"Illumina Laboratory Services, Illumina"[submitter] AND "TACR3"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 347102	NM_001059.3(TACR3):c.*202G>C	TACR3, TACR3-AS1	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 347103	NM_001059.3(TACR3):c.176_177del	TACR3-AS1, TACR3	Deletion (3 prime UTR variant)	Isolated GnRH Deficiency	GUncertain significance
Select item 902026	NM_001059.3(TACR3):c.*143G>A	TACR3, TACR3-AS1	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 902027	NM_001059.3(TACR3):c.*138G>A	TACR3, TACR3-AS1	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 902028	NM_001059.3(TACR3):c.*125A>G	TACR3-AS1, TACR3	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 902029	NM_001059.3(TACR3):c.*94T>G	TACR3, TACR3-AS1	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 902030	NM_001059.3(TACR3):c.*87T>C	TACR3, TACR3-AS1	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 347104	NM_001059.3(TACR3):c.*73C>T	TACR3, TACR3-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 436936	NM_001059.3(TACR3):c.1345G>T (p.Ala449Ser)	TACR3, TACR3-AS1 (A449S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 379526	NM_001059.3(TACR3):c.1345G>A (p.Ala449Thr)	TACR3, TACR3-AS1 (A449T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 516718	NM_001059.3(TACR3):c.1344C>T (p.Ser448=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 586774	NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys)	TACR3, TACR3-AS1 (R441C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347105	NM_001059.3(TACR3):c.1311T>C (p.Asn437=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 347106	NM_001059.3(TACR3):c.1290G>A (p.Thr430=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 347107	NM_001059.3(TACR3):c.1246A>T (p.Asn416Tyr)	TACR3, TACR3-AS1 (N416Y)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 11 with or without anosmia +3 more	GConflicting classifications of pathogenicity
Select item 347108	NM_001059.3(TACR3):c.1230A>T (p.Thr410=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 902915	NM_001059.3(TACR3):c.1225A>G (p.Met409Val)	TACR3, TACR3-AS1 (M409V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 900359	NM_001059.3(TACR3):c.1206C>T (p.Thr402=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 347109	NM_001059.3(TACR3):c.1188G>A (p.Arg396=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 709734	NM_001059.3(TACR3):c.921A>C (p.Thr307=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 419840	NM_001059.3(TACR3):c.918G>A (p.Met306Ile)	TACR3, TACR3-AS1 (M306I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 347110	NM_001059.3(TACR3):c.917T>C (p.Met306Thr)	TACR3, TACR3-AS1 (M306T)	Single nucleotide variant (missense variant)	Isolated GnRH Deficiency	GUncertain significance
Select item 516717	NM_001059.3(TACR3):c.873A>G (p.Leu291=)	TACR3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 445619	NM_001059.3(TACR3):c.857A>G (p.Lys286Arg)	TACR3 (K286R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 66084	NM_001059.3(TACR3):c.824G>A (p.Trp275Ter)	TACR3 (W275*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 347111	NM_001059.3(TACR3):c.737C>T (p.Thr246Ile)	TACR3 (T246I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 347112	NM_001059.3(TACR3):c.703G>A (p.Val235Met)	TACR3 (V235M)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 901512	NM_001059.3(TACR3):c.688C>T (p.Arg230Cys)	TACR3 (R230C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 347113	NM_001059.3(TACR3):c.579C>T (p.Pro193=)	TACR3	Single nucleotide variant (synonymous variant)	TACR3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 631933	NM_001059.3(TACR3):c.548+2T>A	TACR3	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 901513	NM_001059.3(TACR3):c.150C>T (p.Asn50=)	TACR3	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 726953	NM_001059.3(TACR3):c.138C>T (p.Asp46=)	TACR3	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 11 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 347114	NM_001059.3(TACR3):c.114G>T (p.Glu38Asp)	TACR3 (E38D)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 347115	NM_001059.3(TACR3):c.-10A>T	TACR3	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 347117	NM_001059.3(TACR3):c.-20G>A	TACR3	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 347116	NM_001059.3(TACR3):c.-20G>C	TACR3	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 347118	NM_001059.3(TACR3):c.-86C>A	TACR3	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 902090	NM_001059.3(TACR3):c.-93A>G	TACR3	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance
Select item 347119	NM_001059.3(TACR3):c.-103T>C	TACR3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 347120	NM_001059.3(TACR3):c.-111C>A	TACR3	Single nucleotide variant (5 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GUncertain significance

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Items: 40