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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3080147	NM_001351.4(DAZL):c.822T>A (p.Asp274Glu)	DAZL (D274E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216230	NM_001351.4(DAZL):c.749G>A (p.Arg250Gln)	DAZL (R250Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495356	NM_001351.4(DAZL):c.725G>A (p.Gly242Asp)	DAZL (G242D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535810	NM_001351.4(DAZL):c.698A>G (p.His233Arg)	DAZL (H253R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543260	NM_001351.4(DAZL):c.662C>T (p.Pro221Leu)	DAZL (P241L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589913	NM_001351.4(DAZL):c.643C>A (p.His215Asn)	DAZL (H215N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270915	NM_001351.4(DAZL):c.602G>A (p.Arg201Lys)	DAZL (R201K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458944	NM_001351.4(DAZL):c.577C>T (p.Pro193Ser)	DAZL (P213S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604485	NM_001351.4(DAZL):c.571A>T (p.Met191Leu)	DAZL (M191L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591883	NM_001351.4(DAZL):c.548A>G (p.Gln183Arg)	DAZL (Q183R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294932	NM_001351.4(DAZL):c.532G>T (p.Val178Phe)	DAZL (V178F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617159	NM_001351.4(DAZL):c.494T>C (p.Val165Ala)	DAZL (V165A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307113	NM_001351.4(DAZL):c.435T>G (p.Asn145Lys)	DAZL (N165K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080146	NM_001351.4(DAZL):c.398A>G (p.His133Arg)	DAZL (H133R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211053	NM_001351.4(DAZL):c.395A>G (p.Asn132Ser)	DAZL (N152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080145	NM_001351.4(DAZL):c.304A>C (p.Asn102His)	DAZL (N122H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080144	NM_001351.4(DAZL):c.185G>A (p.Arg62Lys)	DAZL (R82K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270914	NM_001351.4(DAZL):c.14A>G (p.Asn5Ser)	DAZL (N5S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598497	NM_001351.4(DAZL):c.7A>G (p.Thr3Ala)	DAZL (T3A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign