FSHR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 153714	GRCh38/hg38 2p16.3(chr2:48543380-49241978)x3	FSHR, GTF2A1L +10 more	Copy number gain	See cases	GUncertain significance
Select item 154470	GRCh38/hg38 2p16.3(chr2:48581695-49195508)x3	FSHR, GTF2A1L +10 more	Copy number gain	See cases	GLikely benign
Select item 154949	GRCh38/hg38 2p16.3(chr2:48929614-50839499)x1	FSHR, LOC110121071 +8 more	Copy number loss	See cases	GPathogenic
Select item 151404	GRCh38/hg38 2p16.3(chr2:48929614-49049127)x1	FSHR, LOC129933725 +2 more	Copy number loss	See cases	GLikely benign
Select item 897605	NM_000145.4(FSHR):c.*574T>C	FSHR	Single nucleotide variant (3 prime UTR variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 336474	NM_000145.4(FSHR):c.*563T>C	FSHR	Single nucleotide variant (3 prime UTR variant)	Ovarian hyperstimulation syndrome +1 more	GLikely benign
Select item 897606	NM_000145.4(FSHR):c.*321A>T	FSHR	Single nucleotide variant (3 prime UTR variant)	Ovarian dysgenesis 1 +1 more	GConflicting classifications of pathogenicity
Select item 336475	NM_000145.4(FSHR):c.*256C>T	FSHR	Single nucleotide variant (3 prime UTR variant)	Ovarian dysgenesis 1 +2 more	GBenign
Select item 336476	NM_000145.4(FSHR):c.*246T>A	FSHR	Single nucleotide variant (3 prime UTR variant)	Ovarian dysgenesis 1 +2 more	GLikely benign
Select item 336477	NM_000145.4(FSHR):c.*199A>G	FSHR	Single nucleotide variant (3 prime UTR variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 898763	NM_000145.4(FSHR):c.*173G>A	FSHR	Single nucleotide variant (3 prime UTR variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 336478	NM_000145.4(FSHR):c.*111T>C	FSHR	Single nucleotide variant (3 prime UTR variant)	Ovarian dysgenesis 1 +1 more	GLikely benign
Select item 16247	NM_000145.4(FSHR):c.2039G>A (p.Ser680Asn)	FSHR (S654N +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2276507	NM_000145.4(FSHR):c.1988A>C (p.His663Pro)	FSHR (H663P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272617	NM_000145.4(FSHR):c.1982C>T (p.Thr661Ile)	FSHR (T661I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 895792	NM_000145.4(FSHR):c.1902C>T (p.Arg634=)	FSHR	Single nucleotide variant (synonymous variant)	Ovarian dysgenesis 1 +1 more	GUncertain significance
Select item 996018	NM_000145.4(FSHR):c.1862C>T (p.Ala621Val)	FSHR (A595V +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GLikely pathogenic
Select item 336479	NM_000145.4(FSHR):c.1831C>G (p.Leu611Val)	FSHR (L611V +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 752789	NM_000145.4(FSHR):c.1812G>A (p.Val604=)	FSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 56032	NM_000145.4(FSHR):c.1801C>G (p.Leu601Val)	FSHR (L575V +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GLikely pathogenic
Select item 1256038	NM_000145.4(FSHR):c.1763T>C (p.Ile588Thr)	FSHR (I562T +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 29704	NM_000145.4(FSHR):c.1760C>A (p.Pro587His)	FSHR (P587H +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GPathogenic/Likely pathogenic
Select item 3047465	NM_000145.4(FSHR):c.1752C>T (p.Cys584=)	FSHR	Single nucleotide variant (synonymous variant)	FSHR-related condition	GLikely benign
Select item 56031	NM_000145.4(FSHR):c.1724C>T (p.Ala575Val)	FSHR (A549V +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GLikely pathogenic
Select item 16245	NM_000145.4(FSHR):c.1717C>T (p.Arg573Cys)	FSHR (R573C +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GPathogenic
Select item 16250	NM_000145.4(FSHR):c.1699G>A (p.Asp567Asn)	FSHR (D567N +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome	GPathogenic
Select item 1256040	NM_000145.4(FSHR):c.1679_1685del (p.Asn560fs)	FSHR (N534fs +1 more)	Deletion (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1137986	NM_000145.4(FSHR):c.1684G>A (p.Val562Met)	FSHR (V536M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1675781	NM_000145.4(FSHR):c.1683C>T (p.Ile561=)	FSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741967	NM_000145.4(FSHR):c.1680C>T (p.Asn560=)	FSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 896078	NM_000145.4(FSHR):c.1677C>T (p.Pro559=)	FSHR	Single nucleotide variant (synonymous variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 391963	NM_000145.4(FSHR):c.1672A>C (p.Asn558His)	FSHR (N558H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339879	NM_000145.4(FSHR):c.1669C>T (p.Arg557Trp)	FSHR (R531W +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	Gnot provided
