"GeneDx"[submitter] AND "SLC25A35"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 1318233	NC_000017.11:g.8288380G>A	LOC130060240, RANGRF +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1317732	NC_000017.11:g.8288436TCAA[8]	LOC130060240, RANGRF +1 more	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1316068	NC_000017.11:g.8288436TCAA[6]	LOC130060240, RANGRF +1 more	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1224078	NM_001330127.1(RANGRF):c.-169C>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1292115	NM_001330127.1(RANGRF):c.-156A>G	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 392087	NM_016492.5(RANGRF):c.-45A>C	RANGRF, SLC25A35	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 392541	NM_016492.5(RANGRF):c.-19A>C	RANGRF, SLC25A35	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 1710728	NM_016492.5(RANGRF):c.-2C>T	RANGRF, SLC25A35	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 392818	NM_016492.5(RANGRF):c.27G>C (p.Leu9=)	SLC25A35, RANGRF	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 190841	NM_016492.5(RANGRF):c.52C>T (p.Leu18Phe)	RANGRF, SLC25A35 (L18F)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 392547	NM_016492.5(RANGRF):c.77+5G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia +1 more	GUncertain significance
Select item 514314	NM_016492.5(RANGRF):c.77+11C>A	SLC25A35, RANGRF	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 379871	NM_016492.5(RANGRF):c.77+19C>G	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 511840	NM_016492.5(RANGRF):c.78-20T>C	LOC130060241, RANGRF +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia +1 more	GLikely benign
Select item 241109	NM_016492.5(RANGRF):c.81C>T (p.Asp27=)	SLC25A35, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia +2 more	GBenign
Select item 190844	NM_016492.5(RANGRF):c.151C>G (p.Leu51Val)	LOC130060241, RANGRF +1 more (L51V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 543067	NM_016492.5(RANGRF):c.172G>A (p.Val58Ile)	RANGRF, SLC25A35 (V58I)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 190845	NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter)	RANGRF, SLC25A35 (E61*)	Single nucleotide variant (nonsense +3 more)	not specified +2 more	GBenign/Likely benign
Select item 234699	NM_016492.5(RANGRF):c.194+1G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 392548	NM_016492.5(RANGRF):c.194+13C>T	SLC25A35, RANGRF	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia +1 more	GLikely benign
Select item 1292499	NM_016492.5(RANGRF):c.194+17C>G	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1318360	NM_016492.5(RANGRF):c.195-86G>T	LOC130060242, RANGRF +1 more	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 515655	NM_016492.5(RANGRF):c.249G>A (p.Glu83=)	RANGRF, SLC25A35	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 190842	NM_016492.5(RANGRF):c.249G>C (p.Glu83Asp)	RANGRF, SLC25A35 (E83D)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 285529	NM_016492.5(RANGRF):c.268T>C (p.Leu90=)	LOC130060243, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	Cardiac arrhythmia +1 more	GBenign
Select item 385963	NM_016492.5(RANGRF):c.312C>G (p.Val104=)	LOC130060243, RANGRF +1 more	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 451309	NM_016492.5(RANGRF):c.342A>T (p.Glu114Asp)	RANGRF, SLC25A35 (E114D)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 389299	NM_016492.5(RANGRF):c.351+10C>T	RANGRF, SLC25A35 (R121*)	Single nucleotide variant (nonsense +3 more)	not specified	GLikely benign
Select item 190843	NM_016492.5(RANGRF):c.364G>A (p.Val122Met)	SLC25A35, RANGRF (V122M +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 138888	NM_016492.5(RANGRF):c.437+16C>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 382015	NM_016492.5(RANGRF):c.437+20C>T	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	Cardiac arrhythmia +1 more	GLikely benign
Select item 138889	NM_016492.5(RANGRF):c.510G>A (p.Gln170=)	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 508788	NM_016492.5(RANGRF):c.528C>G (p.Thr176=)	RANGRF, SLC25A35 (G271R)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 1243980	NC_000017.11:g.8290155G>A	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1226015	NC_000017.11:g.8290260G>C	RANGRF, SLC25A35	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Items: 36