TACR2[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	ADAMTS14, ADK +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 2335090	NM_001057.3(TACR2):c.1181C>A (p.Thr394Asn)	TACR2 (T394N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601559	NM_001057.3(TACR2):c.1142G>C (p.Gly381Ala)	TACR2 (G381A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717296	NM_001057.3(TACR2):c.1128C>T (p.Pro376=)	TACR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 748076	NM_001057.3(TACR2):c.1023G>A (p.Thr341=)	TACR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2344725	NM_001057.3(TACR2):c.1022C>G (p.Thr341Arg)	TACR2 (T341R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 714484	NM_001057.3(TACR2):c.968G>A (p.Arg323His)	TACR2 (R323H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2377427	NM_001057.3(TACR2):c.967C>T (p.Arg323Cys)	TACR2 (R323C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517768	NM_001057.3(TACR2):c.943C>T (p.Arg315Cys)	TACR2 (R315C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271930	NM_001057.3(TACR2):c.761T>C (p.Leu254Pro)	TACR2 (L254P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779115	NM_001057.3(TACR2):c.751A>G (p.Thr251Ala)	TACR2 (T251A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2484230	NM_001057.3(TACR2):c.632C>T (p.Ala211Val)	TACR2 (A211V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2308775	NM_001057.3(TACR2):c.556C>T (p.Pro186Ser)	TACR2 (P186S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458029	NM_001057.3(TACR2):c.424C>T (p.Arg142Trp)	TACR2 (R142W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785810	NM_001057.3(TACR2):c.392+8G>A	TACR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2321202	NM_001057.3(TACR2):c.278A>G (p.Tyr93Cys)	TACR2 (Y93C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383143	NM_001057.3(TACR2):c.250G>T (p.Ala84Ser)	TACR2 (A84S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610433	NM_001057.3(TACR2):c.239T>G (p.Leu80Arg)	TACR2 (L80R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215403	NM_001057.3(TACR2):c.194G>A (p.Arg65His)	TACR2 (R65H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320354	NM_001057.3(TACR2):c.173T>A (p.Ile58Asn)	TACR2 (I58N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607331	NM_001057.3(TACR2):c.157A>G (p.Ile53Val)	TACR2 (I53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776516	NM_001057.3(TACR2):c.14A>G (p.Asp5Gly)	TACR2 (D5G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	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 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 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 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: 36