ClinVar for Gene (Select 84634) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 179

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391863	GRCh37/hg19 19p13.3(chr19:260912-2934171)x3	ABCA7, ABHD17A +95 more	Copy number gain	not provided	GPathogenic
Select item 3370028	NM_032551.5(KISS1R):c.707T>C (p.Val236Ala)	KISS1R (V236A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354615	NM_032551.5(KISS1R):c.1020C>A (p.Cys340Ter)	KISS1R (C340*)	Single nucleotide variant (nonsense)	KISS1R-related disorder	GUncertain significance
Select item 3337227	NM_032551.5(KISS1R):c.943A>C (p.Asn315His)	KISS1R (N315H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3288737	NM_032551.5(KISS1R):c.340A>T (p.Met114Leu)	KISS1R (M114L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288736	NM_032551.5(KISS1R):c.1124C>T (p.Ala375Val)	KISS1R (A375V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250883	NM_032551.5(KISS1R):c.683T>C (p.Leu228Pro)	KISS1R (L228P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242273	GRCh37/hg19 19p13.3(chr19:916637-1275315)x1	ABCA7, ARHGAP45 +14 more	Copy number loss	not provided	GPathogenic
Select item 3115185	NM_032551.5(KISS1R):c.977T>C (p.Leu326Pro)	KISS1R (L326P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115184	NM_032551.5(KISS1R):c.782T>A (p.Val261Asp)	KISS1R (V261D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115183	NM_032551.5(KISS1R):c.773G>A (p.Arg258Gln)	KISS1R (R258Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115182	NM_032551.5(KISS1R):c.721G>T (p.Ala241Ser)	KISS1R (A241S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115180	NM_032551.5(KISS1R):c.423G>T (p.Trp141Cys)	KISS1R (W141C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115179	NM_032551.5(KISS1R):c.1073C>T (p.Ala358Val)	KISS1R (A358V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3115178	NM_032551.5(KISS1R):c.1070C>T (p.Ala357Val)	KISS1R (A357V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 3062119	NM_032551.5(KISS1R):c.233A>G (p.Asn78Ser)	KISS1R, LOC130062853 (N78S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 8 with or without anosmia	GUncertain significance
Select item 3047532	NM_032551.5(KISS1R):c.750G>T (p.Leu250=)	KISS1R	Single nucleotide variant (synonymous variant)	KISS1R-related disorder	GLikely benign
Select item 3039834	NM_032551.5(KISS1R):c.1083G>A (p.Ala361=)	KISS1R	Single nucleotide variant (synonymous variant)	KISS1R-related disorder	GLikely benign
Select item 3036220	NM_032551.5(KISS1R):c.-4G>A	KISS1R	Single nucleotide variant (5 prime UTR variant)	KISS1R-related disorder	GLikely benign
Select item 3024692	NC_000019.10:g.917254G>A	KISS1R, LOC130062852	Single nucleotide variant	not provided	GLikely benign
Select item 3007182	NM_032551.5(KISS1R):c.739-13G>C	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986075	NM_032551.5(KISS1R):c.369+17G>A	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976200	NM_032551.5(KISS1R):c.370-12C>A	KISS1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2973527	NM_032551.5(KISS1R):c.590G>T (p.Ser197Ile)	KISS1R (S197I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969098	NM_032551.5(KISS1R):c.618G>A (p.Leu206=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899614	NM_032551.5(KISS1R):c.1101G>A (p.Gly367=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887743	NM_032551.5(KISS1R):c.435G>A (p.Val145=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885187	NM_032551.5(KISS1R):c.363C>G (p.Ile121Met)	KISS1R (I121M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2875533	NM_032551.5(KISS1R):c.725del (p.Asp242fs)	KISS1R (D242fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2847881	NM_032551.5(KISS1R):c.472C>T (p.Leu158=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	ABCA7, ABHD17A +202 more	Copy number gain	not provided	GPathogenic
Select item 2648882	NM_032551.5(KISS1R):c.1029C>T (p.Arg343=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648881	NM_032551.5(KISS1R):c.870C>T (p.Pro290=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648880	NM_032551.5(KISS1R):c.312G>A (p.Pro104=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648879	NM_032551.5(KISS1R):c.112C>T (p.Arg38Trp)	KISS1R (R38W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637681	NC_000019.9:g.(?_917332)_(921006_?)del	KISS1R	Deletion	Hypogonadotropic hypogonadism 8 with or without anosmia	GPathogenic
Select item 2602359	NM_032551.5(KISS1R):c.403G>T (p.Ala135Ser)	KISS1R (A135S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592564	NM_032551.5(KISS1R):c.992G>C (p.Arg331Pro)	KISS1R (R331P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551569	NM_032551.5(KISS1R):c.157A>T (p.Met53Leu)	KISS1R (M53L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545810	NM_032551.5(KISS1R):c.875G>A (p.Gly292Asp)	KISS1R (G292D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533809	NM_032551.5(KISS1R):c.316C>T (p.Pro106Ser)	KISS1R (P106S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514531	NM_032551.5(KISS1R):c.1103C>T (p.Ser368Phe)	KISS1R (S368F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507955	NM_032551.5(KISS1R):c.503T>C (p.Val168Ala)	KISS1R (V168A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501271	NM_032551.5(KISS1R):c.1028_1041del (p.Arg343fs)	KISS1R (R343fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2490240	NM_032551.5(KISS1R):c.68C>T (p.Pro23Leu)	KISS1R (P23L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485228	NM_032551.5(KISS1R):c.1009G>C (p.Val337Leu)	KISS1R (V337L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484577	NM_032551.5(KISS1R):c.35C>T (p.Ser12Phe)	KISS1R (S12F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455181	NM_032551.5(KISS1R):c.1112C>T (p.Ala371Val)	KISS1R (A371V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433162	NM_032551.5(KISS1R):c.505+4A>G	KISS1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2433161	NM_032551.5(KISS1R):c.1065C>G (p.Asp355Glu)	KISS1R (D355E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433160	NM_032551.5(KISS1R):c.1061C>G (p.Ser354Trp)	KISS1R (S354W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2386657	NM_032551.5(KISS1R):c.1105C>T (p.His369Tyr)	KISS1R (H369Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383327	NM_032551.5(KISS1R):c.541C>A (p.His181Asn)	KISS1R (H181N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363628	NM_032551.5(KISS1R):c.706G>T (p.Val236Leu)	KISS1R (V236L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360071	NM_032551.5(KISS1R):c.1031G>C (p.Arg344Pro)	KISS1R (R344P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331873	NM_032551.5(KISS1R):c.41G>A (p.Gly14Glu)	KISS1R (G14E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284535	NM_032551.5(KISS1R):c.167G>A (p.Gly56Asp)	KISS1R (G56D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278282	NM_032551.5(KISS1R):c.301C>G (p.Leu101Val)	KISS1R (L101V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195663	NM_032551.5(KISS1R):c.623A>G (p.Asn208Ser)	KISS1R (N208S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2085659	NM_032551.5(KISS1R):c.47C>T (p.Pro16Leu)	KISS1R (P16L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2065675	NM_032551.5(KISS1R):c.1019del (p.Cys340fs)	KISS1R (C340fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2006669	NM_032551.5(KISS1R):c.505+7A>G	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996429	NM_032551.5(KISS1R):c.369+1G>T	KISS1R	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1938093	NM_032551.5(KISS1R):c.872C>T (p.Ala291Val)	KISS1R (A291V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914414	NM_032551.5(KISS1R):c.739-4C>A	KISS1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1712680	NM_032551.5(KISS1R):c.73T>C (p.Cys25Arg)	KISS1R (C25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708371	NM_032551.5(KISS1R):c.*9G>A	KISS1R	Single nucleotide variant (3 prime UTR variant)	See cases	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ATP5F1D, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 1590131	NM_032551.5(KISS1R):c.18G>A (p.Thr6=)	KISS1R	Single nucleotide variant (synonymous variant)	Central precocious puberty 1 +2 more	GBenign/Likely benign
Select item 1587376	NM_032551.5(KISS1R):c.587C>A (p.Pro196His)	KISS1R (P196H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1554387	NM_032551.5(KISS1R):c.216G>A (p.Pro72=)	KISS1R, LOC130062853	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522500	NM_032551.5(KISS1R):c.724G>C (p.Asp242His)	KISS1R (D242H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495248	NM_032551.5(KISS1R):c.238T>C (p.Tyr80His)	KISS1R, LOC130062853 (Y80H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1477624	NM_032551.5(KISS1R):c.1123G>A (p.Ala375Thr)	KISS1R (A375T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434808	NM_032551.5(KISS1R):c.621del (p.Leu206_Tyr207insTer)	KISS1R	Deletion (nonsense)	not provided	GPathogenic
Select item 1432191	NM_032551.5(KISS1R):c.772C>T (p.Arg258Trp)	KISS1R (R258W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403012	NM_032551.5(KISS1R):c.767C>G (p.Ala256Gly)	KISS1R (A256G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1362808	NM_032551.5(KISS1R):c.476C>A (p.Ala159Glu)	KISS1R (A159E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348905	NM_032551.5(KISS1R):c.1159G>C (p.Gly387Arg)	KISS1R (G387R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339093	NM_032551.5(KISS1R):c.82A>C (p.Asn28His)	KISS1R (N28H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 8 with or without anosmia	GUncertain significance
Select item 1335315	NM_032551.5(KISS1R):c.506-1G>A	KISS1R	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1324626	NM_032551.5(KISS1R):c.152del (p.Ala51fs)	KISS1R (A51fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1292729	NM_032551.5(KISS1R):c.245-133del	KISS1R	Deletion (intron variant)	not provided	GBenign
Select item 1291544	NM_032551.5(KISS1R):c.738+64G>T	KISS1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270688	NM_032551.5(KISS1R):c.505+31A>G	KISS1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269406	NM_032551.5(KISS1R):c.244+128C>T	KISS1R, LOC130062853	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262716	NM_032551.5(KISS1R):c.245-34G>A	KISS1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251397	NM_032551.5(KISS1R):c.506-60G>T	KISS1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247766	NM_032551.5(KISS1R):c.369+163A>C	KISS1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243077	NM_032551.5(KISS1R):c.739-38C>A	KISS1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239176	NM_032551.5(KISS1R):c.-123C>T	KISS1R	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1211735	NM_032551.5(KISS1R):c.370-53G>A	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208163	NM_032551.5(KISS1R):c.369+242G>A	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204394	NM_032551.5(KISS1R):c.244+183C>T	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 2