Related gene-specific medical variations for Gene (Select 3490) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216525	NM_000938.3(POLR2B):c.3449G>A (p.Arg1150Gln)	IGFBP7, POLR2B (R1143Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3108622	NM_001553.3(IGFBP7):c.83C>T (p.Ser28Phe)	IGFBP7, IGFBP7-AS1 (S28F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051631	NM_001553.3(IGFBP7):c.431G>A (p.Gly144Glu)	IGFBP7, IGFBP7-AS1 (G144E)	Single nucleotide variant (non-coding transcript variant +1 more)	IGFBP7-related disorder	GLikely benign
Select item 3045248	NM_001553.3(IGFBP7):c.403G>A (p.Ala135Thr)	IGFBP7, IGFBP7-AS1 (A135T)	Single nucleotide variant (non-coding transcript variant +1 more)	IGFBP7-related disorder	GBenign
Select item 3045023	NM_001553.3(IGFBP7):c.101C>A (p.Pro34His)	IGFBP7, IGFBP7-AS1 (P34H)	Single nucleotide variant (missense variant)	IGFBP7-related disorder	GLikely benign
Select item 2386352	NM_001553.3(IGFBP7):c.310G>A (p.Gly104Ser)	IGFBP7, IGFBP7-AS1 (G104S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374326	NM_001553.3(IGFBP7):c.370G>A (p.Gly124Ser)	IGFBP7, IGFBP7-AS1 (G124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339098	NM_001553.3(IGFBP7):c.233G>A (p.Arg78Lys)	IGFBP7, IGFBP7-AS1 (R78K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339097	NM_001553.3(IGFBP7):c.167C>T (p.Ala56Val)	IGFBP7, IGFBP7-AS1 (A56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299418	NM_001553.3(IGFBP7):c.314C>G (p.Pro105Arg)	IGFBP7, IGFBP7-AS1 (P105R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253307	NM_001553.3(IGFBP7):c.226G>A (p.Ala76Thr)	IGFBP7, IGFBP7-AS1 (A76T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244971	NM_001553.3(IGFBP7):c.255G>A (p.Met85Ile)	IGFBP7, IGFBP7-AS1 (M85I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222605	NM_001553.3(IGFBP7):c.229G>A (p.Gly77Ser)	IGFBP7, IGFBP7-AS1 (G77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215375	NM_001553.3(IGFBP7):c.250G>A (p.Gly84Ser)	IGFBP7, IGFBP7-AS1 (G84S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1252043	NM_001553.3(IGFBP7):c.829G>A (p.Gly277Ser)	IGFBP7 (G277S)	Single nucleotide variant (missense variant)	Familial retinal arterial macroaneurysm	GPathogenic
Select item 688169	GRCh37/hg19 4q12-13.1(chr4:57932502-59894298)x3	IGFBP7	Copy number gain	not provided	GUncertain significance
Select item 395164	GRCh37/hg19 4q12(chr4:57915534-58084629)x3	IGFBP7	Copy number gain	See cases	GBenign