"Ambry Genetics"[submitter] AND "GRN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2522313	NM_002087.4(GRN):c.8C>T (p.Thr3Ile)	GRN (T3I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GUncertain significance
Select item 1792224	NM_002087.4(GRN):c.24G>A (p.Val8=)	GRN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 487358	NM_002087.4(GRN):c.42G>A (p.Leu14=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GBenign/Likely benign
Select item 451234	NM_002087.4(GRN):c.53C>T (p.Thr18Met)	GRN (T18M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 98120	NM_002087.4(GRN):c.55C>T (p.Arg19Trp)	GRN (R19W)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 98123	NM_002087.4(GRN):c.99C>T (p.Asp33=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +4 more	GBenign/Likely benign
Select item 323531	NM_002087.4(GRN):c.100C>G (p.Pro34Ala)	GRN (P34A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1755347	NM_002087.4(GRN):c.101C>T (p.Pro34Leu)	GRN (P34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1517954	NM_002087.4(GRN):c.128G>A (p.Arg43His)	GRN (R43H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 588760	NM_002087.4(GRN):c.139-3T>C	GRN	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 588452	NM_002087.4(GRN):c.157C>G (p.Leu53Val)	GRN (L53V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 586219	NM_002087.4(GRN):c.228C>T (p.Thr76=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +3 more	GBenign/Likely benign
Select item 588453	NM_002087.4(GRN):c.238A>T (p.Thr80Ser)	GRN (T80S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 805122	NM_002087.4(GRN):c.253C>G (p.Pro85Ala)	GRN (P85A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2166026	NM_002087.4(GRN):c.258C>G (p.Phe86Leu)	GRN (F86L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1598641	NM_002087.4(GRN):c.267C>T (p.Ala89=)	GRN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2283735	NM_002087.4(GRN):c.274T>C (p.Cys92Arg)	GRN (C92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1215483	NM_002087.4(GRN):c.276C>T (p.Cys92=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +3 more	GLikely benign
Select item 587860	NM_002087.4(GRN):c.287A>G (p.His96Arg)	GRN (H96R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GConflicting classifications of pathogenicity
Select item 587776	NM_002087.4(GRN):c.302G>A (p.Arg101Gln)	GRN (R101Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GUncertain significance
Select item 589177	NM_002087.4(GRN):c.329G>A (p.Arg110Gln)	GRN (R110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 98135	NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)	GRN (S120Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 98137	NM_002087.4(GRN):c.384T>C (p.Asp128=)	GRN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 589035	NM_002087.4(GRN):c.393C>G (p.Phe131Leu)	GRN (F131L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1737093	NM_002087.4(GRN):c.401C>T (p.Pro134Leu)	GRN (P134L)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
Select item 589965	NM_002087.4(GRN):c.415T>C (p.Cys139Arg)	GRN (C139R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 98140	NM_002087.4(GRN):c.421G>A (p.Val141Ile)	GRN (V141I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1739622	NM_002087.4(GRN):c.430G>A (p.Asp144Asn)	GRN (D144N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 645598	NM_002087.4(GRN):c.442G>A (p.Gly148Arg)	GRN (G148R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 473064	NM_002087.4(GRN):c.513C>T (p.Cys171=)	GRN	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GLikely benign
Select item 98144	NM_002087.4(GRN):c.545C>T (p.Thr182Met)	GRN (T182M)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GBenign/Likely benign
Select item 258552	NM_002087.4(GRN):c.546G>A (p.Thr182=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GBenign/Likely benign
Select item 1550285	NM_002087.4(GRN):c.552C>T (p.Thr184=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GLikely benign
Select item 588342	NM_002087.4(GRN):c.568A>C (p.Lys190Gln)	GRN (K190Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +2 more	GUncertain significance
Select item 3102719	NM_002087.4(GRN):c.574C>T (p.Pro192Ser)	GRN (P192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293461	NM_002087.4(GRN):c.595G>A (p.Ala199Thr)	GRN (A199T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1972672	NM_002087.4(GRN):c.614C>T (p.Ser205Leu)	GRN (S205L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 590140	NM_002087.4(GRN):c.615G>A (p.Ser205=)	GRN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 890943	NM_002087.4(GRN):c.626C>T (p.Pro209Leu)	GRN (P209L)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GConflicting classifications of pathogenicity
Select item 588484	NM_002087.4(GRN):c.634C>T (p.Arg212Trp)	GRN (R212W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 98145	NM_002087.4(GRN):c.635G>A (p.Arg212Gln)	GRN (R212Q)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
Select item 778671	NM_002087.4(GRN):c.690C>T (p.Gly230=)	GRN, LOC125177489	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 98147	NM_002087.4(GRN):c.698C>A (p.Pro233Gln)	GRN, LOC125177489 (P233Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 447478	NM_002087.4(GRN):c.705C>A (p.Pro235=)	GRN, LOC125177489	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GBenign/Likely benign
Select item 586221	NM_002087.4(GRN):c.708+6_708+9del	GRN, LOC125177489	Microsatellite (splice donor variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GPathogenic/Likely pathogenic
Select item 2285440	NM_002087.4(GRN):c.724G>A (p.Asp242Asn)	GRN, LOC125177489 (D242N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468572	NM_002087.4(GRN):c.762C>A (p.Asp254Glu)	GRN (D254E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589992	NM_002087.4(GRN):c.803C>T (p.Thr268Met)	GRN (T268M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2491036	NM_002087.4(GRN):c.823C>T (p.Pro275Ser)	GRN (P275S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407986	NM_002087.4(GRN):c.824C>A (p.Pro275His)	GRN (P275H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588995	NM_002087.4(GRN):c.827C>T (p.Ala276Val)	GRN (A276V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2492400	NM_002087.4(GRN):c.857T>G (p.Met286Arg)	GRN (M286R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1385125	NM_002087.4(GRN):c.881A>G (p.Tyr294Cys)	GRN (Y294C)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
Select item 589907	NM_002087.4(GRN):c.892C>T (p.Arg298Cys)	GRN (R298C)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
Select item 98159	NM_002087.4(GRN):c.903G>A (p.Ser301=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +4 more	GBenign/Likely benign
Select item 2397854	NM_002087.4(GRN):c.933G>A (p.Gln311=)	GRN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GUncertain significance
Select item 1767743	NM_002087.4(GRN):c.967_976del (p.Pro323fs)	GRN (P323fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 98165	NM_002087.4(GRN):c.970G>A (p.Ala324Thr)	GRN (A324T)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GConflicting classifications of pathogenicity
Select item 1377707	NM_002087.4(GRN):c.989C>T (p.Thr330Met)	GRN (T330M)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
Select item 892180	NM_002087.4(GRN):c.1019A>T (p.His340Leu)	GRN (H340L)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GConflicting classifications of pathogenicity
Select item 2279608	NM_002087.4(GRN):c.1023G>T (p.Gln341His)	GRN (Q341H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622166	NM_002087.4(GRN):c.1025T>C (p.Val342Ala)	GRN (V342A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 805121	NM_002087.4(GRN):c.1112G>C (p.Ser371Thr)	GRN (S371T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 323534	NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del)	GRN (S375del)	Microsatellite (inframe_deletion)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GUncertain significance
Select item 3102716	NM_002087.4(GRN):c.1124C>G (p.Ser375Cys)	GRN (S375C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 706246	NM_002087.4(GRN):c.1126G>A (p.Asp376Asn)	GRN (D376N)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GLikely benign
Select item 1734749	NM_002087.4(GRN):c.1153G>T (p.Glu385Ter)	GRN (E385*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 589242	NM_002087.4(GRN):c.1180-3C>T	GRN	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 935719	NM_002087.4(GRN):c.1193C>T (p.Ser398Leu)	GRN (S398L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1754633	NM_002087.4(GRN):c.1227G>T (p.Thr409=)	GRN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 258551	NM_002087.4(GRN):c.1227G>A (p.Thr409=)	GRN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 98176	NM_002087.4(GRN):c.1241G>T (p.Gly414Val)	GRN (G414V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 98178	NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)	GRN (R418Q)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +4 more	GConflicting classifications of pathogenicity
Select item 98179	NM_002087.4(GRN):c.1294C>T (p.Arg432Cys)	GRN (R432C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2262853	NM_002087.4(GRN):c.1295G>A (p.Arg432His)	GRN (R432H)	Single nucleotide variant (missense variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GUncertain significance
Select item 98180	NM_002087.4(GRN):c.1297C>T (p.Arg433Trp)	GRN (R433W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 193853	NM_002087.4(GRN):c.1298G>A (p.Arg433Gln)	GRN (R433Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +3 more	GBenign/Likely benign
Select item 3102718	NM_002087.4(GRN):c.1327G>A (p.Gly443Ser)	GRN (G443S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 98181	NM_002087.4(GRN):c.1341C>T (p.His447=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GConflicting classifications of pathogenicity
Select item 1771458	NM_002087.4(GRN):c.1388G>A (p.Ser463Asn)	GRN (S463N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 98187	NM_002087.4(GRN):c.1425C>T (p.Cys475=)	GRN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 589971	NM_002087.4(GRN):c.1432C>T (p.Arg478Cys)	GRN (R478C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1772950	NM_002087.4(GRN):c.1450G>T (p.Ala484Ser)	GRN (A484S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307510	NM_002087.4(GRN):c.1493A>G (p.Glu498Gly)	GRN (E498G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1773906	NM_002087.4(GRN):c.1497G>T (p.Val499=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +2 more	GLikely benign
Select item 589862	NM_002087.4(GRN):c.1497G>C (p.Val499=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GLikely benign
Select item 1518387	NM_002087.4(GRN):c.1514C>G (p.Ala505Gly)	GRN (A505G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1573475	NM_002087.4(GRN):c.1515C>T (p.Ala505=)	GRN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1636270	NM_002087.4(GRN):c.1539C>T (p.His513=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +3 more	GLikely benign
Select item 587957	NM_002087.4(GRN):c.1540G>A (p.Val514Met)	GRN (V514M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 11 +3 more	GUncertain significance
Select item 98189	NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)	GRN (G515A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 588635	NM_002087.4(GRN):c.1555G>A (p.Val519Met)	GRN (V519M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 323537	NM_002087.4(GRN):c.1641C>T (p.Arg547=)	GRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1777593	NM_002087.4(GRN):c.1667G>A (p.Arg556His)	GRN (R556H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200034	NM_002087.4(GRN):c.1696G>A (p.Ala566Thr)	GRN (A566T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1490868	NM_002087.4(GRN):c.1712A>G (p.Lys571Arg)	GRN (K571R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2040155	NM_002087.4(GRN):c.1720C>T (p.Arg574Cys)	GRN (R574C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1009582	NM_002087.4(GRN):c.1721G>A (p.Arg574His)	GRN (R574H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2475395	NM_002087.4(GRN):c.1729G>T (p.Ala577Ser)	GRN (A577S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589817	NM_002087.4(GRN):c.1736G>A (p.Arg579His)	GRN (R579H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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