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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691831	NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)	DNASE1L1, LOC130068869 +1 more (P10R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 11101	NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)	TAFAZZIN (Y51* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 807867	NM_000116.5(TAFAZZIN):c.249A>G (p.Lys83=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 653322	NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)	TAFAZZIN (R112H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2661806	NM_000116.5(TAFAZZIN):c.284+28G>A	TAFAZZIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2661807	NM_000116.5(TAFAZZIN):c.284+36C>T	TAFAZZIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2661808	NM_000116.5(TAFAZZIN):c.461-979C>T	TAFAZZIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1879779	NM_000116.5(TAFAZZIN):c.542-2A>T	TAFAZZIN	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 11105	NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)	TAFAZZIN (G197R +4 more)	Single nucleotide variant (missense variant +1 more)	TAFAZZIN-Related Disorders +2 more	GPathogenic
Select item 177789	NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	TAFAZZIN-related condition +4 more	GLikely benign
Select item 807868	NM_000116.5(TAFAZZIN):c.774_777+1dup	TAFAZZIN	Duplication (splice donor variant)	not provided	GLikely pathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic