ClinVar for MedGen (Select 934638) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690221	NM_005993.5(TBCD):c.146G>C (p.Gly49Ala)	LOC130062062, TBCD (G49A)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2633532	NM_005993.5(TBCD):c.2983del (p.Glu995fs)	TBCD (E968fs +2 more)	Deletion (frameshift variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GLikely pathogenic
Select item 2582324	NM_005993.5(TBCD):c.345_346del (p.Tyr115_Lys116delinsTer)	TBCD	Microsatellite (nonsense)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GLikely pathogenic
Select item 2570653	NM_005993.5(TBCD):c.2077C>A (p.Pro693Thr)	LOC126862673, TBCD (P676T +2 more)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GLikely pathogenic
Select item 2570652	NM_005993.5(TBCD):c.2472-2A>G	TBCD	Single nucleotide variant (splice acceptor variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GLikely pathogenic
Select item 2436972	NM_005993.5(TBCD):c.2701_2718dup (p.Val906_Ala907insArgIleMetCysCysVal)	TBCD	Duplication (inframe_indel +1 more)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2436971	NM_005993.5(TBCD):c.1604A>C (p.Asp535Ala)	TBCD (D518A +1 more)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2436970	NM_005993.5(TBCD):c.1927G>A (p.Val643Ile)	TBCD (V616I +2 more)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2436969	NM_005993.5(TBCD):c.3121G>A (p.Val1041Met)	TBCD (V1014M +2 more)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2436968	NM_005993.5(TBCD):c.1318+23870C>T	TBCD, ZNF750	Single nucleotide variant (intron variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2436967	NM_005993.5(TBCD):c.2804C>G (p.Pro935Arg)	TBCD (P908R +2 more)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 2382541	NM_005993.5(TBCD):c.2780C>T (p.Thr927Met)	TBCD (T900M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2078923	NM_005993.5(TBCD):c.3483C>T (p.Asp1161=)	TBCD	Single nucleotide variant (synonymous variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1985756	NM_005993.5(TBCD):c.2770G>A (p.Val924Met)	TBCD (V907M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1939203	NM_005993.5(TBCD):c.3479+11G>A	TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1935864	NM_005993.5(TBCD):c.3008A>G (p.Gln1003Arg)	TBCD (Q1003R +2 more)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance
Select item 1805370	NM_005993.5(TBCD):c.10A>T (p.Ser4Cys)	TBCD (S4C)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1805322	NM_005993.5(TBCD):c.2560G>A (p.Gly854Ser)	TBCD (G827S +2 more)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1707501	NM_005993.5(TBCD):c.1006C>T (p.Gln336Ter)	TBCD (Q319* +1 more)	Single nucleotide variant (nonsense)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GPathogenic
Select item 1699274	NM_005993.5(TBCD):c.3562C>T (p.Gln1188Ter)	TBCD (Q1188*)	Single nucleotide variant (nonsense)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1693373	NM_005993.5(TBCD):c.1327G>A (p.Val443Met)	TBCD (V443M)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance
Select item 1691218	NM_005993.5(TBCD):c.2293C>T (p.Arg765Trp)	TBCD (R765W)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance
Select item 1686668	NM_005993.4(TBCD):c.1150_1171del	TBCD	Deletion	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1683318	NM_005993.5(TBCD):c.1224-2A>G	TBCD	Single nucleotide variant (splice acceptor variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1632424	NM_005993.5(TBCD):c.3447C>T (p.Asp1149=)	TBCD	Single nucleotide variant (synonymous variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1580600	NM_005993.5(TBCD):c.2991+8G>A	TBCD	Single nucleotide variant (intron variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1526119	NM_005993.5(TBCD):c.1720C>T (p.His574Tyr)	TBCD (H574Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1516885	NM_005993.5(TBCD):c.3550C>T (p.Gln1184Ter)	TBCD (Q1184*)	Single nucleotide variant (nonsense)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance
Select item 1372626	NM_005993.5(TBCD):c.2582C>T (p.Thr861Met)	TBCD (T861M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1342503	NM_005993.5(TBCD):c.907C>T (p.Arg303Ter)	TBCD (R303*)	Single nucleotide variant (nonsense)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1339123	NM_005993.5(TBCD):c.2164C>T (p.Arg722Cys)	TBCD (R722C)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1325578	NM_005993.5(TBCD):c.2693C>T (p.Thr898Ile)	TBCD (T898I)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1273381	NM_005993.5(TBCD):c.2038+41C>G	TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1266366	NM_005993.5(TBCD):c.1475+25C>T	TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1265397	NM_005993.5(TBCD):c.1319-43G>A	TBCD	Single nucleotide variant (intron variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GBenign
Select item 1258578	NM_005993.5(TBCD):c.3191+27T>C	TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1243104	NM_005993.5(TBCD):c.2853-44G>A	TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1231926	NM_005993.5(TBCD):c.2039-43A>G	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1170179	NM_005993.5(TBCD):c.3281+17G>A	TBCD	Single nucleotide variant (intron variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GBenign
Select item 1167727	NM_005993.5(TBCD):c.28G>T (p.Gly10Cys)	TBCD (G10C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1167404	NM_005993.5(TBCD):c.3486G>A (p.Ala1162=)	TBCD	Single nucleotide variant (synonymous variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GBenign
Select item 1167403	NM_005993.5(TBCD):c.3290A>G (p.Glu1097Gly)	TBCD (E1097G)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GBenign
Select item 1167402	NM_005993.5(TBCD):c.2859T>C (p.Asp953=)	TBCD	Single nucleotide variant (synonymous variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GBenign
Select item 1167401	NM_005993.5(TBCD):c.1850T>C (p.Met617Thr)	TBCD (M617T)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GBenign
Select item 1034238	NM_005993.5(TBCD):c.390G>C (p.Glu130Asp)	TBCD (E130D)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1034237	NM_005993.5(TBCD):c.2429G>C (p.Ser810Thr)	TBCD (S810T)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance
Select item 1034236	NM_005993.5(TBCD):c.2273C>T (p.Thr758Met)	TBCD (T758M)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance
Select item 1034235	NM_005993.5(TBCD):c.2239G>A (p.Glu747Lys)	TBCD (E747K)	Single nucleotide variant (missense variant)	TBCD-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1034234	NM_005993.5(TBCD):c.1324G>A (p.Ala442Thr)	TBCD (A442T)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1030996	NM_005993.5(TBCD):c.2764G>A (p.Ala922Thr)	TBCD (A922T)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1030995	NM_005993.5(TBCD):c.2690A>G (p.His897Arg)	TBCD (H897R)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +2 more	GUncertain significance
Select item 1030994	NM_005993.5(TBCD):c.2579C>T (p.Thr860Ile)	TBCD (T860I)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1030993	NM_005993.5(TBCD):c.2464A>G (p.Ile822Val)	TBCD (I822V)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1030992	NM_005993.5(TBCD):c.214C>T (p.His72Tyr)	TBCD (H72Y)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1030991	NM_005993.5(TBCD):c.1957C>T (p.Gln653Ter)	TBCD (Q653*)	Single nucleotide variant (nonsense)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GPathogenic
Select item 1030990	NM_005993.5(TBCD):c.131G>C (p.Arg44Pro)	LOC130062062, TBCD (R44P)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1030989	NM_005993.5(TBCD):c.1126G>A (p.Val376Met)	TBCD (V376M)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1028464	NM_005993.5(TBCD):c.3538G>A (p.Val1180Ile)	TBCD (V1180I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1028463	NM_005993.5(TBCD):c.3512G>T (p.Arg1171Leu)	TBCD (R1171L)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance
Select item 1028462	NM_005993.5(TBCD):c.3511C>T (p.Arg1171Cys)	TBCD (R1171C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028461	NM_005993.5(TBCD):c.320A>G (p.Tyr107Cys)	TBCD (Y107C)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 1028460	NM_005993.5(TBCD):c.29G>A (p.Gly10Asp)	TBCD (G10D)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 986374	NM_005993.5(TBCD):c.2789A>G (p.His930Arg)	TBCD (H930R)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 986373	NM_005993.5(TBCD):c.2100del (p.Ile700fs)	LOC126862673, TBCD (I700fs)	Deletion (frameshift variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 978061	NM_005993.5(TBCD):c.2693+1G>A	TBCD	Single nucleotide variant (splice donor variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GPathogenic
Select item 977142	NM_005993.5(TBCD):c.951-2A>G	TBCD	Single nucleotide variant (splice acceptor variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 976751	NM_005993.5(TBCD):c.2006+5G>A	TBCD	Single nucleotide variant (intron variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GPathogenic
