2):c.790A>C (p.Lys264Gln)	MIB2 (K199Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293563	NM_001170687.4(MIB2):c.2672C>T (p.Pro891Leu)	MIB2 (P891L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291068	NM_001170687.4(MIB2):c.1360A>G (p.Arg454Gly)	MIB2 (R454G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290996	NM_001170687.4(MIB2):c.164A>C (p.Gln55Pro)	MIB2 (Q55P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282238	NM_001170687.4(MIB2):c.994G>A (p.Asp332Asn)	MIB2 (D328N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271589	NM_001170687.4(MIB2):c.-179G>C	LOC129929140, MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2265616	NM_001170687.4(MIB2):c.886G>A (p.Val296Met)	MIB2 (V231M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261125	NM_001170687.4(MIB2):c.1472T>C (p.Val491Ala)	MIB2 (V426A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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