TIMM44[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 137650	NM_006351.4(TIMM44):c.*20T>G	TIMM44	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 2610973	NM_006351.4(TIMM44):c.1354C>T (p.Leu452Phe)	TIMM44 (L452F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 215256	NM_006351.4(TIMM44):c.1307C>T (p.Ala436Val)	TIMM44 (A436V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137649	NM_006351.4(TIMM44):c.1305C>T (p.Tyr435=)	TIMM44	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3177546	NM_006351.4(TIMM44):c.1273C>G (p.Leu425Val)	TIMM44 (L425V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 215250	NM_006351.4(TIMM44):c.1272G>A (p.Ala424=)	TIMM44	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2276494	NM_006351.4(TIMM44):c.1252C>T (p.Arg418Trp)	TIMM44 (R418W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374786	NM_006351.4(TIMM44):c.1238C>T (p.Pro413Leu)	TIMM44 (P413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266306	NM_006351.4(TIMM44):c.1208A>G (p.Asn403Ser)	TIMM44 (N403S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326189	NM_006351.4(TIMM44):c.1204A>G (p.Arg402Gly)	TIMM44 (R402G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362571	NM_006351.4(TIMM44):c.1162G>A (p.Val388Met)	TIMM44 (V388M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466385	NM_006351.4(TIMM44):c.1156G>A (p.Gly386Arg)	TIMM44 (G386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050231	NM_006351.4(TIMM44):c.1136T>C (p.Met379Thr)	TIMM44 (M379T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137648	NM_006351.4(TIMM44):c.1128+3A>G	TIMM44	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2395717	NM_006351.4(TIMM44):c.1123G>A (p.Val375Ile)	TIMM44 (V375I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397625	NM_006351.4(TIMM44):c.1121A>G (p.Asn374Ser)	TIMM44 (N374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 137647	NM_006351.4(TIMM44):c.1114A>G (p.Ile372Val)	TIMM44 (I372V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2217580	NM_006351.4(TIMM44):c.1103G>T (p.Arg368Leu)	TIMM44 (R368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1291438	NM_006351.4(TIMM44):c.1038+23dup	TIMM44	Duplication (intron variant)	not provided	GBenign
Select item 1317407	NM_006351.4(TIMM44):c.1038+35del	TIMM44	Deletion (intron variant)	not provided	GLikely benign
Select item 2615340	NM_006351.4(TIMM44):c.1018A>G (p.Lys340Glu)	TIMM44 (K340E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709153	NM_006351.4(TIMM44):c.990C>T (p.Ala330=)	TIMM44	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3177551	NM_006351.4(TIMM44):c.941G>A (p.Arg314Gln)	TIMM44 (R314Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 137646	NM_006351.4(TIMM44):c.924G>A (p.Pro308=)	TIMM44	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 215255	NM_006351.4(TIMM44):c.923C>A (p.Pro308Gln)	TIMM44 (P308Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3177550	NM_006351.4(TIMM44):c.907A>T (p.Ile303Phe)	TIMM44 (I303F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 137645	NM_006351.4(TIMM44):c.863-8C>T	TIMM44	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288500	NM_006351.4(TIMM44):c.863-40C>T	TIMM44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238150	NM_006351.4(TIMM44):c.862+42C>T	TIMM44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2496389	NM_006351.4(TIMM44):c.853G>C (p.Asp285His)	TIMM44 (D285H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315274	NM_006351.4(TIMM44):c.851C>T (p.Thr284Ile)	TIMM44 (T284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 379185	NM_006351.4(TIMM44):c.804C>T (p.Ser268=)	TIMM44	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 387920	NM_006351.4(TIMM44):c.771G>C (p.Arg257=)	TIMM44	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3326187	NM_006351.4(TIMM44):c.757G>A (p.Val253Met)	TIMM44 (V253M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 137644	NM_006351.4(TIMM44):c.753C>G (p.Asn251Lys)	TIMM44 (N251K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2392475	NM_006351.4(TIMM44):c.700G>A (p.Val234Met)	TIMM44 (V234M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622783	NM_006351.4(TIMM44):c.684G>C (p.Glu228Asp)	TIMM44 (E228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 137643	NM_006351.4(TIMM44):c.683+16T>A	TIMM44	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3177549	NM_006351.4(TIMM44):c.622C>T (p.Arg208Trp)	TIMM44 (R208W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357218	NM_006351.4(TIMM44):c.617G>A (p.Arg206Gln)	TIMM44 (R206Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 215249	NM_006351.4(TIMM44):c.580G>A (p.Val194Ile)	TIMM44 (V194I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470621	NM_006351.4(TIMM44):c.574G>A (p.Asp192Asn)	TIMM44 (D192N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 137642	NM_006351.4(TIMM44):c.573C>T (p.Asp191=)	TIMM44	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 137641	NM_006351.4(TIMM44):c.544-9C>T	TIMM44	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3177548	NM_006351.4(TIMM44):c.512G>A (p.Gly171Asp)	TIMM44 (G171D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359210	NM_006351.4(TIMM44):c.494A>G (p.Lys165Arg)	TIMM44 (K165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272090	NM_006351.4(TIMM44):c.461A>G (p.Lys154Arg)	TIMM44 (K154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267296	NM_006351.4(TIMM44):c.445G>A (p.Val149Met)	TIMM44 (V149M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2534037	NM_006351.4(TIMM44):c.424G>A (p.Gly142Ser)	TIMM44 (G142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 378731	NM_006351.4(TIMM44):c.423C>T (p.Leu141=)	TIMM44	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 215254	NM_006351.4(TIMM44):c.400C>T (p.His134Tyr)	TIMM44 (H134Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137640	NM_006351.4(TIMM44):c.396C>T (p.Ser132=)	TIMM44	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 378730	NM_006351.4(TIMM44):c.363G>A (p.Lys121=)	TIMM44	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 137658	NM_006351.4(TIMM44):c.342G>A (p.Thr114=)	TIMM44	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2485889	NM_006351.4(TIMM44):c.341C>T (p.Thr114Met)	TIMM44 (T114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 215253	NM_006351.4(TIMM44):c.313-13G>A	TIMM44	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 137657	NM_006351.4(TIMM44):c.313-15G>A	TIMM44	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1693048	NM_006351.4(TIMM44):c.313-25_313-23del	TIMM44	Deletion (intron variant)	not provided	GLikely benign
Select item 1259813	NM_006351.4(TIMM44):c.313-24_313-23del	TIMM44	Deletion (intron variant)	not provided	GBenign
Select item 1259115	NM_006351.4(TIMM44):c.313-74T>C	TIMM44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3326190	NM_006351.4(TIMM44):c.239G>A (p.Ser80Asn)	TIMM44 (S80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206736	NM_006351.4(TIMM44):c.225A>C (p.Lys75Asn)	TIMM44 (K75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 137655	NM_006351.4(TIMM44):c.203A>G (p.Lys68Arg)	TIMM44 (K68R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 137654	NM_006351.4(TIMM44):c.184G>A (p.Gly62Ser)	TIMM44 (G62S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 137653	NM_006351.4(TIMM44):c.138A>G (p.Pro46=)	TIMM44	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3177545	NM_006351.4(TIMM44):c.122C>T (p.Pro41Leu)	TIMM44 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 215252	NM_006351.4(TIMM44):c.102G>A (p.Ser34=)	TIMM44	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2552397	NM_006351.4(TIMM44):c.83A>G (p.His28Arg)	TIMM44 (H28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 137652	NM_006351.4(TIMM44):c.69A>G (p.Gln23=)	TIMM44	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 215251	NM_006351.4(TIMM44):c.58A>G (p.Ser20Gly)	TIMM44 (S20G)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 215257	NM_006351.4(TIMM44):c.46-8C>A	TIMM44	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 137651	NM_006351.4(TIMM44):c.46-8C>G	TIMM44	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 215258	NM_006351.4(TIMM44):c.45+16G>T	TIMM44	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 137656	NM_006351.4(TIMM44):c.45+8G>A	TIMM44	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2273878	NM_006351.4(TIMM44):c.32G>T (p.Cys11Phe)	TIMM44 (C11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326188	NM_006351.4(TIMM44):c.28T>C (p.Trp10Arg)	TIMM44 (W10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177547	NM_006351.4(TIMM44):c.22A>T (p.Ser8Cys)	TIMM44 (S8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	PCP2, PET100 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 86