C5816691[trait identifier] AND "Center for Reproductive Medicine, Shan - ClinVar

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

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1256043	NM_002440.4(MSH4):c.1025C>T (p.Thr342Ile)	MSH4 (T342I)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1255997	NM_002440.4(MSH4):c.1063A>G (p.Ile355Val)	MSH4 (I355V)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256012	NM_002440.4(MSH4):c.1855A>G (p.Met619Val)	MSH4 (M619V)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256044	NM_002440.4(MSH4):c.2222_2225del (p.Lys741fs)	MSH4 (K741fs)	Deletion (frameshift variant)	Genetic non-acquired premature ovarian failure +1 more	GPathogenic
Select item 1256001	NM_002440.4(MSH4):c.2374A>G (p.Thr792Ala)	MSH4 (T792A)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256045	NM_002440.4(MSH4):c.2728C>T (p.Arg910Ter)	MSH4 (R910*)	Single nucleotide variant (nonsense)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1256008	NM_001017975.6(HFM1):c.1978-2A>C	HFM1	Single nucleotide variant (splice acceptor variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1256009	NM_001017975.6(HFM1):c.1880T>C (p.Val627Ala)	HFM1 (V627A)	Single nucleotide variant (missense variant +1 more)	Genetic non-acquired premature ovarian failure	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 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 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 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 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 1256041	NM_000145.4(FSHR):c.374T>G (p.Leu125Arg)	FSHR (L125R)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256023	NM_000145.4(FSHR):c.349C>T (p.Gln117Ter)	FSHR (Q117*)	Single nucleotide variant (nonsense)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1256037	NM_001004311.3(FIGLA):c.326G>A (p.Gly109Asp)	FIGLA (G109D)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256003	NM_001004311.3(FIGLA):c.319C>T (p.Leu107Phe)	FIGLA (L107F)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256046	NM_001004311.3(FIGLA):c.11C>A (p.Ala4Glu)	FIGLA (A4E)	Single nucleotide variant (missense variant)	Premature ovarian failure 6	GUncertain significance
Select item 1256042	NM_001204.7(BMPR2):c.961_963dup (p.Arg321dup)	BMPR2	Duplication (inframe_insertion)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 333642	NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile)	BMPR2 (V348I)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension +3 more	GConflicting classifications of pathogenicity
Select item 333645	NM_001204.7(BMPR2):c.1481C>T (p.Ala494Val)	BMPR2 (A494V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GLikely benign
Select item 1256002	NM_001204.7(BMPR2):c.1585C>T (p.Arg529Cys)	BMPR2 (R529C)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GUncertain significance
Select item 425999	NM_001204.7(BMPR2):c.2618G>A (p.Arg873Gln)	BMPR2 (R873Q)	Single nucleotide variant (missense variant)	Primary pulmonary hypertension	GLikely benign
Select item 134454	NM_023067.4(FOXL2):c.1045C>G (p.Arg349Gly)	FOXL2 (R349G)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256027	NM_023067.4(FOXL2):c.871dup (p.His291fs)	FOXL2 (H291fs)	Duplication (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1255995	NM_023067.4(FOXL2):c.789C>A (p.Ser263Arg)	FOXL2 (S263R)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256021	NM_023067.4(FOXL2):c.553G>C (p.Gly185Arg)	FOXL2 (G185R)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1120011	NM_020227.4(PRDM9):c.229C>T (p.Arg77Ter)	PRDM9 (R77*)	Single nucleotide variant (nonsense)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1120012	NM_020227.4(PRDM9):c.638T>G (p.Ile213Ser)	PRDM9 (I213S)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1120013	NM_020227.4(PRDM9):c.677A>T (p.Lys226Met)	PRDM9 (K226M)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1120014	NM_001372053.1(ANKRD31):c.1565-2A>G	ANKRD31	Single nucleotide variant (splice acceptor variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1120015	NM_001372053.1(ANKRD31):c.985C>T (p.Gln329Ter)	ANKRD31 (Q329*)	Single nucleotide variant (nonsense)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1256000	NM_005260.7(GDF9):c.1283G>C (p.Ser428Thr)	GDF9 (S340T +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256006	NM_005260.7(GDF9):c.946C>T (p.Arg316Cys)	GDF9 (R228C +1 more)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1255996	NM_172166.4(MSH5):c.826C>T (p.Arg276Cys)	MSH5, MSH5-SAPCD1 (R276C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256029	NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly)	MSH5, MSH5-SAPCD1 (R351G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MSH5-related condition +2 more	GBenign
