"DZIP1L-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2157128	NM_173543.3(DZIP1L):c.2288G>C (p.Arg763Thr)	DZIP1L (R763T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 722788	NM_173543.3(DZIP1L):c.2284C>T (p.Pro762Ser)	DZIP1L (P762S)	Single nucleotide variant (missense variant)	DZIP1L-related disorder +1 more	GBenign/Likely benign
Select item 775910	NM_173543.3(DZIP1L):c.2233C>T (p.Arg745Cys)	DZIP1L (R745C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1927382	NM_173543.3(DZIP1L):c.2214G>A (p.Glu738=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1462795	NM_173543.3(DZIP1L):c.2194C>T (p.Leu732=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related disorder +1 more	GLikely benign
Select item 3049535	NM_173543.3(DZIP1L):c.2097C>T (p.Pro699=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related disorder	GLikely benign
Select item 3048613	NM_173543.3(DZIP1L):c.2040G>A (p.Lys680=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related disorder	GLikely benign
Select item 2057997	NM_173543.3(DZIP1L):c.2003-10C>A	DZIP1L	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1375766	NM_173543.3(DZIP1L):c.1927C>T (p.Arg643Trp)	DZIP1L (R643W)	Single nucleotide variant (missense variant)	DZIP1L-related disorder +1 more	GUncertain significance
Select item 3054762	NM_173543.3(DZIP1L):c.1836G>T (p.Thr612=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related disorder	GLikely benign
Select item 2180314	NM_173543.3(DZIP1L):c.1833-7G>A	DZIP1L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2176458	NM_173543.3(DZIP1L):c.1833-8C>T	DZIP1L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 711901	NM_173543.3(DZIP1L):c.1770C>A (p.Pro590=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2199852	NM_173543.3(DZIP1L):c.1739A>G (p.His580Arg)	DZIP1L (H580R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1533910	NM_173543.3(DZIP1L):c.1484G>A (p.Arg495Gln)	DZIP1L (R495Q)	Single nucleotide variant (missense variant)	DZIP1L-related disorder +1 more	GBenign/Likely benign
Select item 3030429	NM_173543.3(DZIP1L):c.1483C>T (p.Arg495Trp)	DZIP1L (R495W)	Single nucleotide variant (missense variant)	DZIP1L-related disorder	GUncertain significance
Select item 774171	NM_173543.3(DZIP1L):c.1401C>T (p.Leu467=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 723362	NM_173543.3(DZIP1L):c.1387C>T (p.Leu463=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related disorder +1 more	GLikely benign
Select item 2038176	NM_173543.3(DZIP1L):c.1339C>T (p.Arg447Cys)	DZIP1L (R447C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3053305	NM_173543.3(DZIP1L):c.1063-5G>T	DZIP1L	Single nucleotide variant (intron variant)	DZIP1L-related disorder	GLikely benign
Select item 717203	NM_173543.3(DZIP1L):c.883C>T (p.Leu295=)	DZIP1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1572254	NM_173543.3(DZIP1L):c.710A>G (p.Glu237Gly)	DZIP1L (E237G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2631039	NM_173543.3(DZIP1L):c.703_708+8del	DZIP1L	Deletion (splice donor variant)	DZIP1L-related disorder	GUncertain significance
Select item 3058098	NM_173543.3(DZIP1L):c.345G>A (p.Leu115=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related disorder	GLikely benign
Select item 2888989	NM_173543.3(DZIP1L):c.135C>T (p.Arg45=)	DZIP1L	Single nucleotide variant (synonymous variant)	DZIP1L-related disorder +1 more	GLikely benign

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Items: 25