TMTC2[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 3180049	NM_152588.3(TMTC2):c.32G>T (p.Gly11Val)	TMTC2 (G11V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545430	NM_152588.3(TMTC2):c.37G>A (p.Ala13Thr)	TMTC2 (A13T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 748483	NM_152588.3(TMTC2):c.54C>T (p.Thr18=)	TMTC2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2281355	NM_152588.3(TMTC2):c.74A>G (p.Tyr25Cys)	TMTC2 (Y25C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 151285	GRCh38/hg38 12q21.31(chr12:82697865-82746258)x1	TMTC2	Copy number loss	See cases	GBenign
Select item 147848	GRCh38/hg38 12q21.31(chr12:82771954-83812649)x3	LOC126861586, LOC126861587 +1 more	Copy number gain	See cases	GBenign
Select item 157259	NM_001320322.1(TMTC2):c.84-78853_84-44447del	TMTC2	Deletion	Small for gestational age	Gnot provided
Select item 3327400	NM_152588.3(TMTC2):c.85C>T (p.Arg29Cys)	TMTC2 (R29C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411067	NM_152588.3(TMTC2):c.146A>G (p.Asn49Ser)	TMTC2 (N49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540989	NM_152588.3(TMTC2):c.196C>T (p.Arg66Trp)	TMTC2 (R66W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549997	NM_152588.3(TMTC2):c.197G>A (p.Arg66Gln)	TMTC2 (R66Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225692	NM_152588.3(TMTC2):c.301C>T (p.Leu101Phe)	TMTC2 (L101F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180050	NM_152588.3(TMTC2):c.389C>T (p.Thr130Met)	TMTC2 (T130M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591837	NM_152588.3(TMTC2):c.400G>T (p.Ala134Ser)	TMTC2 (A134S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366001	NM_152588.3(TMTC2):c.466A>G (p.Ile156Val)	TMTC2 (I156V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228933	NM_152588.3(TMTC2):c.503C>G (p.Thr168Ser)	TMTC2 (T168S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606967	NM_152588.3(TMTC2):c.572C>T (p.Thr191Ile)	TMTC2 (T191I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205350	NM_152588.3(TMTC2):c.602T>C (p.Val201Ala)	TMTC2 (V201A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480409	NM_152588.3(TMTC2):c.616A>T (p.Arg206Trp)	TMTC2 (R206W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327401	NM_152588.3(TMTC2):c.797T>C (p.Leu266Pro)	TMTC2 (L266P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707900	NM_152588.3(TMTC2):c.832A>G (p.Thr278Ala)	TMTC2 (T278A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3054671	NM_152588.3(TMTC2):c.908A>G (p.Lys303Arg)	TMTC2 (K303R +1 more)	Single nucleotide variant (missense variant)	TMTC2-related disorder	GLikely benign
Select item 2368825	NM_152588.3(TMTC2):c.950A>C (p.Tyr317Ser)	TMTC2 (Y317S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243903	NM_152588.3(TMTC2):c.950A>G (p.Tyr317Cys)	TMTC2 (Y317C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053457	NM_152588.3(TMTC2):c.1041G>T (p.Gln347His)	TMTC2 (Q102H +1 more)	Single nucleotide variant (missense variant)	TMTC2-related disorder	GLikely benign
Select item 2306085	NM_152588.3(TMTC2):c.1079A>G (p.Tyr360Cys)	TMTC2 (Y360C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610167	NM_152588.3(TMTC2):c.1096A>C (p.Lys366Gln)	TMTC2 (K121Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295173	NM_152588.3(TMTC2):c.1133A>T (p.Lys378Ile)	TMTC2 (K133I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229744	NM_152588.3(TMTC2):c.1157A>G (p.Gln386Arg)	TMTC2 (Q141R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327399	NM_152588.3(TMTC2):c.1158G>T (p.Gln386His)	TMTC2 (Q141H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363582	NM_152588.3(TMTC2):c.1163C>G (p.Pro388Arg)	TMTC2 (P143R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180039	NM_152588.3(TMTC2):c.1256T>C (p.Ile419Thr)	TMTC2 (I174T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257495	NM_152588.3(TMTC2):c.1394T>C (p.Phe465Ser)	TMTC2 (F465S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224558	NM_152588.3(TMTC2):c.1412C>T (p.Ala471Val)	TMTC2 (A471V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327402	NM_152588.3(TMTC2):c.1459G>C (p.Gly487Arg)	TMTC2 (G242R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327397	NM_152588.3(TMTC2):c.1468G>A (p.Val490Ile)	TMTC2 (V490I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327398	NM_152588.3(TMTC2):c.1661T>C (p.Ile554Thr)	TMTC2 (I309T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180041	NM_152588.3(TMTC2):c.1667G>A (p.Ser556Asn)	TMTC2 (S556N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393435	NM_152588.3(TMTC2):c.1745G>A (p.Arg582Gln)	TMTC2 (R582Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180042	NM_152588.3(TMTC2):c.1795C>T (p.His599Tyr)	TMTC2 (H599Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246094	NM_152588.3(TMTC2):c.1816A>G (p.Thr606Ala)	TMTC2 (T361A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180043	NM_152588.3(TMTC2):c.1885T>A (p.Tyr629Asn)	TMTC2 (Y384N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510295	NM_152588.3(TMTC2):c.1891G>A (p.Glu631Lys)	TMTC2 (E631K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180044	NM_152588.3(TMTC2):c.1939A>G (p.Asn647Asp)	TMTC2 (N647D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152630	GRCh38/hg38 12q21.31(chr12:82970882-82994642)x4	TMTC2	Copy number gain	See cases	GLikely benign
Select item 2393125	NM_152588.3(TMTC2):c.1963C>T (p.Arg655Cys)	TMTC2 (R410C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559471	NM_152588.3(TMTC2):c.1972A>G (p.Lys658Glu)	TMTC2 (K658E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554742	NM_152588.3(TMTC2):c.1981G>A (p.Glu661Lys)	TMTC2 (E661K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407064	NM_152588.3(TMTC2):c.2075G>A (p.Arg692His)	TMTC2 (R692H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371271	NM_152588.3(TMTC2):c.2080A>T (p.Ser694Cys)	TMTC2 (S449C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247966	NM_152588.3(TMTC2):c.2176C>T (p.Arg726Cys)	TMTC2 (R481C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180046	NM_152588.3(TMTC2):c.2183T>C (p.Ile728Thr)	TMTC2 (I728T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327405	NM_152588.3(TMTC2):c.2223C>G (p.Asp741Glu)	TMTC2 (D496E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403934	NM_152588.3(TMTC2):c.2288C>A (p.Ala763Glu)	TMTC2 (A763E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180047	NM_152588.3(TMTC2):c.2336C>T (p.Pro779Leu)	TMTC2 (P534L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364167	NM_152588.3(TMTC2):c.2402A>G (p.Asn801Ser)	TMTC2 (N556S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773663	NM_152588.3(TMTC2):c.2433C>T (p.Asp811=)	TMTC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2454295	NM_152588.3(TMTC2):c.2434G>A (p.Asp812Asn)	TMTC2 (D567N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180048	NM_152588.3(TMTC2):c.2441T>C (p.Ile814Thr)	TMTC2 (I814T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2685441	GRCh37/hg19 12q21.31(chr12:80647969-85713707)x1	ACSS3, ALX1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2685054	GRCh37/hg19 12q21.31(chr12:82424439-83222097)x4	CCDC59, METTL25 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980445	GRCh37/hg19 12q21.31(chr12:83109540-83368867)x1	TMTC2	Copy number loss	not provided	GLikely benign
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 625562	GRCh37/hg19 12q21.31-21.32(chr12:82183041-88755577)	ALX1, C12orf29 +12 more	Copy number gain	not provided	GPathogenic
Select item 563975	GRCh37/hg19 12q21.31(chr12:83463371-84884498)x1	TMTC2	Copy number loss	not provided	GLikely benign
Select item 547137	GRCh37/hg19 12q21.31(chr12:83266252-86018250)x3	ALX1, LRRIQ1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 73