Select item 1255994	NM_001080413.3(NOBOX):c.2041dup (p.Ala681fs)	NOBOX (A681fs)	Duplication (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1256031	NM_001080413.3(NOBOX):c.1674_1677del (p.Phe559fs)	NOBOX (F559fs)	Deletion (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1256013	NM_001080413.3(NOBOX):c.1298G>T (p.Gly433Val)	NOBOX (G433V)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256030	NM_001080413.3(NOBOX):c.1199C>T (p.Pro400Leu)	NOBOX (P400L)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256025	NM_001080413.3(NOBOX):c.1131del (p.Gly378fs)	NOBOX (G378fs)	Deletion (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1083	NM_001080413.3(NOBOX):c.1064G>A (p.Arg355His)	NOBOX (R355H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1255998	NM_001080394.4(SPIDR):c.776+1G>T	SPIDR	Single nucleotide variant (splice donor variant +1 more)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1255999	NM_001080394.4(SPIDR):c.2265del (p.Cys756fs)	SPIDR (C261fs +12 more)	Deletion (frameshift variant +1 more)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 449434	NM_004959.5(NR5A1):c.938G>A (p.Arg313His)	NR5A1 (R313H)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +2 more	GPathogenic/Likely pathogenic
Select item 372437	NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys)	NR5A1 (R313C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1256024	NM_004959.5(NR5A1):c.909C>A (p.Ser303Arg)	NR5A1 (S303R)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256015	NM_004959.5(NR5A1):c.565C>A (p.Pro189Thr)	NR5A1 (P189T)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256020	NM_004959.5(NR5A1):c.559del (p.Ala187fs)	NR5A1 (A187fs)	Deletion (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1256011	NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys)	NR5A1 (R84C)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GLikely pathogenic
Select item 1256014	NM_001101677.2(SOHLH1):c.244C>G (p.Gln82Glu)	SOHLH1 (Q82E)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256026	NM_001277058.2(ERCC6):c.3100G>T (p.Glu1034Ter)	ERCC6, PGBD3 (E1034* +1 more)	Single nucleotide variant (nonsense +1 more)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 877820	NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys)	ERCC6 (E272K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1256033	NM_020547.3(AMHR2):c.55C>G (p.Pro19Ala)	AMHR2 (P19A)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256035	NM_020547.3(AMHR2):c.355A>G (p.Asn119Asp)	AMHR2 (N119D)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256005	NM_020547.3(AMHR2):c.515G>A (p.Arg172Gln)	AMHR2 (R172Q)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256004	NM_020547.3(AMHR2):c.775C>T (p.Arg259Ter)	AMHR2 (R259*)	Single nucleotide variant (nonsense)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 627535	NM_000059.4(BRCA2):c.68-1G>C	BRCA2	Single nucleotide variant (splice acceptor variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 51649	NM_000059.4(BRCA2):c.4440T>G (p.Tyr1480Ter)	BRCA2 (Y1480*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 140975	NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)	BRCA2 (D2723V)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 38260	NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic FDA Recognized database
Select item 1256028	NM_032940.3(POLR2C):c.77C>G (p.Thr26Ser)	LOC112469008, POLR2C (T26S)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256007	NM_032940.3(POLR2C):c.544G>T (p.Val182Leu)	POLR2C (V182L)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 187378	NM_032043.3(BRIP1):c.1A>G (p.Met1Val)	BRIP1 (M1V)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 1256034	NM_000479.5(AMH):c.1393C>T (p.Arg465Cys)	AMH (R465C)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1232307	NM_144688.5(KASH5):c.747G>A (p.Ala249=)	KASH5	Single nucleotide variant (synonymous variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256022	NM_148674.5(SMC1B):c.863A>G (p.Glu288Gly)	SMC1B (E288G)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256010	NM_005448.2(BMP15):c.208A>C (p.Met70Leu)	BMP15 (M70L)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256036	NM_005448.2(BMP15):c.919C>T (p.His307Tyr)	BMP15 (H307Y)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256018	NM_006667.5(PGRMC1):c.272T>C (p.Met91Thr)	PGRMC1 (M91T)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256016	NM_006667.5(PGRMC1):c.418G>C (p.Asp140His)	PGRMC1 (D140H)	Single nucleotide variant (missense variant +1 more)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256017	NM_006667.5(PGRMC1):c.533C>T (p.Thr178Ile)	PGRMC1 (T126I +1 more)	Single nucleotide variant (missense variant)	PGRMC1-related condition	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 72