Related gene-specific medical variations for Gene (Select 6870) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062806	GRCh37/hg19 4q24(chr4:104611103-104641864)x1	TACR3	Copy number loss	not specified	GUncertain significance
Select item 2964605	NM_001059.3(TACR3):c.1090C>T (p.Arg364Ter)	TACR3, TACR3-AS1 (R364*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2550556	NM_001059.3(TACR3):c.1016T>C (p.Leu339Pro)	TACR3, TACR3-AS1 (L339P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359948	NM_001059.3(TACR3):c.1393T>C (p.Ser465Pro)	TACR3-AS1, TACR3 (S465P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2339444	NM_001059.3(TACR3):c.930C>G (p.Ile310Met)	TACR3, TACR3-AS1 (I310M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2134606	NM_001059.3(TACR3):c.1373A>G (p.Tyr458Cys)	TACR3, TACR3-AS1 (Y458C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093624	NM_001059.3(TACR3):c.1164G>A (p.Lys388=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043825	NM_001059.3(TACR3):c.954C>T (p.Tyr318=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019452	NM_001059.3(TACR3):c.1062C>T (p.Ile354=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960284	NM_001059.3(TACR3):c.964A>G (p.Thr322Ala)	TACR3, TACR3-AS1 (T322A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609445	NM_001059.3(TACR3):c.1085+13C>A	TACR3, TACR3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1508744	NM_001059.3(TACR3):c.1118G>T (p.Trp373Leu)	TACR3, TACR3-AS1 (W373L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344744	NM_001059.3(TACR3):c.743A>G (p.His248Arg)	TACR3 (H248R)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1313269	NM_001059.3(TACR3):c.892G>T (p.Val298Phe)	TACR3, TACR3-AS1 (V298F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298967	NM_001059.3(TACR3):c.1234G>A (p.Val412Met)	TACR3, TACR3-AS1 (V412M)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 11 with or without anosmia +1 more	GUncertain significance
Select item 1294256	NM_001059.3(TACR3):c.1085+16C>T	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 1223339	NM_001059.3(TACR3):c.1085+193A>G	TACR3, TACR3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1205241	NM_001059.3(TACR3):c.1086-214C>G	TACR3, TACR3-AS1	Single nucleotide variant (intron variant)	not provided	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 1181896	NM_001059.3(TACR3):c.1086-213_1086-212insG	TACR3, TACR3-AS1	Insertion (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 814593	GRCh37/hg19 4q24(chr4:104279945-104727633)x3	TACR3	Copy number gain	not provided	GUncertain significance
Select item 722739	NM_001059.3(TACR3):c.1167C>T (p.Thr389=)	TACR3-AS1, TACR3	Single nucleotide variant (synonymous variant)	TACR3-related condition +1 more	GLikely benign
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 685256	GRCh37/hg19 4q24(chr4:104330793-104518529)x3	TACR3	Copy number gain	not provided	GUncertain significance
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 562951	GRCh37/hg19 4q24(chr4:104577887-104641864)x1	TACR3	Copy number loss	not provided	GUncertain significance
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 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 436938	NM_001059.3(TACR3):c.892G>A (p.Val298Ile)	TACR3, TACR3-AS1 (V298I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436937	NM_001059.3(TACR3):c.1159C>T (p.Leu387Phe)	TACR3, TACR3-AS1 (L387F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 379526	NM_001059.3(TACR3):c.1345G>A (p.Ala449Thr)	TACR3, TACR3-AS1 (A449T)	Single nucleotide variant (missense variant)	TACR3-related condition +2 more	GBenign/Likely benign
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 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 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 347107	NM_001059.3(TACR3):c.1246A>T (p.Asn416Tyr)	TACR3, TACR3-AS1 (N416Y)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 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 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 347103	NM_001059.3(TACR3):c.176_177del	TACR3-AS1, TACR3	Deletion (3 prime UTR variant)	Isolated GnRH Deficiency	GUncertain significance
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 14026	NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser)	TACR3, TACR3-AS1 (P353S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GPathogenic

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Items: 52