6870[Gene ID] - ClinVar - NCBI

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	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 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)	Hypogonadotropic hypogonadism 11 with or without anosmia +1 more	GBenign
Select item 2359948	NM_001059.3(TACR3):c.1393T>C (p.Ser465Pro)	TACR3, TACR3-AS1 (S465P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 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 3324186	NM_001059.3(TACR3):c.1289C>A (p.Thr430Lys)	TACR3, TACR3-AS1 (T430K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 specified +2 more	GConflicting classifications of pathogenicity
Select item 1298967	NM_001059.3(TACR3):c.1234G>A (p.Val412Met)	TACR3, TACR3-AS1 (V412M)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 722739	NM_001059.3(TACR3):c.1167C>T (p.Thr389=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2964605	NM_001059.3(TACR3):c.1090C>T (p.Arg364Ter)	TACR3, TACR3-AS1 (R364*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 1609445	NM_001059.3(TACR3):c.1085+13C>A	TACR3, TACR3-AS1	Single nucleotide variant (intron 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 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
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 3248549	NM_001059.3(TACR3):c.1003C>T (p.Gln335Ter)	TACR3, TACR3-AS1 (Q335*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism	GPathogenic
Select item 3353090	NM_001059.3(TACR3):c.969A>T (p.Ala323=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	TACR3-related disorder	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 2043825	NM_001059.3(TACR3):c.954C>T (p.Tyr318=)	TACR3, TACR3-AS1	Single nucleotide variant (synonymous variant)	not provided	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 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 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 1313269	NM_001059.3(TACR3):c.892G>T (p.Val298Phe)	TACR3-AS1, TACR3 (V298F)	Single nucleotide variant (missense variant)	not provided	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 1208965	NM_001059.3(TACR3):c.888+174A>G	TACR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209174	NM_001059.3(TACR3):c.888+77T>C	TACR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2637234	NM_001059.3(TACR3):c.880A>G (p.Lys294Glu)	TACR3 (K294E)	Single nucleotide variant (missense variant)	TACR3-related disorder	GUncertain significance
Select item 516717	NM_001059.3(TACR3):c.873A>G (p.Leu291=)	TACR3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 445619	NM_001059.3(TACR3):c.857A>G (p.Lys286Arg)	TACR3 (K286R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 66084	NM_001059.3(TACR3):c.824G>A (p.Trp275Ter)	TACR3 (W275*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 11 with or without anosmia +1 more	GPathogenic
Select item 3324185	NM_001059.3(TACR3):c.802A>G (p.Thr268Ala)	TACR3 (T268A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729716	NM_001059.3(TACR3):c.780G>A (p.Leu260=)	TACR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 393214	NM_001059.3(TACR3):c.775C>T (p.Pro259Ser)	TACR3 (P259S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66085	NM_001059.3(TACR3):c.766T>C (p.Tyr256His)	TACR3 (Y256H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GPathogenic
Select item 1394681	NM_001059.3(TACR3):c.745A>G (p.Ile249Val)	TACR3 (I249V)	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 2964730	NM_001059.3(TACR3):c.738-14_738-12del	TACR3	Deletion (intron variant)	not provided	GLikely benign
Select item 672986	NM_001059.3(TACR3):c.737+264_737+265insATGTGCACATTCC	TACR3	Insertion (intron variant)	not provided	GLikely benign
Select item 1205577	NM_001059.3(TACR3):c.737+257A>C	TACR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672985	NM_001059.3(TACR3):c.737+253_737+254insAT	TACR3	Insertion (intron variant)	not provided	GLikely benign
Select item 2631123	NM_001059.3(TACR3):c.737+1G>C	TACR3	Single nucleotide variant (splice donor variant)	TACR3-related disorder	GLikely pathogenic
Select item 818214	NM_001059.3(TACR3):c.737+1G>A	TACR3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2386855	NM_001059.3(TACR3):c.730C>T (p.His244Tyr)	TACR3 (H244Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 183684	NM_001059.3(TACR3):c.692C>T (p.Thr231Ile)	TACR3 (T231I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 11 with or without anosmia	GLikely pathogenic
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 734897	NM_001059.3(TACR3):c.687C>A (p.Gly229=)	TACR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3173355	NM_001059.3(TACR3):c.680T>C (p.Met227Thr)	TACR3 (M227T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 180159	NM_001059.3(TACR3):c.623G>A (p.Trp208Ter)	TACR3 (W208*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely pathogenic
Select item 2287687	NM_001059.3(TACR3):c.611T>C (p.Ile204Thr)	TACR3 (I204T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748785	NM_001059.3(TACR3):c.606T>A (p.Ile202=)	TACR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239359	NM_001059.3(TACR3):c.594A>T (p.Thr198=)	TACR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 347113	NM_001059.3(TACR3):c.579C>T (p.Pro193=)	TACR3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1292776	NM_001059.3(TACR3):c.549-114C>A	TACR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297173	NM_001059.3(TACR3):c.549-150G>A	TACR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199672	NM_001059.3(TACR3):c.549-267C>T	TACR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290835	NM_001059.3(TACR3):c.548+288G>A	TACR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205009	NM_001059.3(TACR3):c.548+243G>C	TACR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203064	NM_001059.3(TACR3):c.548+52T>C	TACR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961081	NM_001059.3(TACR3):c.548+17_548+20del	TACR3	Microsatellite (intron variant)	not provided	GLikely benign
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 373350	NM_001059.3(TACR3):c.548+2T>C	TACR3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 384355	NM_001059.3(TACR3):c.534C>T (p.Ala178=)	TACR3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3324183	NM_001059.3(TACR3):c.532G>C (p.Ala178Pro)	TACR3 (A178P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1307825	NM_001059.3(TACR3):c.514A>G (p.Ser172Gly)	TACR3 (S172G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 180148	NM_001059.3(TACR3):c.511G>C (p.Ala171Pro)	TACR3 (A171P)	Single nucleotide variant (missense variant)	Delayed puberty	GLikely pathogenic
Select item 817809	NM_001059.3(TACR3):c.447_448del (p.Ser149fs)	TACR3 (S149fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1304692	NM_001059.3(TACR3):c.445A>G (p.Ser149Gly)	TACR3 (S149G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2960166	NM_001059.3(TACR3):c.432C>A (p.Ile144=)	TACR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310388	NM_001059.3(TACR3):c.416C>T (p.Thr139Met)	TACR3 (T139M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2542191	NM_001059.3(TACR3):c.404C>T (p.Ala135Val)	TACR3 (A135V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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