Related gene-specific medical variations for Gene (Select 26548) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3111425	NM_012278.4(ITGB1BP2):c.787G>A (p.Val263Met)	ITGB1BP2, LOC126863276 (V140M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111423	NM_012278.4(ITGB1BP2):c.650C>T (p.Ser217Phe)	ITGB1BP2, LOC126863276 (S217F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111422	NM_012278.4(ITGB1BP2):c.646G>C (p.Ala216Pro)	ITGB1BP2, LOC126863276 (A93P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111421	NM_012278.4(ITGB1BP2):c.545A>G (p.Lys182Arg)	ITGB1BP2, LOC126863276 (K182R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111420	NM_012278.4(ITGB1BP2):c.527G>A (p.Arg176Gln)	ITGB1BP2, LOC126863276 (R176Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569241	NM_012278.4(ITGB1BP2):c.758A>G (p.His253Arg)	ITGB1BP2, LOC126863276 (H253R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541286	NM_012278.4(ITGB1BP2):c.712C>A (p.Pro238Thr)	ITGB1BP2, LOC126863276 (P115T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382014	NM_012278.4(ITGB1BP2):c.587C>T (p.Ala196Val)	ITGB1BP2, LOC126863276 (A73V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381372	NM_012278.4(ITGB1BP2):c.779G>A (p.Gly260Asp)	ITGB1BP2, LOC126863276 (G137D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339314	NM_012278.4(ITGB1BP2):c.706C>G (p.Gln236Glu)	ITGB1BP2, LOC126863276 (Q236E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260718	NM_012278.4(ITGB1BP2):c.490G>T (p.Asp164Tyr)	ITGB1BP2, LOC126863276 (D41Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742622	NM_012278.4(ITGB1BP2):c.723G>A (p.Ala241=)	LOC126863276, ITGB1BP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign