TRMT10C[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 2722726	NM_017819.4(TRMT10C):c.28A>G (p.Ser10Gly)	TRMT10C (S10G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903820	NM_017819.4(TRMT10C):c.36T>A (p.Asn12Lys)	TRMT10C (N12K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100078	NM_017819.4(TRMT10C):c.46C>T (p.Pro16Ser)	TRMT10C (P16S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2601196	NM_017819.4(TRMT10C):c.70T>C (p.Phe24Leu)	TRMT10C (F24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2835468	NM_017819.4(TRMT10C):c.79C>T (p.His27Tyr)	TRMT10C (H27Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404011	NM_017819.4(TRMT10C):c.80A>G (p.His27Arg)	TRMT10C (H27R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2094679	NM_017819.4(TRMT10C):c.89G>A (p.Arg30Lys)	TRMT10C (R30K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2221990	NM_017819.4(TRMT10C):c.103A>G (p.Ile35Val)	TRMT10C (I35V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1408557	NM_017819.4(TRMT10C):c.163A>G (p.Thr55Ala)	TRMT10C (T55A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 671432	NM_017819.4(TRMT10C):c.167C>G (p.Pro56Arg)	TRMT10C (P56R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1985029	NM_017819.4(TRMT10C):c.169C>G (p.Pro57Ala)	TRMT10C (P57A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559473	NM_017819.4(TRMT10C):c.170C>G (p.Pro57Arg)	TRMT10C (P57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409976	NM_017819.4(TRMT10C):c.170C>T (p.Pro57Leu)	TRMT10C (P57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2777205	NM_017819.4(TRMT10C):c.215C>G (p.Ser72Cys)	TRMT10C (S72C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951477	NM_017819.4(TRMT10C):c.224A>C (p.Gln75Pro)	TRMT10C (Q75P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3182995	NM_017819.4(TRMT10C):c.233G>A (p.Cys78Tyr)	TRMT10C (C78Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595922	NM_017819.4(TRMT10C):c.266A>G (p.Asp89Gly)	TRMT10C (D89G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654011	NM_017819.4(TRMT10C):c.273A>G (p.Leu91=)	TRMT10C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014625	NM_017819.4(TRMT10C):c.325C>T (p.Pro109Ser)	TRMT10C (P109S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316844	NM_017819.4(TRMT10C):c.414G>A (p.Thr138=)	TRMT10C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529656	NM_017819.4(TRMT10C):c.424G>A (p.Val142Met)	TRMT10C (V142M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 377049	NM_017819.4(TRMT10C):c.492G>C (p.Lys164Asn)	TRMT10C (K164N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 737603	NM_017819.4(TRMT10C):c.494T>A (p.Leu165Gln)	TRMT10C (L165Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3052175	NM_017819.4(TRMT10C):c.504C>T (p.Thr168=)	TRMT10C	Single nucleotide variant (synonymous variant)	TRMT10C-related disorder	GLikely benign
Select item 2111644	NM_017819.4(TRMT10C):c.525A>G (p.Lys175=)	TRMT10C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224316	NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu)	TRMT10C (R181L)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 1545230	NM_017819.4(TRMT10C):c.558T>C (p.Asn186=)	TRMT10C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2218117	NM_017819.4(TRMT10C):c.643A>G (p.Met215Val)	TRMT10C (M215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1605522	NM_017819.4(TRMT10C):c.696A>G (p.Gly232=)	TRMT10C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654012	NM_017819.4(TRMT10C):c.759T>G (p.Ala253=)	TRMT10C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1802196	NM_017819.4(TRMT10C):c.775_778del (p.Val259fs)	TRMT10C (V259fs)	Microsatellite (frameshift variant)	Combined oxidative phosphorylation defect type 30 +2 more	GConflicting classifications of pathogenicity
Select item 2295608	NM_017819.4(TRMT10C):c.788A>G (p.Gln263Arg)	TRMT10C (Q263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 793474	NM_017819.4(TRMT10C):c.789A>G (p.Gln263=)	TRMT10C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224317	NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala)	TRMT10C (T272A)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 30 +1 more	GPathogenic
Select item 3182996	NM_017819.4(TRMT10C):c.824A>G (p.Glu275Gly)	TRMT10C (E275G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2048508	NM_017819.4(TRMT10C):c.848C>T (p.Pro283Leu)	TRMT10C (P283L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713376	NM_017819.4(TRMT10C):c.866A>G (p.Tyr289Cys)	TRMT10C (Y289C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382996	NM_017819.4(TRMT10C):c.932C>A (p.Ser311Tyr)	TRMT10C (S311Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2517976	NM_017819.4(TRMT10C):c.950T>G (p.Met317Arg)	TRMT10C (M317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403201	NM_017819.4(TRMT10C):c.950T>C (p.Met317Thr)	TRMT10C (M317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353886	NM_017819.4(TRMT10C):c.963A>T (p.Thr321=)	TRMT10C	Single nucleotide variant (synonymous variant)	TRMT10C-related disorder	GLikely benign
Select item 3046855	NM_017819.4(TRMT10C):c.990C>T (p.Asn330=)	TRMT10C	Single nucleotide variant (synonymous variant)	TRMT10C-related disorder	GLikely benign
Select item 2190326	NM_017819.4(TRMT10C):c.1015G>C (p.Asp339His)	TRMT10C (D339H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2526755	NM_017819.4(TRMT10C):c.1072C>T (p.Arg358Cys)	TRMT10C (R358C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234901	NM_017819.4(TRMT10C):c.1091A>G (p.Lys364Arg)	TRMT10C (K364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2080688	NM_017819.4(TRMT10C):c.1097A>G (p.Asn366Ser)	TRMT10C (N366S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3182993	NM_017819.4(TRMT10C):c.1100G>A (p.Gly367Asp)	TRMT10C (G367D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724394	NM_017819.4(TRMT10C):c.1122A>G (p.Gln374=)	TRMT10C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716751	NM_017819.4(TRMT10C):c.1125C>T (p.Phe375=)	TRMT10C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3329063	NM_017819.4(TRMT10C):c.1165C>G (p.Gln389Glu)	TRMT10C (Q389E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1251426	NM_017819.4(TRMT10C):c.*103T>C	TRMT10C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3247040	NC_000003.11:g.(?_99509527)_(101484395_?)del	ABI3BP, ADGRG7 +16 more	Deletion	not provided	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3062674	GRCh37/hg19 3q12.2-13.11(chr3:100369522-104621416)x1	ABI3BP, ADGRG7 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527033	GRCh37/hg19 3q12.3(chr3:101191611-101938521)	CEP97, NFKBIZ +6 more	Copy number gain	not specified	GUncertain significance
Select item 1499296	NC_000003.11:g.(?_100945813)_(101284837_?)dup	IMPG2, SENP7 +1 more	Duplication	not provided	GUncertain significance
Select item 1446657	NC_000003.11:g.(?_101283626)_(101284837_?)dup	TRMT10C	Duplication	not provided	GUncertain significance
Select item 1423156	NC_000003.11:g.(?_100945813)_(101484395_?)del	CEP97, IMPG2 +5 more	Deletion	not provided	GPathogenic
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 67