"GeneDx"[submitter] AND "GZF1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 1253117	NM_022482.5(GZF1):c.-21-225C>G	GZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249326	NM_022482.5(GZF1):c.49C>T (p.Leu17=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717095	NM_022482.5(GZF1):c.569A>G (p.Asn190Ser)	GZF1 (N190S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1175464	NM_022482.5(GZF1):c.824A>C (p.Gln275Pro)	GZF1 (Q275P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1267814	NM_022482.5(GZF1):c.930G>A (p.Gly310=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1243086	NM_022482.5(GZF1):c.1364+108C>T	GZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284190	NM_022482.5(GZF1):c.1364+131C>G	GZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276698	NM_022482.5(GZF1):c.1365-87C>T	GZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266652	NM_022482.5(GZF1):c.1460-161T>C	GZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222109	NM_022482.5(GZF1):c.1627+51del	GZF1	Deletion (intron variant)	not provided	GBenign
Select item 1253684	NM_022482.5(GZF1):c.1627+183C>T	GZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227403	NM_022482.5(GZF1):c.1627+199C>T	GZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244686	NM_022482.5(GZF1):c.1785+76T>C	GZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228695	NM_022482.5(GZF1):c.1785+112T>C	GZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247022	NM_022482.5(GZF1):c.1785+147C>T	GZF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222279	NM_022482.5(GZF1):c.1848C>T (p.Asn616=)	GZF1 (T601M)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1276363	NM_022482.5(GZF1):c.*210A>T	GZF1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 20