"GeneDx"[submitter] AND "KISS1R"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	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 1239176	NM_032551.5(KISS1R):c.-123C>T	KISS1R	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 1712680	NM_032551.5(KISS1R):c.73T>C (p.Cys25Arg)	KISS1R (C25R)	Single nucleotide variant (missense variant)	not provided	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 513725	NM_032551.5(KISS1R):c.291C>T (p.Pro97=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 516138	NM_032551.5(KISS1R):c.333C>T (p.Gly111=)	KISS1R	Single nucleotide variant (synonymous 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 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 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 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 516590	NM_032551.5(KISS1R):c.615A>C (p.Ala205=)	KISS1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 3370028	NM_032551.5(KISS1R):c.707T>C (p.Val236Ala)	KISS1R (V236A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 778800	NM_032551.5(KISS1R):c.739-3del	KISS1R	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 447660	NM_032551.5(KISS1R):c.1091T>A (p.Leu364His)	KISS1R (L364H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 379860	NM_032551.5(KISS1R):c.1155G>A (p.Ala385=)	KISS1R	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 5760	NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro)	KISS1R (R386P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 435653	NM_032551.5(KISS1R):c.1167C>A (p.Cys389Ter)	KISS1R (C389*)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 5757	NM_032551.5(KISS1R):c.1195T>A (p.Ter399Arg)	KISS1R	Single nucleotide variant (stop lost)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic

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Items: 40