TIMMDC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +190 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	ADPRH, ARGFX +199 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 1030567	NM_016589.4(TIMMDC1):c.-2C>T	TIMMDC1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex 1 deficiency, nuclear type 31	GUncertain significance
Select item 1723290	NM_016589.4(TIMMDC1):c.1A>G (p.Met1Val)	TIMMDC1 (M1V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 31	GLikely pathogenic
Select item 2015381	NM_016589.4(TIMMDC1):c.11C>A (p.Pro4Gln)	TIMMDC1 (P4Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896404	NM_016589.4(TIMMDC1):c.29G>T (p.Ser10Ile)	TIMMDC1 (S10I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2598509	NM_016589.4(TIMMDC1):c.58C>T (p.Pro20Ser)	TIMMDC1 (P20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2700882	NM_016589.4(TIMMDC1):c.72T>C (p.Ala24=)	TIMMDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3049569	NM_016589.4(TIMMDC1):c.75C>G (p.Ala25=)	TIMMDC1	Single nucleotide variant (synonymous variant)	TIMMDC1-related disorder	GLikely benign
Select item 2330928	NM_016589.4(TIMMDC1):c.91G>A (p.Asp31Asn)	TIMMDC1 (D31N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1959794	NM_016589.4(TIMMDC1):c.106GAG[1] (p.Glu37del)	TIMMDC1 (E37del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3177565	NM_016589.4(TIMMDC1):c.124C>T (p.Leu42Phe)	TIMMDC1 (L42F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2760172	NM_016589.4(TIMMDC1):c.135C>T (p.Val45=)	TIMMDC1	Single nucleotide variant (synonymous variant)	TIMMDC1-related disorder +1 more	GLikely benign
Select item 2164607	NM_016589.4(TIMMDC1):c.146A>G (p.Tyr49Cys)	TIMMDC1 (Y49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2474466	NM_016589.4(TIMMDC1):c.169C>A (p.Arg57Ser)	TIMMDC1 (R57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1033829	NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp)	TIMMDC1 (R59W)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2041934	NM_016589.4(TIMMDC1):c.176G>A (p.Arg59Gln)	TIMMDC1 (R59Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498078	NM_016589.4(TIMMDC1):c.191_192del (p.Lys64fs)	TIMMDC1 (K64fs)	Deletion (frameshift variant)	Mitochondrial complex I deficiency, nuclear type 1	GLikely pathogenic
Select item 2501222	NM_016589.4(TIMMDC1):c.194+2T>C	TIMMDC1	Single nucleotide variant (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 31	GLikely pathogenic
Select item 1933772	NM_016589.4(TIMMDC1):c.194+11C>T	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1592296	NM_016589.4(TIMMDC1):c.194+15G>T	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1930531	NM_016589.4(TIMMDC1):c.218A>G (p.Asp73Gly)	TIMMDC1 (D73G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2468556	NM_016589.4(TIMMDC1):c.223G>C (p.Ala75Pro)	TIMMDC1 (A75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1542422	NM_016589.4(TIMMDC1):c.226A>G (p.Asn76Asp)	TIMMDC1 (N76D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2181295	NM_016589.4(TIMMDC1):c.230T>C (p.Ile77Thr)	TIMMDC1 (I77T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1617951	NM_016589.4(TIMMDC1):c.232T>C (p.Cys78Arg)	TIMMDC1 (C78R)	Single nucleotide variant (missense variant)	TIMMDC1-related disorder +1 more	GBenign
Select item 1920642	NM_016589.4(TIMMDC1):c.248C>T (p.Thr83Ile)	TIMMDC1 (T83I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193198	NM_016589.4(TIMMDC1):c.260T>C (p.Ile87Thr)	TIMMDC1 (I87T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3177566	NM_016589.4(TIMMDC1):c.287C>T (p.Ala96Val)	TIMMDC1 (A96V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1912139	NM_016589.4(TIMMDC1):c.295C>T (p.His99Tyr)	TIMMDC1 (H99Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919202	NM_016589.4(TIMMDC1):c.298G>A (p.Ala100Thr)	TIMMDC1 (A100T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545427	NM_016589.4(TIMMDC1):c.310T>C (p.Tyr104His)	TIMMDC1 (Y104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614369	NM_016589.4(TIMMDC1):c.336T>G (p.Ile112Met)	TIMMDC1 (I112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1030568	NM_016589.4(TIMMDC1):c.361-5T>G	TIMMDC1	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 31	GUncertain significance
Select item 743356	NM_016589.4(TIMMDC1):c.361-4T>C	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 983214	NM_016589.4(TIMMDC1):c.385C>T (p.Arg129Ter)	TIMMDC1 (R129*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1913100	NM_016589.4(TIMMDC1):c.391T>C (p.Phe131Leu)	TIMMDC1 (F131L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258021	NM_016589.4(TIMMDC1):c.398G>A (p.Arg133His)	TIMMDC1 (R133H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177567	NM_016589.4(TIMMDC1):c.401A>T (p.Tyr134Phe)	TIMMDC1 (Y134F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691015	NM_016589.4(TIMMDC1):c.410G>A (p.Arg137His)	TIMMDC1 (R137H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2995754	NM_016589.4(TIMMDC1):c.429A>G (p.Ala143=)	TIMMDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621743	NM_016589.4(TIMMDC1):c.438G>C (p.Val146=)	TIMMDC1	Single nucleotide variant (synonymous variant)	TIMMDC1-related disorder +1 more	GBenign
