ABI1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 59666	GRCh38/hg38 10p12.1(chr10:25484473-26963308)x3	ABI1, ANKRD26 +38 more	Copy number gain	See cases	GPathogenic
Select item 1196649	NM_014317.5(PDSS1):c.*146del	PDSS1, ABI1	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 879951	NM_014317.5(PDSS1):c.*147A>G	PDSS1, ABI1	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 299706	NM_014317.5(PDSS1):c.*157T>G	ABI1, PDSS1	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +1 more	GBenign/Likely benign
Select item 299707	NM_014317.5(PDSS1):c.*262T>C	ABI1, PDSS1	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GUncertain significance
Select item 299708	NM_014317.5(PDSS1):c.*264A>T	ABI1, PDSS1	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	GLikely benign
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 150697	GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1	ABI1, ACBD5 +101 more	Copy number loss	See cases	GPathogenic
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
Select item 3063151	GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1	ABI1, ACBD5 +20 more	Copy number loss	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2427285	NC_000010.10:g.(?_26993586)_(28391597_?)dup	RAB18, YME1L1 +9 more	Duplication	not provided	GUncertain significance
Select item 1807877	GRCh37/hg19 10p12.1(chr10:27065576-27549923)x3	ABI1, ACBD5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 37