4510[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 145089	GRCh38/hg38 19p13.3(chr19:839492-995558)x1	ARID3A, CFD +27 more	Copy number loss	See cases	GPathogenic
Select item 672983	NM_032551.4(KISS1R):c.-406C>G	KISS1R, LOC130062851	Single nucleotide variant	not provided	GLikely benign
Select item 3024692	NC_000019.10:g.917254G>A	KISS1R, LOC130062852	Single nucleotide variant	not provided	GLikely benign
Select item 1239176	NM_032551.5(KISS1R):c.-123C>T	KISS1R	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 769943	NM_032551.5(KISS1R):c.9C>T (p.Thr3=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 286524	NM_032551.5(KISS1R):c.24A>G (p.Gly8=)	KISS1R	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 8 with or without anosmia +2 more	GBenign
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 2331873	NM_032551.5(KISS1R):c.41G>A (p.Gly14Glu)	KISS1R (G14E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2490240	NM_032551.5(KISS1R):c.68C>T (p.Pro23Leu)	KISS1R (P23L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2648879	NM_032551.5(KISS1R):c.112C>T (p.Arg38Trp)	KISS1R (R38W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745827	NM_032551.5(KISS1R):c.114G>T (p.Arg38=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1324626	NM_032551.5(KISS1R):c.152del (p.Ala51fs)	KISS1R (A51fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 66010	NM_032551.5(KISS1R):c.167del (p.Gly56fs)	KISS1R (G56fs)	Deletion (frameshift variant)	not provided	Gnot provided
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 1554387	NM_032551.5(KISS1R):c.216G>A (p.Pro72=)	KISS1R, LOC130062853	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1269406	NM_032551.5(KISS1R):c.244+128C>T	KISS1R, LOC130062853	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204394	NM_032551.5(KISS1R):c.244+183C>T	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197209	NM_032551.5(KISS1R):c.245-196T>C	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183231	NM_032551.5(KISS1R):c.245-142C>T	KISS1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676786	NM_032551.5(KISS1R):c.245-133_245-130del	KISS1R	Deletion (intron variant)	not provided	GBenign
Select item 1201415	NM_032551.5(KISS1R):c.245-133_245-131del	KISS1R	Deletion (intron variant)	not provided	GLikely benign
Select item 1292729	NM_032551.5(KISS1R):c.245-133del	KISS1R	Deletion (intron variant)	not provided	GBenign
Select item 675234	NM_032551.5(KISS1R):c.245-133A>G	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262716	NM_032551.5(KISS1R):c.245-34G>A	KISS1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 750455	NM_032551.5(KISS1R):c.279G>A (p.Leu93=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 513725	NM_032551.5(KISS1R):c.291C>T (p.Pro97=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 5759	NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro)	KISS1R (L102P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 749150	NM_032551.5(KISS1R):c.306G>C (p.Leu102=)	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 2533809	NM_032551.5(KISS1R):c.316C>T (p.Pro106Ser)	KISS1R (P106S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 516138	NM_032551.5(KISS1R):c.333C>T (p.Gly111=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 1996429	NM_032551.5(KISS1R):c.369+1G>T	KISS1R	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 994640	NM_032551.5(KISS1R):c.369+5G>A	KISS1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 748588	NM_032551.5(KISS1R):c.369+10G>A	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 1247766	NM_032551.5(KISS1R):c.369+163A>C	KISS1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208163	NM_032551.5(KISS1R):c.369+242G>A	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201979	NM_032551.5(KISS1R):c.369+271G>A	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211735	NM_032551.5(KISS1R):c.370-53G>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 756088	NM_032551.5(KISS1R):c.395C>T (p.Thr132Ile)	KISS1R (T132I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3115180	NM_032551.5(KISS1R):c.423G>T (p.Trp141Cys)	KISS1R (W141C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2887743	NM_032551.5(KISS1R):c.435G>A (p.Val145=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 800826	NM_032551.5(KISS1R):c.439C>T (p.Pro147Ser)	KISS1R (P147S)	Single nucleotide variant (missense variant)	Central precocious puberty 1	GUncertain significance
Select item 5755	NM_032551.5(KISS1R):c.443T>C (p.Leu148Ser)	KISS1R (L148S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 8 without anosmia	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 501518	NM_032551.5(KISS1R):c.472C>G (p.Leu158Val)	KISS1R (L158V)	Single nucleotide variant (missense variant)	not provided	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 2507955	NM_032551.5(KISS1R):c.503T>C (p.Val168Ala)	KISS1R (V168A)	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 2006669	NM_032551.5(KISS1R):c.505+7A>G	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270688	NM_032551.5(KISS1R):c.505+31A>G	KISS1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189329	NM_032551.5(KISS1R):c.505+80G>T	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198251	NM_032551.5(KISS1R):c.506-118G>A	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251397	NM_032551.5(KISS1R):c.506-60G>T	KISS1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1335315	NM_032551.5(KISS1R):c.506-1G>A	KISS1R	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
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 235657	NM_032551.5(KISS1R):c.565G>A (p.Ala189Thr)	KISS1R (A189T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 546246	NM_032551.5(KISS1R):c.574A>G (p.Ser192Gly)	KISS1R (S192G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 50861	NM_032551.5(KISS1R):c.581C>A (p.Ala194Asp)	KISS1R (A194D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2973527	NM_032551.5(KISS1R):c.590G>T (p.Ser197Ile)	KISS1R (S197I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725901	NM_032551.5(KISS1R):c.609C>T (p.Ala203=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 516590	NM_032551.5(KISS1R):c.615A>C (p.Ala205=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2969098	NM_032551.5(KISS1R):c.618G>A (p.Leu206=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434808	NM_032551.5(KISS1R):c.621del (p.Leu206_Tyr207insTer)	KISS1R	Deletion (nonsense)	not provided	GPathogenic
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 3250883	NM_032551.5(KISS1R):c.683T>C (p.Leu228Pro)	KISS1R (L228P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719576	NM_032551.5(KISS1R):c.687C>T (p.Arg229=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 3370028	NM_032551.5(KISS1R):c.707T>C (p.Val236Ala)	KISS1R (V236A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978562	NM_032551.5(KISS1R):c.710G>C (p.Arg237Pro)	KISS1R (R237P)	Single nucleotide variant (missense variant)	Pituitary stalk interruption syndrome	GLikely pathogenic
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 1522500	NM_032551.5(KISS1R):c.724G>C (p.Asp242His)	KISS1R (D242H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875533	NM_032551.5(KISS1R):c.725del (p.Asp242fs)	KISS1R (D242fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1176066	NM_032551.5(KISS1R):c.735del (p.Gln246fs)	KISS1R (Q246fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1291544	NM_032551.5(KISS1R):c.738+64G>T	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 3007182	NM_032551.5(KISS1R):c.739-13G>C	KISS1R	Single nucleotide variant (intron variant)	not provided	GLikely benign

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