"Ambry Genetics"[submitter] AND "LOC130068869"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1799629	NM_000116.5(TAFAZZIN):c.-4G>A	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 42253	NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)	DNASE1L1, LOC130068869 +1 more (V5L)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2 +3 more	GUncertain significance
Select item 840746	NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)	TAFAZZIN, DNASE1L1 +1 more (F9L)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2 +1 more	GUncertain significance
Select item 1799627	NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)	DNASE1L1, LOC130068869 +1 more (P13S)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 42260	NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)	TAFAZZIN, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GLikely benign
Select item 1799824	NM_000116.5(TAFAZZIN):c.55C>T (p.Leu19=)	TAFAZZIN, DNASE1L1 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1800135	NM_000116.5(TAFAZZIN):c.67G>A (p.Val23Ile)	DNASE1L1, LOC130068869 +1 more (V23I)	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 462144	NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2 +2 more	GLikely benign
Select item 697651	NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2 +2 more	GLikely benign
Select item 1800452	NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2 +1 more	GLikely benign