"GeneDx"[submitter] AND "TACR3-AS1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 151715	GRCh38/hg38 4q24(chr4:103434829-103926294)x1	LINC02428, TACR3 +1 more	Copy number loss	See cases	GLikely benign
Select item 1204446	NM_001059.3(TACR3):c.*270T>C	TACR3, TACR3-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 347104	NM_001059.3(TACR3):c.*73C>T	TACR3, TACR3-AS1	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 11 with or without anosmia +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)	Hypogonadotropic hypogonadism 11 with or without anosmia +1 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)	Hypogonadotropic hypogonadism 11 with or without anosmia +1 more	GConflicting classifications of pathogenicity
Select item 450930	NM_001059.3(TACR3):c.1289C>T (p.Thr430Met)	TACR3, TACR3-AS1 (T430M)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 11 with or without anosmia +1 more	GUncertain significance
Select item 347107	NM_001059.3(TACR3):c.1246A>T (p.Asn416Tyr)	TACR3, TACR3-AS1 (N416Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1217925	NM_001059.3(TACR3):c.1086-206C>T	TACR3, TACR3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181896	NM_001059.3(TACR3):c.1086-213_1086-212insG	TACR3, TACR3-AS1	Insertion (intron variant)	not provided	GLikely benign
Select item 1205241	NM_001059.3(TACR3):c.1086-214C>G	TACR3, TACR3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223339	NM_001059.3(TACR3):c.1085+193A>G	TACR3, TACR3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253552	NM_001059.3(TACR3):c.1085+156C>A	TACR3, TACR3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294256	NM_001059.3(TACR3):c.1085+16C>T	TACR3, TACR3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 +1 more	GUncertain significance
Select item 1313269	NM_001059.3(TACR3):c.892G>T (p.Val298Phe)	TACR3-AS1, TACR3 (V298F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 20