ClinVar for MedGen (Select 9963) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1706435	NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter)	MRPS7 (K125*)	Single nucleotide variant (nonsense)	Sensorineural hearing loss disorder +1 more	GLikely pathogenic
Select item 1684623	NM_001258392.3(CLPB):c.1167+5G>A	CLPB, LOC126861258	Single nucleotide variant (intron variant)	Neutropenia +1 more	GPathogenic
Select item 1677245	NM_003722.5(TP63):c.53A>G (p.Tyr18Cys)	TP63 (Y18C)	Single nucleotide variant (missense variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 1677244	NM_003722.5(TP63):c.1939C>T (p.Arg647Cys)	TP63 (R468C +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Premature ovarian failure 21 +1 more	GPathogenic
Select item 1677243	NM_003722.5(TP63):c.290G>C (p.Arg97Pro)	TP63 (R95P +1 more)	Single nucleotide variant (missense variant)	Premature ovarian failure 21 +1 more	GPathogenic
Select item 1349478	NM_015971.4(MRPS7):c.536G>A (p.Arg179His)	MRPS7 (R179H)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +3 more	GConflicting classifications of pathogenicity
Select item 1214015	NM_001171251.3(HROB):c.421del (p.Glu141fs)	HROB (E141fs)	Deletion (frameshift variant)	Premature ovarian insufficiency +1 more	GPathogenic/Likely pathogenic
Select item 1214014	NM_001048205.2(REC8):c.624+1G>A	REC8	Single nucleotide variant (splice donor variant)	Premature ovarian insufficiency	GLikely pathogenic
Select item 1214013	NM_001048205.2(REC8):c.1035_1036dup (p.Ala346fs)	REC8 (A346fs)	Duplication (frameshift variant)	Premature ovarian insufficiency	GLikely pathogenic
Select item 1174157	NM_020207.7:c.[2156delG];[3300_3303delTCAA]			Thrombocytopenia +1 more	GLikely pathogenic
Select item 1048097	NM_001282717.2(STAG3):c.1942G>A (p.Ala648Thr)	STAG3 (A590T +1 more)	Single nucleotide variant (missense variant +1 more)	Non-obstructive azoospermia +1 more	GUncertain significance
Select item 1048096	NM_001282717.2(STAG3):c.1953_1955del (p.Leu652del)	STAG3 (L594del +1 more)	Deletion (inframe_deletion +1 more)	Premature ovarian insufficiency +1 more	GLikely pathogenic
Select item 981245	NM_001983.4(ERCC1):c.321+61_525+132del	ERCC1	Deletion (splice acceptor variant +1 more)	Cutaneous photosensitivity +4 more	GPathogenic
Select item 978472	NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp)	ERCC1 (R156W)	Single nucleotide variant (missense variant)	Cutaneous photosensitivity +5 more	GConflicting classifications of pathogenicity
Select item 869200	NM_004837.4(GGPS1):c.782G>A (p.Arg261His)	GGPS1 (R207H +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +3 more	GConflicting classifications of pathogenicity
Select item 869199	NM_003201.3(TFAM):c.694C>T (p.Arg232Cys)	TFAM (R200C +1 more)	Single nucleotide variant (missense variant +1 more)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 869198	NM_052963.3(TOP1MT):c.1115G>C (p.Arg372Pro)	TOP1MT (R274P +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 869197	NM_000287.4(PEX6):c.371T>C (p.Leu124Pro)	PEX6 (L124P)	Single nucleotide variant (missense variant +1 more)	Cognitive impairment +5 more	GPathogenic
Select item 869115	NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu)	MSH4 (S754L)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +2 more	GPathogenic/Likely pathogenic
Select item 810665	t(3;10)(q22;q25.3)		Translocation	Endometriosis +1 more	GUncertain significance
Select item 625854	GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	ABCD1, ACTRT1 +221 more	Copy number loss	Premature ovarian insufficiency	GLikely pathogenic
Select item 619078	NM_013372.7(GREM1):c.466C>T (p.Leu156Phe)	GREM1 (L156F +2 more)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619077	NM_058241.3(CCNT2):c.430+1G>C	CCNT2	Single nucleotide variant (splice donor variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619076	NM_004514.4(FOXK2):c.154C>T (p.Arg52Cys)	FOXK2 (R52C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 619075	NM_004514.4(FOXK2):c.1436C>T (p.Ala479Val)	FOXK2 (A479V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 619074	NM_153485.3(NUP155):c.157+156_157+167del	NUP155	Deletion (intron variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 619073	NM_003922.4(HERC1):c.4931T>C (p.Ile1644Thr)	HERC1 (I1644T)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619072	NM_003922.4(HERC1):c.8236A>G (p.Thr2746Ala)	HERC1 (T2746A)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619071	NM_020547.3(AMHR2):c.1280T>G (p.Leu427Trp)	AMHR2 (L427W)	Single nucleotide variant (missense variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 619070	NM_001048205.2(REC8):c.872C>T (p.Pro291Leu)	REC8 (P291L)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619069	NM_001098426.2(SMARCD2):c.93del (p.Ala32fs)	LOC130061409, SMARCD2 (A32fs)	Deletion (frameshift variant)	Specific granule deficiency 2 +1 more	GConflicting classifications of pathogenicity
Select item 619068	NM_001012338.3(NTRK3):c.1495G>A (p.Asp499Asn)	NTRK3 (D499N +2 more)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619067	NM_001386188.2(CENPI):c.497G>A (p.Arg166His)	CENPI (R166H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 619066	NM_003722.5(TP63):c.1794G>A (p.Trp598Ter)	TP63 (W598* +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Premature ovarian failure 21 +1 more	GPathogenic
Select item 619065	NM_003722.5(TP63):c.1780C>T (p.Arg594Ter)	TP63 (R594* +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Premature ovarian failure 21 +1 more	GPathogenic
