16960[HGNC] - ClinVar

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Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59708	GRCh38/hg38 10q24.31-24.32(chr10:101120347-101831908)x3	BTRC, DPCD +42 more	Copy number gain	See cases	GPathogenic
Select item 155194	GRCh38/hg38 10q24.31-24.32(chr10:101177305-101719109)x3	BTRC, DPCD +28 more	Copy number gain	See cases	GPathogenic
Select item 148343	GRCh38/hg38 10q24.32(chr10:101209582-101748381)x3	BTRC, DPCD +27 more	Copy number gain	See cases	GPathogenic
Select item 2400742	NM_006562.5(LBX1):c.820G>A (p.Asp274Asn)	LBX1 (D274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118006	NM_006562.5(LBX1):c.776C>T (p.Thr259Met)	LBX1 (T259M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208914	NM_006562.5(LBX1):c.770C>T (p.Pro257Leu)	LBX1 (P257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589633	NM_006562.5(LBX1):c.722C>A (p.Ala241Asp)	LBX1 (A241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780888	NM_006562.5(LBX1):c.714C>G (p.Pro238=)	LBX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2346010	NM_006562.5(LBX1):c.713C>A (p.Pro238His)	LBX1 (P238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308865	NM_006562.5(LBX1):c.599G>A (p.Ser200Asn)	LBX1 (S200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262830	NM_006562.5(LBX1):c.326-187C>A	LBX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640769	NM_006562.5(LBX1):c.320C>T (p.Ala107Val)	LBX1 (A107V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294899	NM_006562.5(LBX1):c.228C>T (p.Arg76=)	LBX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2373757	NM_006562.5(LBX1):c.226C>T (p.Arg76Cys)	LBX1 (R76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569371	NM_006562.5(LBX1):c.203A>C (p.Gln68Pro)	LBX1 (Q68P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2640770	NM_006562.5(LBX1):c.166G>T (p.Ala56Ser)	LBX1 (A56S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3290226	NM_006562.5(LBX1):c.142C>G (p.Arg48Gly)	LBX1 (R48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3245034	NC_000010.10:g.(?_102987027)_(103454397_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 3244998	NC_000010.10:g.(?_102987027)_(103372254_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 3244997	NC_000010.10:g.(?_102987027)_(103436213_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063128	GRCh37/hg19 10q24.31-24.32(chr10:102965124-103403057)x3	BTRC, DPCD +3 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063127	GRCh37/hg19 10q24.31-24.32(chr10:102981549-103472860)x3	BTRC, DPCD +3 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684618	GRCh37/hg19 10q24.31-24.32(chr10:102958930-103525401)x3	BTRC, DPCD +3 more	Copy number gain	not provided	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 2426705	NC_000010.10:g.(?_102987027)_(103384587_?)dup	BTRC, DPCD +3 more	Duplication	not provided	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 2423956	NC_000010.10:g.(?_102747968)_(103535657_?)dup	BTRC, DPCD +11 more	Duplication	not provided	GUncertain significance
Select item 1807766	GRCh37/hg19 10q24.31-24.32(chr10:102958930-103445585)x3	BTRC, DPCD +3 more	Copy number gain	not provided	GPathogenic
Select item 1412304	NC_000010.10:g.(?_102987027)_(103530396_?)dup	BTRC, DPCD +4 more	Duplication	not provided	GUncertain significance
Select item 1341280	GRCh37/hg19 10q24.31-24.32(chr10:102924944-103285855)x3	BTRC, LBX1	Copy number gain	not provided	GUncertain significance
Select item 815374	GRCh37/hg19 10q24.31-24.32(chr10:102925257-103401586)x3	POLL, BTRC +3 more	Copy number gain	not provided	GPathogenic
Select item 635863	NC_000010.10:g.102928083_103377947dup	BTRC, DPCD +3 more	Duplication	Internal malformations	GUncertain significance
Select item 625658	GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)	BTRC, DPCD +9 more	Copy number gain	Split hand-foot malformation 3	GPathogenic
Select item 590885	Single allele	DPCD, BTRC +5 more	Duplication	Ectrodactyly	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443365	GRCh37/hg19 10q24.31-24.32(chr10:102949737-103432420)x3	BTRC, DPCD +3 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 443140	GRCh37/hg19 10q24.31-24.32(chr10:102949227-103482524)x3	BTRC, DPCD +3 more	Copy number gain	See cases	GPathogenic
Select item 442850	GRCh37/hg19 10q24.31-24.32(chr10:102947729-103488168)x3	BTRC, DPCD +3 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 441043	GRCh37/hg19 10q24.31-24.32(chr10:102969339-103234142)x3	BTRC, LBX1	Copy number gain	not provided	Gnot provided
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 1283920	LBX1, 1-BP DEL, 697T	LBX1	Deletion	Central hypoventilation syndrome, congenital, 3	GPathogenic

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Items: 53