"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TIMM50"[ge - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2649838	NM_001001563.3(TIMM50):c.223C>T (p.Leu75Phe)	TIMM50 (L75F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461189	NC_000019.10:g.39480780C>T	TIMM50	Single nucleotide variant	not provided	GUncertain significance
Select item 1571717	NC_000019.10:g.39480796C>T	TIMM50	Single nucleotide variant	not provided	GLikely benign
Select item 2498779	NM_001001563.5(TIMM50):c.108+20C>T	TIMM50	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2578827	NM_001001563.5(TIMM50):c.108+60A>G	TIMM50	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1135669	NM_001001563.5(TIMM50):c.167G>C (p.Gly56Ala)	TIMM50 (G56A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1593719	NM_001001563.5(TIMM50):c.217C>T (p.Leu73=)	TIMM50	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1475910	NM_001001563.5(TIMM50):c.447G>A (p.Thr149=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1112995	NM_001001563.5(TIMM50):c.600T>G (p.Thr200=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183364	NM_001001563.5(TIMM50):c.603G>A (p.Ala201=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659512	NM_001001563.5(TIMM50):c.630C>T (p.Pro210=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1169242	NM_001001563.5(TIMM50):c.1014C>T (p.Phe338=)	TIMM50	Single nucleotide variant (synonymous variant)	not provided	GBenign