ClinVar for Gene (Select 6870) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3324185	NM_001059.3(TACR3):c.802A>G (p.Thr268Ala)	TACR3 (T268A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324184	NM_001059.3(TACR3):c.259C>T (p.Leu87Phe)	TACR3 (L87F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3248549	NM_001059.3(TACR3):c.1003C>T (p.Gln335Ter)	TACR3, TACR3-AS1 (Q335*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism	GPathogenic
Select item 3246728	NC_000004.11:g.(?_101947022)_(104640852_?)del	BANK1, BDH2 +10 more	Deletion	not provided	GPathogenic
Select item 3239359	NM_001059.3(TACR3):c.594A>T (p.Thr198=)	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 3062806	GRCh37/hg19 4q24(chr4:104611103-104641864)x1	TACR3	Copy number loss	not specified	GUncertain significance
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 2964730	NM_001059.3(TACR3):c.738-14_738-12del	TACR3	Deletion (intron variant)	not provided	GLikely benign
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 2961081	NM_001059.3(TACR3):c.548+17_548+20del	TACR3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2960166	NM_001059.3(TACR3):c.432C>A (p.Ile144=)	TACR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884768	NM_001059.3(TACR3):c.156C>A (p.Ser52=)	TACR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724555	NM_001059.3(TACR3):c.276T>C (p.Tyr92=)	TACR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654989	NM_001059.3(TACR3):c.12C>T (p.Leu4=)	TACR3	Single nucleotide variant (synonymous 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 2633867	NM_001059.3(TACR3):c.311_312insTCCTGGATTGCAAGTATGAAATCTTCCTGGATTTGGGAAATCT (p.Leu104_Ile105insProGlyLeuGlnValTer)	TACR3	Insertion (nonsense +2 more)	TACR3-related disorder	GLikely pathogenic
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 2606016	NM_001059.3(TACR3):c.235G>A (p.Val79Met)	TACR3 (V79M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2542813	NM_001059.3(TACR3):c.128A>T (p.Gln43Leu)	TACR3 (Q43L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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
Select item 2445492	NC_000004.11:g.(?_101947022)_(107268849_?)dup	AIMP1, ARHGEF38 +19 more	Duplication	not provided	GUncertain significance
Select item 2443276	NM_001059.3(TACR3):c.181C>A (p.Pro61Thr)	TACR3 (P61T)	Single nucleotide variant (missense variant)	TACR3-related disorder +1 more	GLikely benign
Select item 2424810	NC_000004.11:g.(?_101947022)_(106061534_?)del	TACR3, CISD2 +11 more	Deletion	not provided	GPathogenic
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 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 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 2287687	NM_001059.3(TACR3):c.611T>C (p.Ile204Thr)	TACR3 (I204T)	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 1972284	NM_001059.3(TACR3):c.297A>T (p.Ala99=)	TACR3	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 1703532	GRCh37/hg19 4q24(chr4:102851823-104641864)	SLC39A8, SLC9B1 +9 more	Copy number loss	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 1691567	NM_001059.3(TACR3):c.370del (p.Leu124_Val125insTer)	TACR3	Deletion (frameshift variant)	See cases	GPathogenic
Select item 1612321	NM_001059.3(TACR3):c.303G>A (p.Leu101=)	TACR3	Single nucleotide variant (synonymous 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 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 1456123	NC_000004.11:g.(?_101947022)_(104640832_?)del	BANK1, BDH2 +10 more	Deletion	Beta-D-mannosidosis	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 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1331111	NM_001059.3(TACR3):c.250C>A (p.Arg84Ser)	TACR3 (R84S)	Single nucleotide variant (missense variant)	not provided	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 1310388	NM_001059.3(TACR3):c.416C>T (p.Thr139Met)	TACR3 (T139M)	Single nucleotide variant (missense variant)	not provided	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 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 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 1297173	NM_001059.3(TACR3):c.549-150G>A	TACR3	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 1292776	NM_001059.3(TACR3):c.549-114C>A	TACR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290835	NM_001059.3(TACR3):c.548+288G>A	TACR3	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 1209174	NM_001059.3(TACR3):c.888+77T>C	TACR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208965	NM_001059.3(TACR3):c.888+174A>G	TACR3	Single nucleotide variant (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 1205241	NM_001059.3(TACR3):c.1086-214C>G	TACR3, TACR3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205009	NM_001059.3(TACR3):c.548+243G>C	TACR3	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 1203064	NM_001059.3(TACR3):c.548+52T>C	TACR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199672	NM_001059.3(TACR3):c.549-267C>T	TACR3	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 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 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 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 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 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 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 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 817809	NM_001059.3(TACR3):c.447_448del (p.Ser149fs)	TACR3 (S149fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 814593	GRCh37/hg19 4q24(chr4:104279945-104727633)x3	TACR3	Copy number gain	not provided	GUncertain significance
Select item 814592	GRCh37/hg19 4q24(chr4:103865132-105720367)x1	TACR3, SLC9B2 +4 more	Copy number loss	not provided	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 734897	NM_001059.3(TACR3):c.687C>A (p.Gly229=)	TACR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729716	NM_001059.3(TACR3):c.780G>A (p.Leu260=)	TACR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726953	NM_001059.3(TACR3):c.138C>T (p.Asp46=)	TACR3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 677747	NM_001059.3(TACR3):c.-232C>G	TACR3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 672986	NM_001059.3(TACR3):c.737+264_737+265insATGTGCACATTCC	TACR3	Insertion (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 672984	NM_001059.3(TACR3):c.-271C>G	TACR3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 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

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