"Ambry Genetics"[submitter] AND "DGCR8"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2591408	NM_022720.7(DGCR8):c.43G>A (p.Ala15Thr)	DGCR8 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524568	NM_022720.7(DGCR8):c.74G>A (p.Arg25His)	DGCR8 (R25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249902	NM_022720.7(DGCR8):c.77C>G (p.Pro26Arg)	DGCR8 (P26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081862	NM_022720.7(DGCR8):c.86C>T (p.Ala29Val)	DGCR8 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592492	NM_022720.7(DGCR8):c.94C>T (p.Arg32Cys)	DGCR8 (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271696	NM_022720.7(DGCR8):c.187G>A (p.Ala63Thr)	DGCR8 (A63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546302	NM_022720.7(DGCR8):c.197C>G (p.Pro66Arg)	DGCR8 (P66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557094	NM_022720.7(DGCR8):c.209A>G (p.Tyr70Cys)	DGCR8 (Y70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569983	NM_022720.7(DGCR8):c.251G>A (p.Arg84His)	DGCR8 (R84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550780	NM_022720.7(DGCR8):c.338A>G (p.Lys113Arg)	DGCR8 (K113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271700	NM_022720.7(DGCR8):c.407T>C (p.Leu136Pro)	DGCR8 (L136P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206378	NM_022720.7(DGCR8):c.514G>T (p.Val172Leu)	DGCR8 (V172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598780	NM_022720.7(DGCR8):c.604T>G (p.Leu202Val)	DGCR8 (L202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271699	NM_022720.7(DGCR8):c.659C>T (p.Thr220Met)	DGCR8 (T220M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322545	NM_022720.7(DGCR8):c.680G>T (p.Arg227Ile)	DGCR8 (R227I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081860	NM_022720.7(DGCR8):c.821C>T (p.Pro274Leu)	DGCR8 (P274L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081861	NM_022720.7(DGCR8):c.855G>C (p.Met285Ile)	DGCR8 (M285I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257682	NM_022720.7(DGCR8):c.1100G>A (p.Ser367Asn)	DGCR8 (S367N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471254	NM_022720.7(DGCR8):c.1120G>A (p.Gly374Arg)	DGCR8 (G374R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553286	NM_022720.7(DGCR8):c.1135G>A (p.Val379Ile)	DGCR8 (V379I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522833	NM_022720.7(DGCR8):c.1167G>C (p.Glu389Asp)	DGCR8 (E389D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081857	NM_022720.7(DGCR8):c.1211C>T (p.Pro404Leu)	DGCR8 (P404L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223583	NM_022720.7(DGCR8):c.1214C>G (p.Pro405Arg)	DGCR8 (P405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271698	NM_022720.7(DGCR8):c.1237G>A (p.Ala413Thr)	DGCR8 (A413T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489793	NM_022720.7(DGCR8):c.1282G>A (p.Glu428Lys)	DGCR8 (E428K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363909	NM_022720.7(DGCR8):c.1303G>A (p.Val435Ile)	DGCR8 (V435I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081858	NM_022720.7(DGCR8):c.1339C>G (p.Arg447Gly)	DGCR8 (R447G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362582	NM_022720.7(DGCR8):c.1339C>T (p.Arg447Cys)	DGCR8 (R447C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411222	NM_022720.7(DGCR8):c.1363G>C (p.Val455Leu)	DGCR8 (V455L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340765	NM_022720.7(DGCR8):c.1417C>T (p.Arg473Trp)	DGCR8 (R473W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312209	NM_022720.7(DGCR8):c.1418G>A (p.Arg473Gln)	DGCR8 (R473Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271697	NM_022720.7(DGCR8):c.1427C>T (p.Ala476Val)	DGCR8 (A476V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561452	NM_022720.7(DGCR8):c.1433C>G (p.Ser478Cys)	DGCR8 (S478C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081859	NM_022720.7(DGCR8):c.1687C>T (p.Leu563Phe)	DGCR8 (L563F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287432	NM_022720.7(DGCR8):c.1754C>G (p.Ser585Cys)	DGCR8 (S552C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285366	NM_022720.7(DGCR8):c.1960G>C (p.Val654Leu)	DGCR8 (V621L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487873	NM_022720.7(DGCR8):c.2009G>A (p.Arg670Lys)	DGCR8 (R637K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522888	NM_022720.7(DGCR8):c.2099G>A (p.Arg700His)	DGCR8 (R667H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367397	NM_022720.7(DGCR8):c.2266T>A (p.Ser756Thr)	DGCR8 (S723T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1690603	NM_022720.7(DGCR8):c.2276C>T (p.Ala759Val)	DGCR8 (A726V +1 more)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity
Select item 2394525	NM_022720.7(DGCR8):c.2293G>A (p.Gly765Ser)	DGCR8 (G732S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

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Items: 41