"GeneDx"[submitter] AND "GFI1B"[gene] - ClinVar

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Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1261847	NM_001377304.1(GFI1B):c.-20-48T>G	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307062	NM_001377304.1(GFI1B):c.59T>A (p.Val20Glu)	GFI1B (V20E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234115	NM_001377304.1(GFI1B):c.101-190G>A	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252524	NM_001377304.1(GFI1B):c.101-174C>T	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240764	NM_001377304.1(GFI1B):c.101-77A>C	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272745	NM_001377304.1(GFI1B):c.101-37C>T	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222838	NM_001377304.1(GFI1B):c.238+178G>C	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233811	NM_001377304.1(GFI1B):c.238+181T>C	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288786	NM_001377304.1(GFI1B):c.238+229G>A	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276792	NM_001377304.1(GFI1B):c.239-289G>A	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289097	NM_001377304.1(GFI1B):c.239-99A>G	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248257	NM_001377304.1(GFI1B):c.239-82G>A	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1702704	NM_001377304.1(GFI1B):c.485C>T (p.Ala162Val)	GFI1B (A162V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1239181	NM_001377304.1(GFI1B):c.511-271C>T	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178621	NM_001377304.1(GFI1B):c.511-258A>C	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271680	NM_001377304.1(GFI1B):c.511-169G>A	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251303	NM_001377304.1(GFI1B):c.511-12C>G	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1702558	NM_001377304.1(GFI1B):c.610G>T (p.Ala204Ser)	GFI1B (A204S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1244561	NM_001377304.1(GFI1B):c.649-270A>G	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3347570	NM_001377304.1(GFI1B):c.773A>G (p.His258Arg)	GFI1B (H212R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290364	NM_001377304.1(GFI1B):c.814+65A>G	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241135	NM_001377304.1(GFI1B):c.814+202T>C	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257682	NM_001377304.1(GFI1B):c.815-105C>T	GFI1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 438347	NM_001377304.1(GFI1B):c.923T>C (p.Leu308Pro)	GFI1B (L308P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181247	NM_001377304.1(GFI1B):c.*211C>G	GFI1B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1295072	NM_001377304.1(GFI1B):c.*256A>G	GFI1B	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 27