"Ambry Genetics"[submitter] AND "MEI1"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2307596	NM_152513.4(MEI1):c.141C>G (p.Cys47Trp)	MEI1 (C47W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294022	NM_152513.4(MEI1):c.345T>G (p.Ile115Met)	MEI1 (I115M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328088	NM_152513.4(MEI1):c.367A>G (p.Thr123Ala)	MEI1 (T123A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529478	NM_152513.4(MEI1):c.394C>T (p.Arg132Cys)	MEI1 (R132C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530364	NM_152513.4(MEI1):c.395G>A (p.Arg132His)	MEI1 (R132H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2366849	NM_152513.4(MEI1):c.455T>A (p.Leu152Gln)	MEI1 (L152Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538677	NM_152513.4(MEI1):c.787C>G (p.Gln263Glu)	MEI1 (Q263E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216516	NM_152513.4(MEI1):c.839C>T (p.Thr280Ile)	MEI1 (T280I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525772	NM_152513.4(MEI1):c.913A>G (p.Ile305Val)	MEI1 (I305V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307597	NM_152513.4(MEI1):c.931C>G (p.His311Asp)	MEI1 (H311D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551118	NM_152513.4(MEI1):c.1040G>T (p.Cys347Phe)	MEI1 (C347F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270270	NM_152513.4(MEI1):c.1075T>A (p.Ser359Thr)	MEI1 (S359T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487573	NM_152513.4(MEI1):c.1288G>A (p.Glu430Lys)	MEI1 (E430K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258090	NM_152513.4(MEI1):c.1403G>A (p.Arg468Gln)	MEI1 (R468Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520685	NM_152513.4(MEI1):c.1412A>C (p.Glu471Ala)	MEI1 (E471A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522751	NM_152513.4(MEI1):c.1531G>T (p.Ala511Ser)	MEI1 (A511S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605213	NM_152513.4(MEI1):c.1562A>C (p.Glu521Ala)	MEI1 (E521A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222653	NM_152513.4(MEI1):c.1895A>G (p.Tyr632Cys)	MEI1 (Y632C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2590060	NM_152513.4(MEI1):c.2192G>A (p.Arg731His)	MEI1 (R731H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378591	NM_152513.4(MEI1):c.2197C>T (p.Pro733Ser)	MEI1 (P733S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609186	NM_152513.4(MEI1):c.2225A>G (p.Tyr742Cys)	MEI1 (Y742C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617495	NM_152513.4(MEI1):c.2248A>G (p.Lys750Glu)	MEI1 (K750E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214518	NM_152513.4(MEI1):c.2263C>T (p.Arg755Cys)	MEI1 (R755C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370116	NM_152513.4(MEI1):c.2274G>A (p.Met758Ile)	MEI1 (M758I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356593	NM_152513.4(MEI1):c.2308C>T (p.Pro770Ser)	MEI1 (P770S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535165	NM_152513.4(MEI1):c.2395C>T (p.Arg799Cys)	MEI1 (R799C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262861	NM_152513.4(MEI1):c.2449G>A (p.Asp817Asn)	MEI1 (D817N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601357	NM_152513.4(MEI1):c.2465G>T (p.Gly822Val)	MEI1 (G822V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294374	NM_152513.4(MEI1):c.2473G>A (p.Ala825Thr)	MEI1 (A825T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2302762	NM_152513.4(MEI1):c.2562C>G (p.Ser854Arg)	MEI1 (S854R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411377	NM_152513.4(MEI1):c.2570A>G (p.Asp857Gly)	MEI1 (D857G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513929	NM_152513.4(MEI1):c.2572A>G (p.Thr858Ala)	MEI1 (T858A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338699	NM_152513.4(MEI1):c.2603C>A (p.Thr868Asn)	MEI1 (T868N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539553	NM_152513.4(MEI1):c.2851G>A (p.Val951Met)	LOC130067556, MEI1 (V951M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548871	NM_152513.4(MEI1):c.2929G>T (p.Ala977Ser)	MEI1 (A977S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332717	NM_152513.4(MEI1):c.3022C>G (p.Leu1008Val)	MEI1 (L1008V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256457	NM_152513.4(MEI1):c.3049G>A (p.Ala1017Thr)	MEI1 (A1017T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238128	NM_152513.4(MEI1):c.3127A>G (p.Lys1043Glu)	MEI1 (K1043E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296061	NM_152513.4(MEI1):c.3293G>A (p.Arg1098Gln)	MEI1 (R1098Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344705	NM_152513.4(MEI1):c.3530C>T (p.Thr1177Ile)	MEI1 (T1177I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208405	NM_152513.4(MEI1):c.3548G>A (p.Arg1183Gln)	MEI1 (R1183Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2336269	NM_152513.4(MEI1):c.3569A>G (p.His1190Arg)	MEI1 (H1190R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344707	NM_152513.4(MEI1):c.3782G>T (p.Cys1261Phe)	MEI1 (C1261F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 43