"Ambry Genetics"[submitter] AND "DNASE1L1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2288212	NM_001303620.2(DNASE1L1):c.685G>A (p.Val229Ile)	DNASE1L1 (V229I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408944	NM_001303620.2(DNASE1L1):c.580C>T (p.Arg194Cys)	DNASE1L1 (R194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512583	NM_001303620.2(DNASE1L1):c.526G>A (p.Asp176Asn)	DNASE1L1 (D176N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623973	NM_001303620.2(DNASE1L1):c.138A>G (p.Ile46Met)	DNASE1L1 (I46M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282801	NM_001303620.2(DNASE1L1):c.123C>A (p.Asp41Glu)	DNASE1L1 (D41E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598121	NM_001303620.2(DNASE1L1):c.19C>T (p.Leu7Phe)	DNASE1L1 (L7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	TAFAZZIN, DNASE1L1 +1 more (V5L)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 840746	NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)	LOC130068869, TAFAZZIN +1 more (F9L)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +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)	3-Methylglutaconic aciduria type 2 +1 more	GUncertain significance
Select item 42260	NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1799824	NM_000116.5(TAFAZZIN):c.55C>T (p.Leu19=)	DNASE1L1, LOC130068869 +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)	Cardiovascular phenotype +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
Select item 1800002	NM_000116.5(TAFAZZIN):c.111G>A (p.Lys37=)	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype	GLikely benign