ABI1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131251	NM_001012750.3(ABI1):c.1214A>G (p.Asn405Ser)	ABI1 (N346S +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718498	NM_001012750.3(ABI1):c.1161A>C (p.Pro387=)	ABI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2490438	NM_001012750.3(ABI1):c.1005T>G (p.Ile335Met)	ABI1 (I361M +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131243	NM_001012750.3(ABI1):c.962A>G (p.His321Arg)	ABI1 (H316R +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131277	NM_001012750.3(ABI1):c.878G>C (p.Arg293Pro)	ABI1 (R287P +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131275	NM_001012750.3(ABI1):c.820+1311C>T	ABI1 (P292S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548831	NM_001012750.3(ABI1):c.820+1285G>T	ABI1 (G300V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323648	NM_001012750.3(ABI1):c.803C>T (p.Pro268Leu)	ABI1 (P204L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640369	NM_001012750.3(ABI1):c.792T>C (p.Pro264=)	ABI1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3131270	NM_001012750.3(ABI1):c.737G>T (p.Ser246Ile)	ABI1 (S246I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533272	NM_001012750.3(ABI1):c.694T>G (p.Leu232Val)	ABI1 (L168V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527657	NM_001012750.3(ABI1):c.646A>G (p.Ser216Gly)	ABI1 (S211G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270505	NM_001012750.3(ABI1):c.605A>G (p.Glu202Gly)	ABI1 (E197G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131256	NM_001012750.3(ABI1):c.412C>T (p.Arg138Trp)	ABI1 (R138W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323569	NM_001012750.3(ABI1):c.350A>G (p.Asn117Ser)	ABI1 (N117S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303176	NM_001012750.3(ABI1):c.110A>G (p.Tyr37Cys)	ABI1 (Y37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262665	NM_001012750.3(ABI1):c.26A>T (p.Glu9Val)	ABI1 (E9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance