ClinVar for MedGen (Select 346965) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246889	NC_000003.11:g.(?_167506917)_(167508410_?)del	SERPINI1	Deletion	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 3246888	NC_000003.11:g.(?_167437830)_(167543111_?)del	PDCD10, SERPINI1	Deletion	Cerebral cavernous malformation 3 +1 more	GConflicting classifications of pathogenicity
Select item 3019093	NM_001122752.2(SERPINI1):c.364G>A (p.Glu122Lys)	SERPINI1 (E122K)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 3001344	NM_001122752.2(SERPINI1):c.881+14G>A	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2994583	NM_001122752.2(SERPINI1):c.949A>G (p.Ile317Val)	SERPINI1 (I317V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2991460	NM_001122752.2(SERPINI1):c.663A>C (p.Gly221=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2990975	NM_001122752.2(SERPINI1):c.360C>T (p.Val120=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2988166	NM_001122752.2(SERPINI1):c.547G>A (p.Ala183Thr)	SERPINI1 (A183T)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2987729	NM_001122752.2(SERPINI1):c.236A>G (p.Asp79Gly)	SERPINI1 (D79G)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2975588	NM_001122752.2(SERPINI1):c.979+19T>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2975433	NM_001122752.2(SERPINI1):c.1178G>A (p.Arg393Gln)	SERPINI1 (R393Q)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2916050	NM_001122752.2(SERPINI1):c.268T>C (p.Leu90=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2905903	NM_001122752.2(SERPINI1):c.971G>T (p.Gly324Val)	SERPINI1 (G324V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2905332	NM_001122752.2(SERPINI1):c.219C>T (p.Arg73=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2903691	NM_001122752.2(SERPINI1):c.28C>T (p.Leu10=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2903650	NM_001122752.2(SERPINI1):c.293C>T (p.Thr98Ile)	SERPINI1 (T98I)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2901007	NM_001122752.2(SERPINI1):c.748G>A (p.Glu250Lys)	SERPINI1 (E250K)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2899371	NM_001122752.2(SERPINI1):c.312T>C (p.Tyr104=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2894847	NM_001122752.2(SERPINI1):c.1157-18A>T	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2894259	NM_001122752.2(SERPINI1):c.132A>G (p.Glu44=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2889551	NM_001122752.2(SERPINI1):c.173G>A (p.Gly58Glu)	SERPINI1 (G58E)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2879279	NM_001122752.2(SERPINI1):c.60T>C (p.Thr20=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2876028	NM_001122752.2(SERPINI1):c.648G>A (p.Met216Ile)	SERPINI1 (M216I)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2866108	NM_001122752.2(SERPINI1):c.1135C>T (p.Leu379Phe)	SERPINI1 (L379F)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2856647	NM_001122752.2(SERPINI1):c.1067-6C>A	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2856444	NM_001122752.2(SERPINI1):c.1067-18T>G	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2851282	NM_001122752.2(SERPINI1):c.979+17A>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2850911	NM_001122752.2(SERPINI1):c.474C>A (p.Asn158Lys)	SERPINI1 (N158K)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2850767	NM_001122752.2(SERPINI1):c.453C>A (p.Ile151=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2845773	NM_001122752.2(SERPINI1):c.38A>G (p.Gln13Arg)	SERPINI1 (Q13R)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2845696	NM_001122752.2(SERPINI1):c.892G>C (p.Glu298Gln)	SERPINI1 (E298Q)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2845429	NM_001122752.2(SERPINI1):c.664G>A (p.Glu222Lys)	SERPINI1 (E222K)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2844156	NM_001122752.2(SERPINI1):c.809_835dup (p.Glu278_Trp279insLeuValLysAlaGlnLeuValGluGlu)	SERPINI1	Duplication (inframe_insertion)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2843719	NM_001122752.2(SERPINI1):c.381G>A (p.Met127Ile)	SERPINI1 (M127I)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2836106	NM_001122752.2(SERPINI1):c.1157G>A (p.Gly386Asp)	SERPINI1 (G386D)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2831316	NM_001122752.2(SERPINI1):c.251-1G>C	SERPINI1	Single nucleotide variant (splice acceptor variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2831201	NM_001122752.2(SERPINI1):c.867A>G (p.Glu289=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2821978	NM_001122752.2(SERPINI1):c.54G>A (p.Gly18=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2821071	NM_001122752.2(SERPINI1):c.860A>T (p.Lys287Ile)	SERPINI1 (K287I)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2817791	NM_001122752.2(SERPINI1):c.882-3C>T	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2817316	NM_001122752.2(SERPINI1):c.481+17C>T	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2805822	NM_001122752.2(SERPINI1):c.1157-10A>G	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2799983	NM_001122752.2(SERPINI1):c.788C>T (p.Pro263Leu)	SERPINI1 (P263L)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2796684	NM_001122752.2(SERPINI1):c.654T>C (p.Tyr218=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2778504	NM_001122752.2(SERPINI1):c.676+9T>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2772179	NM_001122752.2(SERPINI1):c.1167A>G (p.Leu389=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2769751	NM_001122752.2(SERPINI1):c.690T>C (p.Asp230=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2763893	NM_001122752.2(SERPINI1):c.910A>G (p.Lys304Glu)	SERPINI1 (K304E)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2759835	NM_001122752.2(SERPINI1):c.1066+19T>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2755455	NM_001122752.2(SERPINI1):c.777A>G (p.Arg259=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2752780	NM_001122752.2(SERPINI1):c.1066+13A>G	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2748384	NM_001122752.2(SERPINI1):c.58A>G (p.Thr20Ala)	SERPINI1 (T20A)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2743093	NM_001122752.2(SERPINI1):c.853A>C (p.Lys285Gln)	SERPINI1 (K285Q)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2738210	NM_001122752.2(SERPINI1):c.980-9T>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2718013	NM_001122752.2(SERPINI1):c.543T>G (p.Ile181Met)	SERPINI1 (I181M)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2711371	NM_001122752.2(SERPINI1):c.799C>G (p.Leu267Val)	SERPINI1 (L267V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2435818	NM_001122752.2(SERPINI1):c.863T>C (p.Val288Ala)	SERPINI1 (V288A)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2203461	NM_001122752.2(SERPINI1):c.140T>C (p.Leu47Pro)	SERPINI1 (L47P)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2190607	NM_001122752.2(SERPINI1):c.1020C>A (p.Ser340=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2182440	NM_001122752.2(SERPINI1):c.979+4A>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2169254	NM_001122752.2(SERPINI1):c.554A>G (p.Tyr185Cys)	SERPINI1 (Y185C)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2156345	NM_001122752.2(SERPINI1):c.32T>C (p.Val11Ala)	SERPINI1 (V11A)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2155619	NM_001122752.2(SERPINI1):c.646A>G (p.Met216Val)	SERPINI1 (M216V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2146271	NM_001122752.2(SERPINI1):c.228G>A (p.Met76Ile)	SERPINI1 (M76I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2142129	NM_001122752.2(SERPINI1):c.1176A>C (p.Gly392=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2138153	NM_001122752.2(SERPINI1):c.250+11T>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2125631	NM_001122752.2(SERPINI1):c.676+8A>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2123015	NM_001122752.2(SERPINI1):c.929T>G (p.Leu310Arg)	SERPINI1 (L310R)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2119093	NM_001122752.2(SERPINI1):c.14G>T (p.Gly5Val)	SERPINI1 (G5V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2108505	NM_001122752.2(SERPINI1):c.1067-11C>T	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2108238	NM_001122752.2(SERPINI1):c.676+8del	SERPINI1	Deletion (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2106003	NM_001122752.2(SERPINI1):c.874C>A (p.Leu292Met)	SERPINI1 (L292M)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2095328	NM_001122752.2(SERPINI1):c.982A>G (p.Asn328Asp)	SERPINI1 (N328D)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2095076	NM_001122752.2(SERPINI1):c.846T>C (p.Ser282=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2090093	NM_001122752.2(SERPINI1):c.487G>A (p.Val163Met)	SERPINI1 (V163M)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2089555	NM_001122752.2(SERPINI1):c.700G>C (p.Glu234Gln)	SERPINI1 (E234Q)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2083343	NM_001122752.2(SERPINI1):c.879C>T (p.Pro293=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2079413	NM_001122752.2(SERPINI1):c.425_428del (p.Ser142fs)	SERPINI1 (S142fs)	Deletion (frameshift variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2075024	NM_001122752.2(SERPINI1):c.676+14dup	SERPINI1	Duplication (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GBenign
Select item 2073907	NM_001122752.2(SERPINI1):c.844T>G (p.Ser282Ala)	SERPINI1 (S282A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2060027	NM_001122752.2(SERPINI1):c.260T>C (p.Phe87Ser)	SERPINI1 (F87S)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GUncertain significance
Select item 2042827	NM_001122752.2(SERPINI1):c.1067-14T>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2041531	NM_001122752.2(SERPINI1):c.446A>C (p.Asn149Thr)	SERPINI1 (N149T)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2037121	NM_001122752.2(SERPINI1):c.5C>T (p.Ala2Val)	SERPINI1 (A2V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2036827	NM_001122752.2(SERPINI1):c.481+13G>A	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2028992	NM_001122752.2(SERPINI1):c.1141A>C (p.Arg381=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2022293	NM_001122752.2(SERPINI1):c.974T>G (p.Leu325Arg)	SERPINI1 (L325R)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2014336	NM_001122752.2(SERPINI1):c.676+10T>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2009830	NM_001122752.2(SERPINI1):c.530A>C (p.Tyr177Ser)	SERPINI1 (Y177S)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2006701	NM_001122752.2(SERPINI1):c.189G>A (p.Gly63=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2004369	NM_001122752.2(SERPINI1):c.1046C>T (p.Ser349Leu)	SERPINI1 (S349L)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2001234	NM_001122752.2(SERPINI1):c.313G>A (p.Val105Met)	SERPINI1 (V105M)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1986047	NM_001122752.2(SERPINI1):c.726A>G (p.Leu242=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1982055	NM_001122752.2(SERPINI1):c.982A>C (p.Asn328His)	SERPINI1 (N328H)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1981547	NM_001122752.2(SERPINI1):c.1067-20A>G	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1979070	NM_001122752.2(SERPINI1):c.838G>T (p.Ala280Ser)	SERPINI1 (A280S)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1971981	NM_001122752.2(SERPINI1):c.287T>C (p.Met96Thr)	SERPINI1 (M96T)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1964324	NM_001122752.2(SERPINI1):c.576G>C (p.Ser192=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1955857	NM_001122752.2(SERPINI1):c.1183A>C (p.Met395Leu)	SERPINI1 (M395L)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1950985	NM_001122752.2(SERPINI1):c.502T>A (p.Ser168Thr)	SERPINI1 (S168T)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance

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