"Ambry Genetics"[submitter] AND "DAGLA"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2603414	NM_006133.3(DAGLA):c.124G>A (p.Gly42Ser)	DAGLA (G42S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613288	NM_006133.3(DAGLA):c.161A>G (p.Asn54Ser)	DAGLA (N54S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596625	NM_006133.3(DAGLA):c.166G>A (p.Val56Met)	DAGLA (V56M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228771	NM_006133.3(DAGLA):c.743G>A (p.Arg248Gln)	DAGLA (R248Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616693	NM_006133.3(DAGLA):c.757G>A (p.Ala253Thr)	DAGLA (A253T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080009	NM_006133.3(DAGLA):c.769G>A (p.Glu257Lys)	DAGLA (E257K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080010	NM_006133.3(DAGLA):c.935A>G (p.Lys312Arg)	DAGLA (K312R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079999	NM_006133.3(DAGLA):c.1021A>G (p.Ile341Val)	DAGLA (I341V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270830	NM_006133.3(DAGLA):c.1022T>C (p.Ile341Thr)	DAGLA (I341T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459488	NM_006133.3(DAGLA):c.1064G>A (p.Arg355Gln)	DAGLA (R355Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367499	NM_006133.3(DAGLA):c.1167C>A (p.Asp389Glu)	DAGLA (D389E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252786	NM_006133.3(DAGLA):c.1379G>T (p.Gly460Val)	DAGLA (G460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270824	NM_006133.3(DAGLA):c.1552G>T (p.Ala518Ser)	DAGLA (A518S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080000	NM_006133.3(DAGLA):c.1733C>G (p.Ala578Gly)	DAGLA (A578G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3080001	NM_006133.3(DAGLA):c.1790C>T (p.Thr597Ile)	DAGLA (T597I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402493	NM_006133.3(DAGLA):c.2147C>T (p.Ala716Val)	DAGLA (A716V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458280	NM_006133.3(DAGLA):c.2167G>A (p.Val723Ile)	DAGLA (V723I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297884	NM_006133.3(DAGLA):c.2192T>C (p.Met731Thr)	DAGLA (M731T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270828	NM_006133.3(DAGLA):c.2251C>T (p.Arg751Cys)	DAGLA (R751C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383901	NM_006133.3(DAGLA):c.2261C>T (p.Pro754Leu)	DAGLA (P754L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328358	NM_006133.3(DAGLA):c.2282C>T (p.Ser761Phe)	DAGLA (S761F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346266	NM_006133.3(DAGLA):c.2317C>T (p.Arg773Trp)	DAGLA (R773W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346808	NM_006133.3(DAGLA):c.2318G>A (p.Arg773Gln)	DAGLA (R773Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672162	NM_006133.3(DAGLA):c.2468T>C (p.Ile823Thr)	DAGLA (I823T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3080002	NM_006133.3(DAGLA):c.2513C>T (p.Thr838Ile)	DAGLA (T838I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561017	NM_006133.3(DAGLA):c.2605C>T (p.Arg869Trp)	DAGLA (R869W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080003	NM_006133.3(DAGLA):c.2631C>A (p.Asp877Glu)	DAGLA (D877E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3080004	NM_006133.3(DAGLA):c.2674C>T (p.Arg892Cys)	DAGLA (R892C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270825	NM_006133.3(DAGLA):c.2701C>T (p.Arg901Cys)	DAGLA (R901C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3080005	NM_006133.3(DAGLA):c.2804G>A (p.Cys935Tyr)	DAGLA (C935Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080006	NM_006133.3(DAGLA):c.2809G>T (p.Val937Leu)	DAGLA (V937L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080007	NM_006133.3(DAGLA):c.2855C>T (p.Ser952Phe)	DAGLA (S952F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270829	NM_006133.3(DAGLA):c.2861G>C (p.Ser954Thr)	DAGLA (S954T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2396228	NM_006133.3(DAGLA):c.2893G>A (p.Glu965Lys)	DAGLA (E965K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257048	NM_006133.3(DAGLA):c.3011C>T (p.Thr1004Met)	DAGLA (T1004M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3080008	NM_006133.3(DAGLA):c.3017C>T (p.Thr1006Met)	DAGLA (T1006M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470714	NM_006133.3(DAGLA):c.3036A>T (p.Glu1012Asp)	DAGLA (E1012D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481945	NM_006133.3(DAGLA):c.3070C>G (p.Pro1024Ala)	DAGLA (P1024A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270831	NM_006133.3(DAGLA):c.3071C>A (p.Pro1024His)	DAGLA (P1024H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613364	NM_006133.3(DAGLA):c.3125G>C (p.Arg1042Pro)	DAGLA (R1042P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464802	NM_006133.3(DAGLA):c.3125G>T (p.Arg1042Leu)	DAGLA (R1042L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 41