ClinVar for MedGen (Select 38966) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 898968	NM_000145.4(FSHR):c.-96A>C	FSHR	Single nucleotide variant (5 prime UTR variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 898896	NM_000145.4(FSHR):c.496G>T (p.Val166Leu)	FSHR (V166L)	Single nucleotide variant (missense variant +1 more)	Ovarian hyperstimulation syndrome +2 more	GConflicting classifications of pathogenicity
Select item 898895	NM_000145.4(FSHR):c.510T>G (p.Phe170Leu)	FSHR (F170L)	Single nucleotide variant (missense variant +1 more)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
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 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 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 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 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 897816	NM_000145.4(FSHR):c.135G>A (p.Pro45=)	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 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 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 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 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 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 896210	NM_000145.4(FSHR):c.176G>A (p.Arg59Gln)	FSHR (R59Q)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 896209	NM_000145.4(FSHR):c.180C>T (p.Val60=)	FSHR	Single nucleotide variant (synonymous variant)	Ovarian hyperstimulation syndrome +1 more	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 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 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 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 895934	NM_000145.4(FSHR):c.351G>A (p.Gln117=)	FSHR	Single nucleotide variant (synonymous variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 895933	NM_000145.4(FSHR):c.455A>C (p.Gln152Pro)	FSHR (Q152P)	Single nucleotide variant (missense variant +1 more)	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 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 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 595880	NM_000145.4(FSHR):c.399G>A (p.Lys133=)	FSHR	Single nucleotide variant (synonymous variant)	Ovarian dysgenesis 1 +2 more	GUncertain significance
Select item 369344	NM_000145.3(FSHR):c.-114T>C	FSHR	Single nucleotide variant	Ovarian hyperstimulation syndrome +2 more	GLikely benign
Select item 336494	NM_000145.4(FSHR):c.-58T>C	FSHR	Single nucleotide variant (5 prime UTR variant)	Ovarian dysgenesis 1 +1 more	GUncertain significance
Select item 336493	NM_000145.4(FSHR):c.219G>A (p.Glu73=)	FSHR	Single nucleotide variant (synonymous variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 336492	NM_000145.4(FSHR):c.225-11T>C	FSHR	Single nucleotide variant (intron variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 336491	NM_000145.4(FSHR):c.373C>A (p.Leu125Met)	FSHR (L125M)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome +1 more	GUncertain significance
Select item 336490	NM_000145.4(FSHR):c.446+10T>C	FSHR	Single nucleotide variant (intron variant)	Ovarian dysgenesis 1 +3 more	GConflicting classifications of pathogenicity
Select item 336489	NM_000145.4(FSHR):c.485G>A (p.Arg162Lys)	FSHR (R162K)	Single nucleotide variant (missense variant +1 more)	FSHR-related condition +3 more	GConflicting classifications of pathogenicity
Select item 336488	NM_000145.4(FSHR):c.603C>T (p.Ser201=)	FSHR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 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 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 336475	NM_000145.4(FSHR):c.*256C>T	FSHR	Single nucleotide variant (3 prime UTR variant)	Ovarian dysgenesis 1 +2 more	GBenign
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 255348	NM_000145.4(FSHR):c.24G>T (p.Leu8Phe)	FSHR (L8F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 137403	NM_000145.4(FSHR):c.-29G>A	FSHR	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 16254	NM_000145.4(FSHR):c.383C>A (p.Ser128Tyr)	FSHR (S128Y)	Single nucleotide variant (missense variant)	Ovarian hyperstimulation syndrome	GPathogenic
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 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 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 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 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 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 16244	NM_000145.4(FSHR):c.479T>C (p.Ile160Thr)	FSHR (I160T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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Links from MedGen

Items: 62