"Ambry Genetics"[submitter] AND "MIB2"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2517766	NM_080875.2(MIB2):c.38C>A (p.Ser13Tyr)	LOC129929140, MIB2 (S13Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491555	NM_001170687.4(MIB2):c.-252C>T	LOC129929140, MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337746	NM_001170687.4(MIB2):c.-249A>G	MIB2, LOC129929140	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271589	NM_001170687.4(MIB2):c.-179G>C	LOC129929140, MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206699	NM_001170687.4(MIB2):c.-161T>C	LOC129929140, MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488317	NM_001170687.4(MIB2):c.-69C>T	MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380284	NM_001170687.4(MIB2):c.-68C>T	MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456364	NM_001170687.4(MIB2):c.-30C>G	MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349792	NM_001170687.4(MIB2):c.-22-29C>T	MIB2	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2528796	NM_001170687.4(MIB2):c.-15G>A	MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404076	NM_001170687.4(MIB2):c.94G>A (p.Gly32Ser)	MIB2 (G32S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589546	NM_001170687.4(MIB2):c.115C>G (p.Leu39Val)	MIB2 (L39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219865	NM_001170687.4(MIB2):c.148C>T (p.Arg50Cys)	MIB2 (R50C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290996	NM_001170687.4(MIB2):c.164A>C (p.Gln55Pro)	MIB2 (Q55P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534279	NM_001170687.4(MIB2):c.174G>C (p.Gln58His)	MIB2 (Q58H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2259215	NM_001170687.4(MIB2):c.181C>T (p.Arg61Cys)	MIB2 (R61C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396570	NM_001170687.4(MIB2):c.193C>T (p.Arg65Cys)	MIB2 (R65C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218398	NM_001170687.4(MIB2):c.250G>A (p.Val84Ile)	MIB2 (V84I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526419	NM_001170687.4(MIB2):c.263A>T (p.Asn88Ile)	MIB2 (N88I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217307	NM_001170687.4(MIB2):c.406G>A (p.Ala136Thr)	MIB2 (A136T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604289	NM_001170687.4(MIB2):c.598A>T (p.Ser200Cys)	MIB2 (S200C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2604560	NM_001170687.4(MIB2):c.938C>T (p.Thr313Met)	MIB2 (T248M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2254518	NM_001170687.4(MIB2):c.1071G>T (p.Met357Ile)	MIB2 (M353I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2212018	NM_001170687.4(MIB2):c.1298C>T (p.Pro433Leu)	MIB2 (P433L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2354899	NM_001170687.4(MIB2):c.1358G>A (p.Arg453Gln)	MIB2 (R388Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2458974	NM_001170687.4(MIB2):c.1691C>T (p.Ser564Leu)	MIB2 (S560L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2254931	NM_001170687.4(MIB2):c.1939C>G (p.Arg647Gly)	MIB2 (R647G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2555285	NM_001170687.4(MIB2):c.2173G>T (p.Asp725Tyr)	MIB2 (D660Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2212959	NM_001170687.4(MIB2):c.2470G>A (p.Ala824Thr)	MIB2 (A820T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2493366	NM_001170687.4(MIB2):c.2679G>T (p.Gln893His)	MIB2 (Q828H +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2534278	NM_001170687.4(MIB2):c.2803T>G (p.Ser935Ala)	MIB2 (S931A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2472304	NM_001170687.4(MIB2):c.2837C>G (p.Pro946Arg)	MIB2 (P881R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 72