ClinVar for MedGen (Select 38820) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 979158	NM_007068.4(DMC1):c.598A>G (p.Met200Val)	DMC1 (M145V +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GBenign
Select item 929787	NM_002025.4(AFF2):c.3203C>G (p.Ser1068Trp)	AFF2 (S1029W +4 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929786	NM_003399.6(XPNPEP2):c.1081G>A (p.Glu361Lys)	XPNPEP2 (E361K)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929785	NM_033656.4(BRWD1):c.656G>A (p.Arg219His)	BRWD1 (R219H)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929784	NM_007038.5(ADAMTS5):c.2176G>A (p.Gly726Arg)	ADAMTS5 (G726R)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929783	NM_006988.5(ADAMTS1):c.1304C>A (p.Ser435Tyr)	ADAMTS1 (S435Y)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929782	NM_016539.4(SIRT6):c.362G>A (p.Arg121His)	SIRT6 (R121H +1 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure	GLikely pathogenic
Select item 929781	NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)	FANCA (P1222L)	Single nucleotide variant (missense variant)	Premature ovarian failure +2 more	GConflicting classifications of pathogenicity
Select item 929780	NM_001387430.1(SH2B1):c.1846T>C (p.Ser616Pro)	SH2B1 (S280P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 929779	NM_002693.3(POLG):c.1685G>A (p.Arg562Gln)	POLG, POLGARF (R562Q)	Single nucleotide variant (missense variant)	POLG-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 929778	NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile)	BNC1 (T751I +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929777	NM_001080435.3(WHAMM):c.734C>T (p.Pro245Leu)	WHAMM (P245L)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929776	NM_003246.4(THBS1):c.1060C>T (p.Pro354Ser)	THBS1 (P354S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 929775	NM_001036.6(RYR3):c.6604G>A (p.Ala2202Thr)	RYR3 (A2202T)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929774	NM_001036.6(RYR3):c.2567C>G (p.Thr856Ser)	RYR3 (T856S)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929773	NM_001048205.2(REC8):c.1057A>C (p.Thr353Pro)	REC8 (T353P)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929772	NM_005269.3(GLI1):c.2227T>C (p.Tyr743His)	GLI1 (Y615H +2 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929771	NM_000946.3(PRIM1):c.873G>T (p.Trp291Cys)	PRIM1 (W291C)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929770	NM_015104.3(ATG2A):c.1954C>A (p.Leu652Met)	ATG2A (L652M)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929769	NM_024426.6(WT1):c.1021A>G (p.Ser341Gly)	WT1 (S107G +8 more)	Single nucleotide variant (missense variant +2 more)	Premature ovarian failure	GLikely pathogenic
Select item 929768	NM_001297719.2(BMAL1):c.18G>C (p.Met6Ile)	BMAL1 (M6I)	Single nucleotide variant (missense variant +2 more)	Premature ovarian failure	GUncertain significance
Select item 929767	NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly)	CYP17A1 (V215G)	Single nucleotide variant (missense variant)	Premature ovarian failure +1 more	GConflicting classifications of pathogenicity
Select item 929766	NM_001184785.2(PARD3):c.3181C>G (p.Gln1061Glu)	PARD3 (Q1018E +7 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929765	NM_007371.4(BRD3):c.1149G>A (p.Met383Ile)	BRD3 (M383I)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929764	NM_021224.6(ZNF462):c.3515C>G (p.Pro1172Arg)	ZNF462 (P1172R)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure	GLikely pathogenic
Select item 929763	NM_000136.3(FANCC):c.1027T>G (p.Tyr343Asp)	AOPEP, FANCC (Y343D)	Single nucleotide variant (missense variant)	Premature ovarian failure +1 more	GUncertain significance
Select item 929762	NM_004972.4(JAK2):c.436G>A (p.Asp146Asn)	INSL6, JAK2 (D146N)	Single nucleotide variant (missense variant +2 more)	Premature ovarian failure +1 more	GConflicting classifications of pathogenicity
Select item 929761	NM_021240.4(DMRT3):c.1327C>T (p.Pro443Ser)	DMRT3 (P443S)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929760	NM_002467.6(MYC):c.478G>A (p.Val160Ile)	MYC (V159I +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929759	NM_001317056.2(ATG9B):c.1480G>T (p.Glu494Ter)	ATG9B (E494*)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure	GLikely pathogenic
Select item 929758	NM_000603.5(NOS3):c.505G>A (p.Glu169Lys)	NOS3 (E169K)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929757	NM_000603.5(NOS3):c.172C>T (p.Pro58Ser)	NOS3 (P58S)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929756	NM_001080413.3(NOBOX):c.1440G>C (p.Lys480Asn)	NOBOX (K480N)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929755	NM_001282717.2(STAG3):c.1069C>T (p.Arg357Ter)	STAG3 (R299* +1 more)	Single nucleotide variant (nonsense)	Premature ovarian failure	GPathogenic
Select item 929754	NM_001395413.1(POR):c.1579C>T (p.Pro527Ser)	POR (P530S +3 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929753	NM_000876.4(IGF2R):c.451C>T (p.His151Tyr)	IGF2R (H151Y)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929752	NM_002037.5(FYN):c.206C>G (p.Ser69Cys)	FYN (S69C)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929751	NM_001718.6(BMP6):c.409C>A (p.Leu137Met)	BMP6 (L137M)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929750	NM_197941.4(ADAMTS6):c.2840G>A (p.Arg947Gln)	ADAMTS6 (R947Q)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure	GLikely pathogenic
Select item 929749	NM_152756.5(RICTOR):c.1325A>G (p.His442Arg)	RICTOR (H157R +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929748	NM_000949.7(PRLR):c.851T>G (p.Leu284Trp)	PRLR (L183W +1 more)	Single nucleotide variant (missense variant +2 more)	Premature ovarian failure	GLikely pathogenic
Select item 929747	NM_001134.3(AFP):c.1822G>A (p.Gly608Arg)	AFP (G450R +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929746	NM_004991.4(MECOM):c.3019G>A (p.Gly1007Ser)	MECOM (G1007S +8 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929745	NM_138815.4(DPPA2):c.833T>C (p.Leu278Ser)	DPPA2 (L278S)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 929744	NM_015340.4(LARS2):c.326A>G (p.Asp109Gly)	LARS2 (D109G)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929743	NM_001349232.2(ATG7):c.1261C>T (p.Leu421Phe)	ATG7 (L110F +2 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure	GUncertain significance
Select item 929742	NM_020311.3(ACKR3):c.1003T>G (p.Ser335Ala)	ACKR3 (S335A)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929741	NM_205860.3(NR5A2):c.681T>G (p.His227Gln)	NR5A2 (H155Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 929740	NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln)	NOTCH2 (R1702Q)	Single nucleotide variant (missense variant)	Premature ovarian failure +1 more	GConflicting classifications of pathogenicity
Select item 929739	NM_001321324.2(MOV10):c.2831A>G (p.Tyr944Cys)	MOV10 (Y888C +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929738	NM_207189.4(BRDT):c.1538del (p.Asp513fs)	BRDT (D440fs +3 more)	Deletion (frameshift variant)	Premature ovarian failure	GPathogenic
Select item 929737	NM_002303.6(LEPR):c.709C>T (p.Pro237Ser)	LEPR (P237S)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 929736	NM_003579.4(RAD54L):c.1900C>T (p.Arg634Cys)	LRRC41, RAD54L (R454C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Premature ovarian failure	GLikely pathogenic
Select item 929735	NM_003579.4(RAD54L):c.1883A>C (p.Glu628Ala)	LRRC41, RAD54L (E448A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Premature ovarian failure	GLikely pathogenic
Select item 929734	NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp)	RAD54L (R200W +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 929733	NM_006559.3(KHDRBS1):c.1262C>T (p.Pro421Leu)	KHDRBS1 (P382L +1 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure	GLikely pathogenic
Select item 887524	NM_000103.4(CYP19A1):c.383A>G (p.His128Arg)	CYP19A1, MIR4713HG +1 more (H128R)	Single nucleotide variant (missense variant)	Premature ovarian failure +1 more	GConflicting classifications of pathogenicity
Select item 836477	NM_001040108.2(MLH3):c.1387A>C (p.Ser463Arg)	MLH3 (S463R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 812140	NM_178822.5(IGSF10):c.7849del (p.Ala2617fs)	IGSF10 (A2617fs +1 more)	Deletion (frameshift variant)	Premature ovarian failure	GUncertain significance
Select item 812139	NM_178822.5(IGSF10):c.346A>G (p.Lys116Glu)	IGSF10 (K116E)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 812135	NM_001098537.3(PNPLA7):c.3683T>C (p.Ile1228Thr)	PNPLA7 (I1203T +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 812134	NM_178822.5(IGSF10):c.5477G>A (p.Gly1826Asp)	IGSF10 (G1826D)	Single nucleotide variant (missense variant)	Premature ovarian failure +1 more	GUncertain significance
Select item 812131	NM_000064.4(C3):c.1835C>T (p.Thr612Met)	C3 (T612M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 812130	NM_207421.4(PADI6):c.519G>C (p.Glu173Asp)	PADI6 (E173D)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 812128	GRCh37/hg19 4q31.3(chr4:154316483-154325120)	MND1	Copy number loss	Premature ovarian failure	GLikely pathogenic
Select item 779232	NM_178822.5(IGSF10):c.2237C>G (p.Pro746Arg)	IGSF10 (P746R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 728781	NM_002742.3(PRKD1):c.646C>G (p.Arg216Gly)	PRKD1 (R120G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 635953	NM_005260.7(GDF9):c.-616_-142dup	GDF9	Duplication (5 prime UTR variant +1 more)	Premature ovarian failure	GUncertain significance