Select item 2959098	NM_016589.4(TIMMDC1):c.450-14_450-12del	TIMMDC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 749691	NM_016589.4(TIMMDC1):c.481A>G (p.Asn161Asp)	TIMMDC1 (N161D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2305134	NM_016589.4(TIMMDC1):c.482A>G (p.Asn161Ser)	TIMMDC1 (N161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239488	NM_016589.4(TIMMDC1):c.491C>G (p.Ala164Gly)	TIMMDC1 (A164G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1949103	NM_016589.4(TIMMDC1):c.498C>T (p.Ser166=)	TIMMDC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2788809	NM_016589.4(TIMMDC1):c.517+12T>G	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899983	NM_016589.4(TIMMDC1):c.517+18A>G	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925961	NM_016589.4(TIMMDC1):c.518-12G>C	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3177568	NM_016589.4(TIMMDC1):c.518C>G (p.Ala173Gly)	TIMMDC1 (A173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 807710	NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met)	TIMMDC1 (T175M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2021151	NM_016589.4(TIMMDC1):c.536T>G (p.Phe179Cys)	TIMMDC1 (F179C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054312	NM_016589.4(TIMMDC1):c.540G>T (p.Arg180Ser)	TIMMDC1 (R180S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3039255	NM_016589.4(TIMMDC1):c.546C>T (p.Asn182=)	TIMMDC1	Single nucleotide variant (synonymous variant)	TIMMDC1-related disorder	GLikely benign
Select item 2171277	NM_016589.4(TIMMDC1):c.547G>A (p.Val183Ile)	TIMMDC1 (V183I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160515	NM_016589.4(TIMMDC1):c.557G>A (p.Arg186His)	TIMMDC1 (R186H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023460	NM_016589.4(TIMMDC1):c.574G>A (p.Gly192Ser)	TIMMDC1 (G192S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030569	NM_016589.4(TIMMDC1):c.578T>C (p.Ile193Thr)	TIMMDC1 (I193T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1709036	NM_016589.4(TIMMDC1):c.596+1del	TIMMDC1	Deletion (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 31	GLikely pathogenic
Select item 1958112	NM_016589.4(TIMMDC1):c.596+7A>G	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296855	NM_016589.4(TIMMDC1):c.597-1458C>T	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429020	NM_016589.4(TIMMDC1):c.597-1340A>G	TIMMDC1	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 31 +1 more	GPathogenic
Select item 1342212	NM_016589.4(TIMMDC1):c.597-35G>T	TIMMDC1	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 31	GBenign
Select item 1974487	NM_016589.4(TIMMDC1):c.597-5C>T	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 809523	NM_016589.4(TIMMDC1):c.598A>G (p.Thr200Ala)	TIMMDC1 (T200A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1957293	NM_016589.4(TIMMDC1):c.609A>C (p.Gly203=)	TIMMDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949874	NM_016589.4(TIMMDC1):c.615G>C (p.Leu205=)	TIMMDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542433	NM_016589.4(TIMMDC1):c.649G>A (p.Val217Ile)	TIMMDC1 (V217I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1049713	NM_016589.4(TIMMDC1):c.658A>G (p.Arg220Gly)	TIMMDC1 (R220G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020885	NM_016589.4(TIMMDC1):c.662A>T (p.Lys221Ile)	TIMMDC1 (K221I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2366929	NM_016589.4(TIMMDC1):c.665A>G (p.Gln222Arg)	TIMMDC1 (Q222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 548447	NM_016589.4(TIMMDC1):c.673C>T (p.Arg225Ter)	TIMMDC1 (R225*)	Single nucleotide variant (nonsense)	Leigh syndrome	GUncertain significance
Select item 1033830	NM_016589.4(TIMMDC1):c.674G>A (p.Arg225Gln)	TIMMDC1 (R225Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3177569	NM_016589.4(TIMMDC1):c.686A>G (p.His229Arg)	TIMMDC1 (H229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760041	NM_016589.4(TIMMDC1):c.687T>C (p.His229=)	TIMMDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1566242	NM_016589.4(TIMMDC1):c.705G>A (p.Glu235=)	TIMMDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1703278	NM_016589.4(TIMMDC1):c.707G>A (p.Trp236Ter)	TIMMDC1 (W236*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1334859	NM_016589.4(TIMMDC1):c.707G>T (p.Trp236Leu)	TIMMDC1 (W236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1601416	NM_016589.4(TIMMDC1):c.707+11T>C	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1667219	NM_016589.4(TIMMDC1):c.707+17G>A	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1911837	NM_016589.4(TIMMDC1):c.707+18C>G	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898272	NM_016589.4(TIMMDC1):c.708-11T>C	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601579	NM_016589.4(TIMMDC1):c.708-10C>T	TIMMDC1	Single nucleotide variant (intron variant)	TIMMDC1-related disorder +1 more	GBenign
Select item 1384827	NM_016589.4(TIMMDC1):c.734A>G (p.His245Arg)	TIMMDC1 (H245R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2077423	NM_016589.4(TIMMDC1):c.740del (p.Pro247fs)	TIMMDC1 (P247fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2146905	NM_016589.4(TIMMDC1):c.739C>T (p.Pro247Ser)	TIMMDC1 (P247S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895774	NM_016589.4(TIMMDC1):c.743A>C (p.Glu248Ala)	TIMMDC1 (E248A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033831	NM_016589.4(TIMMDC1):c.745A>G (p.Lys249Glu)	TIMMDC1 (K249E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1709042	NM_016589.4(TIMMDC1):c.751G>T (p.Glu251Ter)	TIMMDC1 (E251*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 31	GUncertain significance

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