APBB1IP[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +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 2354090	NM_019043.4(APBB1IP):c.33G>A (p.Met11Ile)	APBB1IP (M11I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393171	NM_019043.4(APBB1IP):c.98C>T (p.Pro33Leu)	APBB1IP (P33L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232159	NM_019043.4(APBB1IP):c.121G>A (p.Ala41Thr)	APBB1IP (A41T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384946	NM_019043.4(APBB1IP):c.127T>C (p.Phe43Leu)	APBB1IP (F43L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640365	NM_019043.4(APBB1IP):c.498G>A (p.Ala166=)	APBB1IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597915	NM_019043.4(APBB1IP):c.551T>C (p.Met184Thr)	APBB1IP (M184T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722250	NM_019043.4(APBB1IP):c.624C>T (p.Phe208=)	APBB1IP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2410580	NM_019043.4(APBB1IP):c.697T>C (p.Phe233Leu)	APBB1IP (F233L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364043	NM_019043.4(APBB1IP):c.873T>G (p.Asn291Lys)	APBB1IP (N291K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594934	NM_019043.4(APBB1IP):c.923T>C (p.Ile308Thr)	APBB1IP (I308T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402162	NM_019043.4(APBB1IP):c.1061C>T (p.Ala354Val)	APBB1IP (A354V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718773	NM_019043.4(APBB1IP):c.1285C>T (p.Arg429Trp)	APBB1IP (R429W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2595638	NM_019043.4(APBB1IP):c.1361C>T (p.Pro454Leu)	APBB1IP (P454L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316986	NM_019043.4(APBB1IP):c.1511C>T (p.Ala504Val)	APBB1IP (A504V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366665	NM_019043.4(APBB1IP):c.1529A>C (p.His510Pro)	APBB1IP (H510P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271115	NM_019043.4(APBB1IP):c.1562C>T (p.Pro521Leu)	APBB1IP (P521L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617055	NM_019043.4(APBB1IP):c.1583C>T (p.Thr528Ile)	APBB1IP (T528I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545194	NM_019043.4(APBB1IP):c.1654G>C (p.Asp552His)	APBB1IP (D552H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517130	NM_019043.4(APBB1IP):c.1657T>A (p.Phe553Ile)	APBB1IP (F553I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205347	NM_019043.4(APBB1IP):c.1702C>T (p.Leu568Phe)	APBB1IP (L568F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237679	NM_019043.4(APBB1IP):c.1705C>T (p.Pro569Ser)	APBB1IP (P569S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229011	NM_019043.4(APBB1IP):c.1727T>C (p.Met576Thr)	APBB1IP (M576T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294218	NM_019043.4(APBB1IP):c.1792C>G (p.Leu598Val)	APBB1IP (L598V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294219	NM_019043.4(APBB1IP):c.1793T>G (p.Leu598Arg)	APBB1IP (L598R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780852	NM_019043.4(APBB1IP):c.1849G>A (p.Ala617Thr)	APBB1IP (A617T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768352	NM_019043.4(APBB1IP):c.1865C>T (p.Ala622Val)	APBB1IP (A622V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2408656	NM_019043.4(APBB1IP):c.1891C>G (p.Pro631Ala)	APBB1IP (P631A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297584	NM_019043.4(APBB1IP):c.1892C>A (p.Pro631His)	APBB1IP (P631H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640366	NM_019043.4(APBB1IP):c.1998C>T (p.Ser666=)	APBB1IP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 443842	GRCh37/hg19 10p12.1(chr10:24628319-26747630)x1	APBB1IP, ARHGAP21 +7 more	Copy number loss	See cases	GUncertain significance
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)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic

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Items: 42