Select item 635947	Single allele	DNAH6	Deletion	Premature ovarian failure	GUncertain significance
Select item 619064	NM_017696.3(MCM9):c.911A>G (p.Asn304Ser)	MCM9 (N304S +1 more)	Single nucleotide variant (missense variant +2 more)	MCM9-related disorder +2 more	GLikely benign
Select item 529225	NM_000155.4(GALT):c.667C>T (p.Arg223Cys)	GALT (R223C +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +3 more	GConflicting classifications of pathogenicity
Select item 526718	NM_002529.4(NTRK1):c.2119G>A (p.Glu707Lys)	NTRK1 (E701K +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +2 more	GConflicting classifications of pathogenicity
Select item 496583	NM_020191.4(MRPS22):c.404G>A (p.Arg135Gln)	MRPS22 (R135Q +2 more)	Single nucleotide variant (missense variant)	Premature ovarian failure	GUncertain significance
Select item 461901	NM_001036.6(RYR3):c.3092A>T (p.Lys1031Met)	RYR3 (K1031M)	Single nucleotide variant (missense variant)	Premature ovarian failure +2 more	GConflicting classifications of pathogenicity
Select item 402979	NM_002191.4(INHA):c.769G>A (p.Ala257Thr)	INHA (A257T)	Single nucleotide variant (missense variant)	INHA-related disorder +2 more	GBenign/Likely benign
Select item 375673	NM_152524.5:c.1453_1454delGA,NM_012130.3:c.254T>A	CLDN14, CLDN14-AS1 +1 more (V85D +1 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome	GPathogenic
Select item 375672	NM_152524.6(SGO2):c.1453_1454del (p.Glu485fs)	SGO2 (E485fs)	Microsatellite (frameshift variant)	Premature ovarian failure	GPathogenic
Select item 336905	NM_001004311.3(FIGLA):c.5_7delinsAGG	FIGLA	Indel (3 prime UTR variant)	Premature ovarian failure	GUncertain significance
Select item 241189	NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)	CHD7 (G522V)	Single nucleotide variant (missense variant)	CHARGE syndrome +5 more	GBenign/Likely benign
Select item 221901	GRCh37/hg19 Xq26.3(chrX:134292131-134852104)x3	ZNF75D, ZNF449 +3 more	Copy number gain	Premature ovarian failure	GBenign
Select item 221900	GRCh37/hg19 Xq12(chrX:66905875-67475065)x3	AR, OPHN1	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 221899	GRCh37/hg19 Xp11.4(chrX:38490844-38624791)x3	TSPAN7	Copy number gain	Premature ovarian failure	GBenign
Select item 221898	GRCh37/hg19 Xp21.2-21.1(chrX:31453403-31560484)x3	DMD	Copy number gain	Premature ovarian failure	GBenign
Select item 221897	GRCh37/hg19 Xp22.11(chrX:22818110-22862852)x3		Copy number gain	Premature ovarian failure	GBenign
Select item 221896	GRCh37/hg19 Xp22.31(chrX:6516735-8135053)x3	PUDP, PNPLA4 +2 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 221895	GRCh37/hg19 Xp22.31(chrX:6497085-6596639)x3		Copy number gain	Premature ovarian failure	GBenign
Select item 221894	GRCh37/hg19 22q12.3-13.1(chr22:37485062-37618530)x3	C1QTNF6, IL2RB +2 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 221893	GRCh37/hg19 22q11.23-12.1(chr22:25661725-25910879)x3		Copy number gain	Premature ovarian failure	GBenign
Select item 221892	GRCh37/hg19 22q11.22(chr22:22312879-22556358)x3	TOP3B	Copy number gain	Premature ovarian failure	GBenign
Select item 221891	GRCh37/hg19 22q11.21(chr22:20220764-21024880)x3	RTN4R, SCARF2 +9 more	Copy number gain	Premature ovarian failure	GBenign
Select item 221890	GRCh37/hg19 22q11.21(chr22:18892575-19026403)x3	DGCR2, DGCR6 +1 more	Copy number gain	Premature ovarian failure	GBenign
Select item 221889	GRCh37/hg19 21q21.3(chr21:27502468-27849346)x3	APP, CYYR1	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 221888	GRCh37/hg19 21q21.1-21.2(chr21:19888645-25594975)x3	NCAM2	Copy number gain	Premature ovarian failure	GBenign
Select item 221887	GRCh37/hg19 20p11.21(chr20:23619740-23727830)x3	CST4	Copy number gain	Premature ovarian failure	GBenign
Select item 221886	GRCh37/hg19 19q13.41(chr19:52272131-52588718)x3	ZNF613, ZNF614 +8 more	Copy number gain	Premature ovarian failure	GBenign
Select item 221885	GRCh37/hg19 19q13.33(chr19:48085766-48160500)x3	BICRA	Copy number gain	Premature ovarian failure	GBenign
Select item 221884	GRCh37/hg19 19q13.11(chr19:34480641-34687560)x3	LSM14A	Copy number gain	Premature ovarian failure	GBenign
Select item 221883	GRCh37/hg19 19p12(chr19:20835290-20987550)x3	ZNF626	Copy number gain	Premature ovarian failure	GBenign
Select item 221882	GRCh37/hg19 18q22.1(chr18:65274155-65597947)x3		Copy number gain	Premature ovarian failure	GBenign
Select item 221881	GRCh37/hg19 18p11.21(chr18:14774429-15375878)x3	ANKRD30B	Copy number gain	Premature ovarian failure	GBenign

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