TOMM40[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2348572	NM_001128917.2(TOMM40):c.71G>A (p.Gly24Glu)	LOC130064656, TOMM40 (G24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244796	NM_001128917.2(TOMM40):c.128G>C (p.Ser43Thr)	LOC130064656, TOMM40 (S43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774355	NM_001128917.2(TOMM40):c.147T>G (p.Ser49Arg)	LOC130064656, TOMM40 (S49R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3328022	NM_001128917.2(TOMM40):c.172C>T (p.Pro58Ser)	LOC130064656, TOMM40 (P58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591375	NM_001128917.2(TOMM40):c.193G>T (p.Ala65Ser)	TOMM40 (A65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298680	NM_001128917.2(TOMM40):c.193G>C (p.Ala65Pro)	TOMM40 (A65P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181133	NM_001128917.2(TOMM40):c.224G>T (p.Gly75Val)	TOMM40 (G75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604264	NM_001128917.2(TOMM40):c.227G>A (p.Cys76Tyr)	TOMM40 (C76Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722423	NM_001128917.2(TOMM40):c.276G>C (p.Glu92Asp)	TOMM40 (E92D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3328023	NM_001128917.2(TOMM40):c.287T>A (p.Ile96Asn)	TOMM40 (I96N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181134	NM_001128917.2(TOMM40):c.370A>G (p.Ile124Val)	TOMM40 (I124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216217	NM_001128917.2(TOMM40):c.383A>G (p.Asn128Ser)	TOMM40 (N128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264020	NM_001128917.2(TOMM40):c.410G>A (p.Gly137Glu)	TOMM40 (G137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328024	NM_001128917.2(TOMM40):c.430A>G (p.Thr144Ala)	TOMM40 (T144A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217106	NM_001128917.2(TOMM40):c.437C>T (p.Ala146Val)	TOMM40 (A146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392637	NM_001128917.2(TOMM40):c.607G>A (p.Val203Ile)	TOMM40 (V203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591122	NM_001128917.2(TOMM40):c.634G>A (p.Val212Met)	TOMM40 (V212M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512223	NM_001128917.2(TOMM40):c.652G>A (p.Val218Ile)	TOMM40 (V218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783843	NM_001128917.2(TOMM40):c.657C>T (p.Ala219=)	TOMM40	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2284028	NM_001128917.2(TOMM40):c.748C>G (p.Leu250Val)	TOMM40 (L250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181135	NM_001128917.2(TOMM40):c.844C>T (p.Leu282=)	TOMM40	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2269244	NM_001128917.2(TOMM40):c.904G>A (p.Gly302Arg)	TOMM40 (G302R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321207	NM_001128917.2(TOMM40):c.959G>A (p.Ser320Asn)	TOMM40 (S320N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388223	NM_001128917.2(TOMM40):c.980C>T (p.Thr327Met)	TOMM40 (T327M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253776	GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3	NECTIN2, APOE +24 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 32