Select item 896079	NM_000145.4(FSHR):c.1664C>T (p.Thr555Ile)	FSHR (T529I +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 16253	NM_000145.4(FSHR):c.1634T>C (p.Ile545Thr)	FSHR (I545T +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome	GPathogenic
Select item 336480	NM_000145.4(FSHR):c.1596G>A (p.Met532Ile)	FSHR (M532I +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 336481	NM_000145.4(FSHR):c.1576T>C (p.Leu526=)	FSHR	Single nucleotide variant (synonymous variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 762853	NM_000145.4(FSHR):c.1572C>T (p.Ser524=)	FSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757090	NM_000145.4(FSHR):c.1572C>G (p.Ser524Arg)	FSHR (S524R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 16251	NM_000145.4(FSHR):c.1555C>A (p.Pro519Thr)	FSHR (P519T +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GPathogenic
Select item 1339880	NM_000145.4(FSHR):c.1501G>A (p.Ala501Thr)	FSHR (A475T +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	Gnot provided
Select item 2457398	NM_000145.4(FSHR):c.1466T>C (p.Val489Ala)	FSHR (V489A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276835	NM_000145.4(FSHR):c.1405C>T (p.His469Tyr)	FSHR (H469Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 897666	NM_000145.4(FSHR):c.1400G>T (p.Arg467Ile)	FSHR (R467I +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 1256019	NM_000145.4(FSHR):c.1396G>A (p.Glu466Lys)	FSHR (E440K +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 996017	NM_000145.4(FSHR):c.1384G>C (p.Ala462Pro)	FSHR (A436P +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GLikely pathogenic
Select item 3027273	NM_000145.4(FSHR):c.1365G>C (p.Leu455=)	FSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258404	NM_000145.4(FSHR):c.1348G>A (p.Val450Ile)	FSHR (V450I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 16249	NM_000145.4(FSHR):c.1346C>T (p.Thr449Ile)	FSHR (T449I +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome	GPathogenic
Select item 16252	NM_000145.4(FSHR):c.1345A>G (p.Thr449Ala)	FSHR (T449A +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome	GPathogenic
Select item 988344	NM_000145.4(FSHR):c.1336G>A (p.Gly446Ser)	FSHR (G420S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 336482	NM_000145.4(FSHR):c.1330G>A (p.Ala444Thr)	FSHR (A444T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 16248	NM_000145.4(FSHR):c.1255G>A (p.Ala419Thr)	FSHR (A393T +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GPathogenic
Select item 2319348	NM_000145.4(FSHR):c.1226T>C (p.Leu409Pro)	FSHR (L383P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388499	NM_000145.4(FSHR):c.1203G>A (p.Met401Ile)	FSHR (M375I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 897667	NM_000145.4(FSHR):c.1173A>G (p.Gln391=)	FSHR	Single nucleotide variant (synonymous variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 1189527	NM_000145.4(FSHR):c.1157T>C (p.Ile386Thr)	FSHR (I360T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 898830	NM_000145.4(FSHR):c.1145T>C (p.Ile382Thr)	FSHR (I356T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 812692	NM_000145.4(FSHR):c.1121T>A (p.Ile374Asn)	FSHR (I374N +1 more)	Single nucleotide variant (missense variant)	Dizygotic twins	GUncertain significance
Select item 898831	NM_000145.4(FSHR):c.1094T>C (p.Leu365Pro)	FSHR (L339P +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 2311847	NM_000145.4(FSHR):c.1073A>T (p.Asp358Val)	FSHR (D332V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 56030	NM_000145.4(FSHR):c.1043C>G (p.Pro348Arg)	FSHR (P322R +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GLikely pathogenic
