"Ambry Genetics"[submitter] AND "LOC130001811"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2291545	NM_001001790.3(TOMM5):c.121+147T>C	LOC130001811, TOMM5 (C90R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365785	NM_001001790.3(TOMM5):c.121+145T>C	LOC130001811, TOMM5 (I89T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603831	NM_001001790.3(TOMM5):c.121+114C>G	LOC130001811, TOMM5 (Q79E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181138	NM_001001790.3(TOMM5):c.121+64C>T	LOC130001811, TOMM5 (T62I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370351	NM_001001790.3(TOMM5):c.121+58C>T	LOC130001811, TOMM5 (P60L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328027	NM_001001790.3(TOMM5):c.31C>A (p.Leu11Met)	LOC130001811, TOMM5 (L11M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar