"GeneDx"[submitter] AND "TFAM"[gene] - ClinVar

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Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 1317763	NC_000010.11:g.58384847G>A	TFAM	Single nucleotide variant	not provided	GLikely benign
Select item 684175	NM_003201.2(TFAM):c.-424C>T	TFAM	Single nucleotide variant	not provided	GBenign
Select item 1317995	NC_000010.11:g.58385197C>T	TFAM	Single nucleotide variant	not provided	GLikely benign
Select item 669576	NM_003201.2(TFAM):c.-310C>A	TFAM	Single nucleotide variant	not provided	GBenign
Select item 673276	NM_003201.2(TFAM):c.-256T>G	TFAM	Single nucleotide variant	not provided	GBenign
Select item 684177	NM_003201.2(TFAM):c.-229A>G	TFAM	Single nucleotide variant	not provided	GBenign
Select item 1318234	NM_003201.3(TFAM):c.-50A>G	TFAM	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 670994	NM_003201.3(TFAM):c.35G>C (p.Ser12Thr)	TFAM (S12T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 684179	NM_003201.3(TFAM):c.101+189G>C	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318157	NM_003201.3(TFAM):c.102-206A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243323	NM_003201.3(TFAM):c.102-185T>A	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316730	NM_003201.3(TFAM):c.102-165C>T	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247413	NM_003201.3(TFAM):c.102-134_102-133del	TFAM	Microsatellite (intron variant)	not provided	GBenign
Select item 669577	NM_003201.3(TFAM):c.183T>C (p.Ser61=)	TFAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1317894	NM_003201.3(TFAM):c.221-174A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684187	NM_003201.3(TFAM):c.221-166G>A	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672912	NM_003201.3(TFAM):c.221-16T>C	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317997	NM_003201.3(TFAM):c.291+85C>A	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223044	NM_003201.3(TFAM):c.292-9dup	TFAM	Duplication (intron variant)	not provided	GBenign
Select item 1316810	NM_003201.3(TFAM):c.315G>A (p.Ala105=)	TFAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 684189	NM_003201.3(TFAM):c.441+113A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684190	NM_003201.3(TFAM):c.441+172A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232792	NM_003201.3(TFAM):c.441+214A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317583	NM_003201.3(TFAM):c.442-282G>T	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316732	NM_003201.3(TFAM):c.442-234G>T	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264574	NM_003201.3(TFAM):c.442-80A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320584	NM_003201.3(TFAM):c.534G>A (p.Pro178=)	TFAM	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1316729	NM_003201.3(TFAM):c.538-288A>C	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669578	NM_003201.3(TFAM):c.594+12G>A	TFAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318277	NM_003201.3(TFAM):c.594+33A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318257	NM_003201.3(TFAM):c.595-29A>G	TFAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3252431	NM_003201.3(TFAM):c.692T>C (p.Leu231Pro)	TFAM (L199P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 709696	NM_003201.3(TFAM):c.723T>C (p.Tyr241=)	TFAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1245159	NM_003201.3(TFAM):c.*286G>T	TFAM	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Items: 35