Select item 2362694	NM_000145.4(FSHR):c.1030G>A (p.Val344Met)	FSHR (V344M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 336483	NM_000145.4(FSHR):c.1030G>C (p.Val344Leu)	FSHR (V344L +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 898832	NM_000145.4(FSHR):c.1022T>C (p.Val341Ala)	FSHR (V341A +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3041769	NM_000145.4(FSHR):c.987G>T (p.Thr329=)	FSHR	Single nucleotide variant (synonymous variant)	FSHR-related condition	GLikely benign
Select item 718987	NM_000145.4(FSHR):c.987G>A (p.Thr329=)	FSHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 898833	NM_000145.4(FSHR):c.956A>G (p.Glu319Gly)	FSHR (E319G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 336484	NM_000145.4(FSHR):c.947A>G (p.Glu316Gly)	FSHR (E316G +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 895869	NM_000145.4(FSHR):c.926G>T (p.Gly309Val)	FSHR (G283V +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1 +1 more	GUncertain significance
Select item 16246	NM_000145.4(FSHR):c.919G>A (p.Ala307Thr)	FSHR (A281T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 896140	NM_000145.4(FSHR):c.898G>A (p.Glu300Lys)	FSHR (E274K +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 2558540	NM_000145.4(FSHR):c.893G>A (p.Arg298Lys)	FSHR (R272K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1256032	NM_000145.4(FSHR):c.884C>T (p.Ser295Phe)	FSHR (S269F +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 2489374	NM_000145.4(FSHR):c.883T>C (p.Ser295Pro)	FSHR (S269P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1257596	NM_000145.4(FSHR):c.855-114dup	FSHR	Duplication (intron variant)	not provided	GBenign
Select item 2571079	NM_000145.4(FSHR):c.854+5G>A	FSHR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1211023	NM_000145.4(FSHR):c.854+1G>A	FSHR	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 391834	NM_000145.4(FSHR):c.803G>T (p.Ser268Ile)	FSHR (S268I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 336485	NM_000145.4(FSHR):c.786C>T (p.Val262=)	FSHR	Single nucleotide variant (synonymous variant)	Ovarian hyperstimulation syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2484572	NM_000145.4(FSHR):c.734G>A (p.Arg245Lys)	FSHR (R245K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1709993	NM_000145.4(FSHR):c.710G>A (p.Gly237Asp)	FSHR (G211D +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome	GUncertain significance
Select item 896141	NM_000145.4(FSHR):c.707A>G (p.Tyr236Cys)	FSHR (Y210C +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 336486	NM_000145.4(FSHR):c.688A>G (p.Ile230Val)	FSHR (I230V +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 336487	NM_000145.4(FSHR):c.685A>G (p.Arg229Gly)	FSHR (R229G +1 more)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +2 more	GUncertain significance
Select item 1256039	NM_000145.4(FSHR):c.683C>T (p.Thr228Ile)	FSHR (T202I +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 56034	NM_000145.4(FSHR):c.671A>T (p.Asp224Val)	FSHR (D198V +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GLikely pathogenic
Select item 1188658	NM_000145.4(FSHR):c.668+268T>G	FSHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 56033	NM_000145.4(FSHR):c.662T>G (p.Val221Gly)	FSHR (V195G +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GLikely pathogenic
Select item 842477	NM_000145.4(FSHR):c.658C>T (p.Pro220Ser)	FSHR (P194S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 897743	NM_000145.4(FSHR):c.645C>T (p.His215=)	FSHR	Single nucleotide variant (synonymous variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 897744	NM_000145.4(FSHR):c.636T>C (p.Asp212=)	FSHR	Single nucleotide variant (synonymous variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 336488	NM_000145.4(FSHR):c.603C>T (p.Ser201=)	FSHR	Single nucleotide variant (synonymous variant)	FSHR-related condition +3 more	GBenign/Likely benign
Select item 255349	NM_000145.4(FSHR):c.594-45T>C	FSHR	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 16243	NM_000145.4(FSHR):c.566C>T (p.Ala189Val)	FSHR (A189V +1 more)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 1	GPathogenic
Select item 1235583	NM_000145.4(FSHR):c.525-37T>C	FSHR	Single nucleotide variant (intron variant)	not provided	GBenign

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