ClinVar for Gene (Select 57458) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326573	NM_020698.4(TMCC3):c.507T>G (p.Asp169Glu)	TMCC3 (D138E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326572	NM_020698.4(TMCC3):c.1357G>A (p.Val453Met)	TMCC3 (V453M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178295	NM_020698.4(TMCC3):c.803A>G (p.Asn268Ser)	TMCC3 (N237S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178294	NM_020698.4(TMCC3):c.656A>T (p.Asn219Ile)	TMCC3 (N188I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178293	NM_020698.4(TMCC3):c.602A>G (p.Asn201Ser)	TMCC3 (N201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178291	NM_020698.4(TMCC3):c.354G>T (p.Lys118Asn)	TMCC3 (K118N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178290	NM_020698.4(TMCC3):c.124C>G (p.Arg42Gly)	TMCC3 (R11G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681611	NM_020698.4(TMCC3):c.717C>T (p.Tyr239=)	TMCC3	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2624161	NM_020698.4(TMCC3):c.386T>C (p.Leu129Pro)	TMCC3 (L129P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622557	NM_020698.4(TMCC3):c.1118C>T (p.Ser373Leu)	TMCC3 (S342L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616405	NM_020698.4(TMCC3):c.833C>T (p.Ala278Val)	TMCC3 (A247V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613932	NM_020698.4(TMCC3):c.370C>T (p.His124Tyr)	TMCC3 (H124Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608792	NM_020698.4(TMCC3):c.359A>G (p.Gln120Arg)	TMCC3 (Q120R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555981	NM_020698.4(TMCC3):c.263C>T (p.Ser88Leu)	TMCC3 (S57L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536664	NM_020698.4(TMCC3):c.1237A>G (p.Arg413Gly)	TMCC3 (R413G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535475	NM_020698.4(TMCC3):c.1375T>C (p.Phe459Leu)	TMCC3 (F459L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515223	NM_020698.4(TMCC3):c.94A>G (p.Met32Val)	TMCC3 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513414	NM_020698.4(TMCC3):c.733A>G (p.Ile245Val)	TMCC3 (I214V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487518	NM_020698.4(TMCC3):c.317A>T (p.Gln106Leu)	TMCC3 (Q75L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455953	NM_020698.4(TMCC3):c.1178A>G (p.His393Arg)	TMCC3 (H362R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455475	NM_020698.4(TMCC3):c.322G>A (p.Ala108Thr)	TMCC3 (A77T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392626	NM_020698.4(TMCC3):c.449G>T (p.Arg150Met)	TMCC3 (R119M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391073	NM_020698.4(TMCC3):c.1156C>T (p.Arg386Cys)	TMCC3 (R355C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386067	NM_020698.4(TMCC3):c.328C>G (p.Arg110Gly)	TMCC3 (R110G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384732	NM_020698.4(TMCC3):c.60C>G (p.His20Gln)	TMCC3 (H20Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316013	NM_020698.4(TMCC3):c.64C>T (p.Arg22Cys)	TMCC3 (R22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300059	NM_020698.4(TMCC3):c.1004G>A (p.Arg335Gln)	TMCC3 (R304Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289237	NM_020698.4(TMCC3):c.71A>G (p.Lys24Arg)	TMCC3 (K24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276290	NM_020698.4(TMCC3):c.484G>A (p.Asp162Asn)	TMCC3 (D162N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266034	NM_020698.4(TMCC3):c.542T>C (p.Met181Thr)	TMCC3 (M181T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212048	NM_020698.4(TMCC3):c.1157G>A (p.Arg386His)	TMCC3 (R355H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209992	NM_020698.4(TMCC3):c.380C>T (p.Ala127Val)	TMCC3 (A96V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801765	NM_020698.4(TMCC3):c.1149C>A (p.Cys383Ter)	TMCC3 (C352* +1 more)	Single nucleotide variant (nonsense)	Myoepithelial tumor	GUncertain significance
Select item 783669	NM_020698.4(TMCC3):c.564G>A (p.Met188Ile)	TMCC3 (M188I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780149	NM_020698.4(TMCC3):c.513C>T (p.His171=)	TMCC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
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 149680	GRCh38/hg38 12q21.33-22(chr12:90996508-94872818)x1	LINC02397, LINC02404 +169 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 41