TIMM44[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 77