"GeneDx"[submitter] AND "DZIP1L"[gene] - ClinVar

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Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 1801066	NM_173543.3(DZIP1L):c.2300G>A (p.Trp767Ter)	DZIP1L (W767*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1236019	NM_173543.3(DZIP1L):c.2143-104T>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259838	NM_173543.3(DZIP1L):c.2003-91A>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255184	NM_173543.3(DZIP1L):c.1933A>G (p.Lys645Glu)	DZIP1L (K645E)	Single nucleotide variant (missense variant)	Polycystic kidney disease 5 +1 more	GBenign
Select item 1291531	NM_173543.3(DZIP1L):c.1833-69_1833-67del	DZIP1L	Microsatellite (intron variant)	not provided	GBenign
Select item 1276184	NM_173543.3(DZIP1L):c.1833-154C>T	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250792	NM_173543.3(DZIP1L):c.1778G>A (p.Arg593His)	DZIP1L (R593H)	Single nucleotide variant (missense variant)	Polycystic kidney disease 5 +1 more	GBenign
Select item 1233666	NM_173543.3(DZIP1L):c.1770C>T (p.Pro590=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1233782	NM_173543.3(DZIP1L):c.1652C>T (p.Ala551Val)	DZIP1L (A551V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1255363	NM_173543.3(DZIP1L):c.1633A>G (p.Thr545Ala)	DZIP1L (T545A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1223270	NM_173543.3(DZIP1L):c.1616-73A>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294659	NM_173543.3(DZIP1L):c.1616-146A>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273403	NM_173543.3(DZIP1L):c.1615+199G>A	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235748	NM_173543.3(DZIP1L):c.1423-166G>A	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257876	NM_173543.3(DZIP1L):c.1289-94C>T	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263523	NM_173543.3(DZIP1L):c.1289-233G>A	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271645	NM_173543.3(DZIP1L):c.1288+118T>A	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294656	NM_173543.3(DZIP1L):c.1235-36A>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267851	NM_173543.3(DZIP1L):c.1204-50T>C	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255364	NM_173543.3(DZIP1L):c.961C>T (p.Arg321Trp)	DZIP1L (R321W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1222183	NM_173543.3(DZIP1L):c.870+124A>T	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283649	NM_173543.3(DZIP1L):c.709-14G>A	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801213	NM_173543.3(DZIP1L):c.621G>C (p.Glu207Asp)	DZIP1L (E207D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294662	NM_173543.3(DZIP1L):c.502-128T>G	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294668	NM_173543.3(DZIP1L):c.502-189G>A	DZIP1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313849	NM_173543.3(DZIP1L):c.256G>T (p.Val86Leu)	DZIP1L (V86L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic

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Items: 29