Select item 976674	NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser)	TBCD (G1103S)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GConflicting classifications of pathogenicity
Select item 973248	NM_005993.5(TBCD):c.2302GAG[1] (p.Glu769del)	TBCD (E769del)	Microsatellite (inframe_deletion)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 973247	NM_005993.5(TBCD):c.1255G>A (p.Gly419Arg)	TBCD (G419R)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 929158	NM_005993.5(TBCD):c.3212T>G (p.Leu1071Trp)	TBCD (L1071W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 870414	NM_005993.5(TBCD):c.3194A>G (p.His1065Arg)	TBCD (H1065R)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 870413	NM_005993.5(TBCD):c.1399G>A (p.Ala467Thr)	TBCD (A467T)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 808338	NM_005993.5(TBCD):c.1433A>G (p.Tyr478Cys)	TBCD (Y478C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 807701	NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu)	TBCD (P1042L)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 807700	NM_005993.5(TBCD):c.2380-1G>A	TBCD	Single nucleotide variant (splice acceptor variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GLikely pathogenic
Select item 807699	NM_005993.5(TBCD):c.1504C>G (p.Arg502Gly)	TBCD (R502G)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GLikely pathogenic
Select item 801003	NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg)	TBCD (K571R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 740006	NM_005993.5(TBCD):c.2327C>T (p.Ser776Leu)	TBCD (S776L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 732683	NM_005993.5(TBCD):c.1057G>A (p.Asp353Asn)	TBCD (D353N)	Single nucleotide variant (missense variant)	TBCD-related condition +2 more	GConflicting classifications of pathogenicity
Select item 723059	NM_005993.5(TBCD):c.2566A>G (p.Met856Val)	TBCD (M856V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 692021	NM_005993.5(TBCD):c.967C>T (p.Arg323Ter)	TBCD (R323*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 692020	NM_005993.5(TBCD):c.1340C>T (p.Ala447Val)	TBCD (A447V)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GLikely pathogenic
Select item 635067	NM_005993.5(TBCD):c.2209T>C (p.Cys737Arg)	TBCD (C737R)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 635066	NM_005993.5(TBCD):c.1087+5G>A	TBCD	Single nucleotide variant (intron variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 624104	NM_005993.5(TBCD):c.230A>G (p.His77Arg)	TBCD (H77R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 587585	NM_005993.5(TBCD):c.1537G>A (p.Ala513Thr)	TBCD (A513T)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 587405	NM_005993.5(TBCD):c.3126G>A (p.Pro1042=)	TBCD	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 587404	NM_005993.5(TBCD):c.2137C>G (p.His713Asp)	TBCD (H713D)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GUncertain significance
Select item 546810	NM_005993.5(TBCD):c.2852+3A>G	TBCD	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 452575	NM_005993.5(TBCD):c.1661C>T (p.Ala554Val)	TBCD (A554V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 423874	NM_005993.5(TBCD):c.880C>T (p.Arg294Trp)	TBCD (R294W)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 393181	NM_005993.5(TBCD):c.1739G>A (p.Arg580Gln)	TBCD (R580Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 392122	NM_005993.5(TBCD):c.1615G>A (p.Val539Ile)	TBCD (V539I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 279953	NM_005993.5(TBCD):c.1423G>A (p.Ala475Thr)	TBCD (A475T)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GPathogenic
Select item 268175	NM_005993.5(TBCD):c.1130G>A (p.Arg377Gln)	TBCD (R377Q)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GPathogenic
Select item 268174	NM_005993.5(TBCD):c.1876G>A (p.Ala626Thr)	TBCD (A626T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 268173	NM_005993.5(TBCD):c.686T>G (p.Leu229Arg)	TBCD (L229R)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GUncertain significance
Select item 268172	NM_005993.5(TBCD):c.2810C>G (p.Pro937Arg)	TBCD (P937R)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	GPathogenic
Select item 268171	NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu)	TBCD (P1122L)	Single nucleotide variant (missense variant)	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome +1 more	GConflicting classifications of pathogenicity

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