IGFBP7-AS1[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 148576	GRCh38/hg38 4q12(chr4:56248102-57218522)x4	AASDH, ARL9 +39 more	Copy number gain	See cases	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)	Inborn genetic diseases	GUncertain significance
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 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 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 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 3285538	NM_001553.3(IGFBP7):c.274A>G (p.Lys92Glu)	IGFBP7, IGFBP7-AS1 (K92E)	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 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 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 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 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 3285540	NM_001553.3(IGFBP7):c.193C>T (p.Arg65Cys)	IGFBP7, IGFBP7-AS1 (R65C)	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 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 3108622	NM_001553.3(IGFBP7):c.83C>T (p.Ser28Phe)	IGFBP7, IGFBP7-AS1 (S28F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 23