ITGB1BP2[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286828	NM_012278.4(ITGB1BP2):c.16C>T (p.Arg6Cys)	ITGB1BP2 (R6C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 719161	NM_012278.4(ITGB1BP2):c.37C>T (p.His13Tyr)	ITGB1BP2 (H13Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2516289	NM_012278.4(ITGB1BP2):c.76C>T (p.His26Tyr)	ITGB1BP2 (H26Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721436	NM_012278.4(ITGB1BP2):c.115-4T>C	ITGB1BP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 723477	NM_012278.4(ITGB1BP2):c.143T>G (p.Val48Gly)	ITGB1BP2 (V48G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3111419	NM_012278.4(ITGB1BP2):c.304C>T (p.Arg102Trp)	ITGB1BP2 (R102W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736423	NM_012278.4(ITGB1BP2):c.430C>T (p.Arg144Trp)	ITGB1BP2 (R21W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2347834	NM_012278.4(ITGB1BP2):c.824A>G (p.Asn275Ser)	ITGB1BP2 (N152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394517	NM_012278.4(ITGB1BP2):c.923C>G (p.Ala308Gly)	ITGB1BP2 (A185G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 102424	NM_012278.4(ITGB1BP2):c.938C>G (p.Ala313Gly)	ITGB1BP2 (A313G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance