LOC126862584[gene] - ClinVar

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Items: 24

	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 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 2127941	NM_002204.4(ITGA3):c.240dup (p.Pro81fs)	ITGA3, LOC126862584 (P81fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2182277	NM_002204.4(ITGA3):c.243C>T (p.Pro81=)	ITGA3, LOC126862584	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2508562	NM_002204.4(ITGA3):c.244G>A (p.Asp82Asn)	ITGA3, LOC126862584 (D82N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2064934	NM_002204.4(ITGA3):c.246T>C (p.Asp82=)	ITGA3, LOC126862584	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944093	NM_002204.4(ITGA3):c.286C>G (p.Leu96Val)	ITGA3, LOC126862584 (L96V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3111212	NM_002204.4(ITGA3):c.314G>A (p.Arg105Gln)	ITGA3, LOC126862584 (R105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291246	NM_002204.4(ITGA3):c.317T>A (p.Met106Lys)	ITGA3, LOC126862584 (M106K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1942678	NM_002204.4(ITGA3):c.321C>T (p.Asn107=)	ITGA3, LOC126862584	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1202007	NM_002204.4(ITGA3):c.334+98C>T	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199994	NM_002204.4(ITGA3):c.334+150T>C	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215773	NM_002204.4(ITGA3):c.335-161G>A	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253863	NM_002204.4(ITGA3):c.335-30T>A	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959180	NM_002204.4(ITGA3):c.335-18T>C	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3111213	NM_002204.4(ITGA3):c.344G>A (p.Gly115Asp)	ITGA3, LOC126862584 (G115D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2478437	NM_002204.4(ITGA3):c.389G>A (p.Ser130Asn)	ITGA3, LOC126862584 (S130N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182715	NM_002204.4(ITGA3):c.394G>A (p.Gly132Ser)	ITGA3, LOC126862584 (G132S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 784360	NM_002204.4(ITGA3):c.399T>C (p.Pro133=)	ITGA3, LOC126862584	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1244792	NM_002204.4(ITGA3):c.414+38C>T	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254791	NM_002204.4(ITGA3):c.414+89G>A	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 24