Select item 619064	NM_017696.3(MCM9):c.911A>G (p.Asn304Ser)	MCM9 (N304S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 619063	NM_001203.3(BMPR1B):c.605A>G (p.Lys202Arg)	BMPR1B (K202R +1 more)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619062	NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr)	NEK8 (S367T)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +1 more	GUncertain significance
Select item 619061	NM_018984.4(SSH1):c.151_175dup (p.Gln59fs)	SSH1 (Q59fs +1 more)	Duplication (frameshift variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619060	NM_005862.3(STAG1):c.634G>A (p.Asp212Asn)	STAG1 (D212N)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619059	NM_020401.4(NUP107):c.61C>T (p.Arg21Trp)	NUP107 (R21W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 619058	NM_203459.4(CAMSAP2):c.2510T>G (p.Ile837Arg)	CAMSAP2 (I837R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619057	NM_203459.4(CAMSAP2):c.1868T>C (p.Met623Thr)	CAMSAP2 (M623T +3 more)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619056	NM_001438.4(ESRRG):c.56+15867GT[3]	ESRRG (P20fs)	Microsatellite (frameshift variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 619055	NM_015512.5(DNAH1):c.4994T>C (p.Met1665Thr)	DNAH1 (M1665T)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619054	NM_144965.3(TTC16):c.356G>A (p.Arg119Gln)	TTC16 (R119Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619053	NM_001371395.1(USP53):c.2975T>G (p.Phe992Cys)	USP53 (F992C +4 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 619052	NM_020765.3(UBR4):c.2012G>A (p.Arg671Gln)	UBR4 (R671Q)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619051	NM_001371395.1(USP53):c.1253G>A (p.Arg418Gln)	USP53 (R418Q +2 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 619050	NM_001371395.1(USP53):c.173G>A (p.Arg58Gln)	USP53 (R58Q)	Single nucleotide variant (missense variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 619049	NM_005634.3(SOX3):c.1297G>T (p.Ala433Ser)	SOX3 (A433S)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619048	NM_001823.5(CKB):c.565G>C (p.Asp189His)	CKB (D189H +1 more)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619047	NC_000002.12:g.44277853_44353364del	PREPL, SLC3A1	Deletion	Premature ovarian insufficiency	GPathogenic
Select item 619046	NM_001171613.2(PREPL):c.614_688delinsTTTTA (p.Lys205fs)	PREPL (K294fs +1 more)	Indel (frameshift variant)	Premature ovarian insufficiency	GPathogenic
Select item 619045	NM_001001711.3(DDI1):c.692_714dup (p.Gly239Ter)	DDI1, PDGFD (G239*)	Duplication (nonsense +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 619044	NM_003503.4(CDC7):c.683_689del (p.Lys227_Ser228insTer)	CDC7	Deletion (nonsense)	Premature ovarian insufficiency	GUncertain significance
Select item 619043	NM_014675.5(CROCC):c.3668G>A (p.Arg1223Gln)	CROCC (R1223Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 619042	NM_014675.5(CROCC):c.2780G>A (p.Arg927Gln)	CROCC (R927Q)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619041	NM_001379180.1(ESRRB):c.66G>A (p.Met22Ile)	ESRRB (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 619040	NM_001438.4(ESRRG):c.1067A>G (p.Tyr356Cys)	ESRRG (Y333C +5 more)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 619039	NM_020207.7(ERCC6L2):c.2156del (p.Gly719fs)	ERCC6L2 (G719fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 553552	NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	PEX6 (R786W +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 4A (Zellweger) +4 more	GConflicting classifications of pathogenicity
Select item 495050	NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg)	EIF2B2 (K273R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 495049	NM_014239.4(EIF2B2):c.514C>T (p.Arg172Ter)	EIF2B2 (R172*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 495048	NM_002485.5(NBN):c.871C>T (p.Gln291Ter)	NBN (Q291* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 478433	NM_015512.5(DNAH1):c.2717A>G (p.Asp906Gly)	DNAH1 (D906G)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GBenign/Likely benign
Select item 374000	NM_001282717.2(STAG3):c.2776C>T (p.Arg926Ter)	STAG3 (R926* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GLikely pathogenic
Select item 241247	NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)	FANCL	Deletion (inframe_indel)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 231372	NM_005732.4(RAD50):c.3907A>G (p.Ser1303Gly)	RAD50, TH2LCRR (S1303G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 187786	NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)	LOC126861258, CLPB (R417* +3 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 142840	NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)	RAD51C (I144T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GConflicting classifications of pathogenicity
Select item 141414	NM_005591.4(MRE11):c.305G>T (p.Gly102Val)	MRE11 (G102V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +2 more	GConflicting classifications of pathogenicity
Select item 128001	NM_005732.4(RAD50):c.2177G>A (p.Arg726His)	RAD50 (R726H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 65408	NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)	NEK8 (R599*)	Single nucleotide variant (nonsense)	Nephronophthisis 9 +2 more	GPathogenic/Likely pathogenic
Select item 10794	NM_024921.4(POF1B):c.986G>A (p.Arg329Gln)	POF1B (R329Q)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency +2 more	GConflicting classifications of pathogenicity

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Items: 75