abi3[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
Select item 155384	GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3	ABI3, ATP5MC1 +92 more	Copy number gain	See cases	GUncertain significance
Select item 59588	GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	LOC130061104, LOC130061105 +87 more	Copy number loss	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 2242566	NM_016428.3(ABI3):c.47G>A (p.Arg16Gln)	ABI3, LOC130061111 (R16Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716487	NM_016428.3(ABI3):c.261A>G (p.Glu87=)	ABI3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2304277	NM_016428.3(ABI3):c.265C>T (p.Arg89Cys)	ABI3 (R89C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768895	NM_016428.3(ABI3):c.285+9C>T	ABI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2488438	NM_016428.3(ABI3):c.289G>A (p.Val97Met)	ABI3 (V91M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 870543	NM_016428.3(ABI3):c.290T>A (p.Val97Glu)	ABI3 (V91E +1 more)	Single nucleotide variant (missense variant)	Early-onset dementia of unclear type	GUncertain significance
Select item 2521497	NM_016428.3(ABI3):c.299A>G (p.His100Arg)	ABI3 (H94R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277876	NM_016428.3(ABI3):c.328G>A (p.Gly110Ser)	ABI3 (G110S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537418	NM_016428.3(ABI3):c.384G>T (p.Glu128Asp)	ABI3 (E122D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244131	NM_016428.3(ABI3):c.391C>T (p.Pro131Ser)	ABI3 (P131S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768896	NM_016428.3(ABI3):c.522T>C (p.Pro174=)	ABI3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2623955	NM_016428.3(ABI3):c.532G>A (p.Ala178Thr)	ABI3 (A178T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614900	NM_016428.3(ABI3):c.572C>T (p.Pro191Leu)	ABI3 (P185L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552692	NM_016428.3(ABI3):c.623C>A (p.Ala208Glu)	ABI3 (A202E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408665	NM_016428.3(ABI3):c.733C>G (p.Pro245Ala)	ABI3 (P239A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533518	NM_016428.3(ABI3):c.865G>A (p.Gly289Arg)	ABI3 (G289R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266128	NM_016428.3(ABI3):c.1009G>A (p.Val337Ile)	ABI3 (V331I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2253200	NM_016428.3(ABI3):c.1024T>C (p.Ser342Pro)	ABI3 (S342P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255005	NM_016428.3(ABI3):c.1045G>A (p.Val349Ile)	ABI3 (V343I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 1807609	GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)x3	ABI3, ATP5MC1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688814	GRCh37/hg19 17q21.32-21.33(chr17:46899690-47540874)x3	ABI3, ATP5MC1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 32