ClinVar for PubMed (Select 28492532) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3764080	NM_004168.4(SDHA):c.1720T>C (p.Cys574Arg)	SDHA (C526R +1 more)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma/paraganglioma syndrome 5 +1 more	GUncertain significance
Select item 3764079	NM_003476.5(CSRP3):c.27del (p.Lys9fs)	CSRP3 (K9fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 12 +1 more	GPathogenic
Select item 3764078	NM_001127222.2(CACNA1A):c.6051-5T>C	CACNA1A	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 3764077	NM_004738.5(VAPB):c.574-3T>C	VAPB	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 3764076	NM_001283009.2(RTEL1):c.1037+18A>G	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 3764075	NM_182961.4(SYNE1):c.21964A>G (p.Ile7322Val)	SYNE1 (I7251V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 3764074	NM_018979.4(WNK1):c.6579C>T (p.Asn2193=)	WNK1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 3764073	NM_004281.4(BAG3):c.1073C>G (p.Pro358Arg)	BAG3 (P358R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3764072	NM_152269.5(MTRFR):c.464_465dup (p.Lys156fs)	MTRFR (K156fs)	Duplication (frameshift variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 3764071	NM_000431.4(MVK):c.621C>A (p.Val207=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Hyperimmunoglobulin D with periodic fever +2 more	GUncertain significance
Select item 3764070	NM_139058.3(ARX):c.768C>T (p.Ala256=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 3764069	NM_005219.5(DIAPH1):c.3656G>A (p.Arg1219His)	DIAPH1 (R1210H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 3764068	NM_001972.4(ELANE):c.366+12C>T	ELANE	Single nucleotide variant (intron variant)	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GLikely benign
Select item 3764067	NM_012186.3(FOXE3):c.472G>A (p.Gly158Ser)	LINC01389, FOXE3 (G158S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 3764066	NM_001110556.2(FLNA):c.1502C>T (p.Ala501Val)	FLNA (A501V)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3764065	NM_001329943.3(KIAA0586):c.243A>G (p.Leu81=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 3764064	NM_021971.4(GMPPB):c.478G>T (p.Val160Leu)	GMPPB (V160L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 3764063	NM_001127222.2(CACNA1A):c.6627_6641dup (p.His2213_His2214insGlnHisHisHisHis)	CACNA1A	Duplication (inframe_insertion)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3764062	NM_001199138.2(NLRC4):c.2856T>C (p.Asp952=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3764061	NM_020822.3(KCNT1):c.1765A>G (p.Lys589Glu)	KCNT1 (K544E +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GUncertain significance
Select item 3764060	NM_001267550.2(TTN):c.28500A>G (p.Ser9500=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 3764059	NM_001267550.2(TTN):c.9306-7T>C	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 3764058	NM_015662.3(IFT172):c.3591C>T (p.Asp1197=)	IFT172, LOC126806173	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +1 more	GLikely benign
Select item 3764057	NM_005373.3(MPL):c.770G>A (p.Arg257His)	MPL (R257H)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 3764056	NM_182961.4(SYNE1):c.6147T>C (p.Asp2049=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 3764055	NM_201384.3(PLEC):c.5967C>A (p.Arg1989=)	PLEC	Single nucleotide variant (synonymous variant +1 more)	Epidermolysis bullosa simplex with nail dystrophy +5 more	GLikely benign
Select item 3764054	NM_000834.5(GRIN2B):c.1655-11C>G	GRIN2B	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 6 +1 more	GLikely benign
Select item 3764053	NM_004990.4(MARS1):c.12C>T (p.Phe4=)	ARHGAP9, MARS1	Single nucleotide variant (synonymous variant +1 more)	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency +1 more	GLikely benign
Select item 3764052	NM_001458.5(FLNC):c.4128-8T>C	FLNC	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely benign
Select item 3764051	NM_139058.3(ARX):c.70C>T (p.Leu24Phe)	ARX (L24F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 3764050	NM_004415.4(DSP):c.309G>A (p.Arg103=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 3764049	NM_001814.6(CTSC):c.889+18G>C	CTSC	Single nucleotide variant (intron variant)	Periodontitis, aggressive 1 +2 more	GLikely benign
Select item 3764048	NM_002180.3(IGHMBP2):c.913-12T>A	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GLikely benign
Select item 3764047	NM_016356.5(DCDC2):c.1080A>G (p.Ala360=)	DCDC2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 66 +1 more	GLikely benign
Select item 3764046	NM_004082.5(DCTN1):c.3114C>G (p.Asn1038Lys)	DCTN1 (N1001K +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 3764045	NM_004281.4(BAG3):c.180+12C>T	BAG3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3764044	NM_012186.3(FOXE3):c.194G>A (p.Arg65Gln)	FOXE3, LINC01389 (R65Q)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +1 more	GUncertain significance
Select item 3764043	NM_001267550.2(TTN):c.81633T>C (p.Asp27211=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 3764042	NM_024426.6(WT1):c.1355-20G>C	WT1	Single nucleotide variant (intron variant)	Wilms tumor 1 +3 more	GLikely benign
Select item 3764041	NM_001329943.3(KIAA0586):c.4429+24_4429+26del	KIAA0586	Microsatellite (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 3764040	NM_001267550.2(TTN):c.25884A>C (p.Ala8628=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 3764039	NM_203446.3(SYNJ1):c.*372A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 3764038	NM_005219.5(DIAPH1):c.3149-3_3149-2insC	DIAPH1	Insertion (intron variant)	Autosomal dominant nonsyndromic hearing loss 1 +1 more	GUncertain significance
Select item 3764037	NM_182961.4(SYNE1):c.13172G>C (p.Cys4391Ser)	SYNE1 (C4320S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 3764036	NM_001267550.2(TTN):c.82368G>A (p.Leu27456=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 3764035	NM_182961.4(SYNE1):c.9678C>T (p.Tyr3226=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3764034	NM_001283009.2(RTEL1):c.3822+16C>T	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GLikely benign
Select item 3764033	NM_001349253.2(SCN11A):c.387A>G (p.Ser129=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 3764032	NM_213720.3(CHCHD10):c.421C>T (p.Leu141=)	CHCHD10	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant mitochondrial myopathy with exercise intolerance +2 more	GLikely benign
Select item 3764031	NM_020822.3(KCNT1):c.3438C>T (p.Arg1146=)	KCNT1	Single nucleotide variant (synonymous variant)	Autosomal dominant nocturnal frontal lobe epilepsy 5 +1 more	GLikely benign
Select item 3764030	NM_000329.3(RPE65):c.814G>A (p.Gly272Arg)	RPE65 (G180R +2 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 3764029	NM_001365902.3(NFIX):c.279G>T (p.Leu93=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 3764028	NM_002230.4(JUP):c.824C>A (p.Pro275His)	JUP (P275H)	Single nucleotide variant (missense variant)	Naxos disease +1 more	GUncertain significance
Select item 3764027	NM_025136.4(OPA3):c.323A>G (p.Gln108Arg)	OPA3 (Q108R)	Single nucleotide variant (missense variant +1 more)	Optic atrophy 3 +1 more	GUncertain significance
Select item 3764026	NM_021098.3(CACNA1H):c.6669_6670del (p.Cys2223_Glu2224delinsTer)	CACNA1H	Microsatellite (nonsense)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3764025	NM_152419.3(HGSNAT):c.1230G>A (p.Leu410=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +1 more	GLikely benign
Select item 3764024	NM_032415.7(CARD11):c.2849C>A (p.Pro950His)	CARD11 (P950H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CARD11 deficiency +1 more	GLikely benign
Select item 3764023	NM_001267550.2(TTN):c.43620G>A (p.Arg14540=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 3764022	NM_001267550.2(TTN):c.106988C>G (p.Thr35663Ser)	TTN-AS1, TTN (T26598S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3764021	NM_000089.4(COL1A2):c.2518C>T (p.Pro840Ser)	COL1A2 (P840S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3764020	NM_001127222.2(CACNA1A):c.2802C>G (p.His934Gln)	CACNA1A (H934Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +2 more	GUncertain significance
Select item 3764019	NM_001366385.1(CARD14):c.704G>A (p.Arg235Gln)	CARD14 (R235Q)	Single nucleotide variant (missense variant +2 more)	Pityriasis rubra pilaris +3 more	GUncertain significance
Select item 3764018	NM_022489.4(INF2):c.3705del (p.Asp1236fs)	INF2 (D1236fs)	Deletion (frameshift variant +2 more)	Charcot-Marie-Tooth disease dominant intermediate E +1 more	GUncertain significance
Select item 3764017	NM_002087.4(GRN):c.540A>T (p.Thr180=)	GRN	Single nucleotide variant (synonymous variant)	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GLikely benign
Select item 3764016	NM_001366385.1(CARD14):c.2808G>T (p.Lys936Asn)	CARD14, SGSH (K936N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3764015	NM_213599.3(ANO5):c.2030-20C>G	ANO5	Single nucleotide variant (intron variant)	Gnathodiaphyseal dysplasia +1 more	GLikely benign
Select item 3764014	NM_001267550.2(TTN):c.33418+20T>A	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 3764013	NM_000069.3(CACNA1S):c.4242-14G>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 3764012	NM_001458.5(FLNC):c.6208+11C>A	FLNC, FLNC-AS1	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely benign
Select item 3764011	NM_001349253.2(SCN11A):c.4818C>T (p.Asn1606=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 3764010	NM_001128227.3(GNE):c.7A>G (p.Thr3Ala)	GNE (T3A)	Single nucleotide variant (missense variant +1 more)	Sialuria +1 more	GUncertain significance
Select item 3764009	NM_000089.4(COL1A2):c.448C>T (p.Pro150Ser)	COL1A2 (P150S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3764008	NM_001458.5(FLNC):c.2265+11_2265+12delinsTG	FLNC	Indel (intron variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 3764007	NM_000158.4(GBE1):c.402A>G (p.Val134=)	GBE1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IV, classic hepatic +1 more	GLikely benign
Select item 3764006	NM_001329943.3(KIAA0586):c.2442+17G>T	KIAA0586	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 14 with polydactyly +1 more	GLikely benign
Select item 3764005	NM_014476.6(PDLIM3):c.378C>T (p.Phe126=)	LOC126807246, PDLIM3	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 3764004	NM_016169.4(SUFU):c.21C>T (p.Ser7=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +1 more	GLikely benign
Select item 3764003	NM_002334.4(LRP4):c.1644G>A (p.Leu548=)	LRP4	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 3764002	NM_001267550.2(TTN):c.64352del (p.Leu21451fs)	TTN, TTN-AS1 (L12386fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3764001	NM_001368809.2(AMPD2):c.135A>G (p.Arg45=)	AMPD2	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 3764000	NM_001382567.1(STIM1):c.877G>A (p.Ala293Thr)	STIM1 (A130T +5 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 3763999	NM_005045.4(RELN):c.2272A>G (p.Ile758Val)	RELN (I758V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 3763998	NM_001127222.2(CACNA1A):c.765C>T (p.Thr255=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 3763997	NM_001267550.2(TTN):c.86392A>C (p.Arg28798=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 3763996	NM_001267550.2(TTN):c.3964-18G>C	LOC101927055, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 3763995	NM_000089.4(COL1A2):c.476T>C (p.Val159Ala)	COL1A2 (V159A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 3763994	NM_003000.3(SDHB):c.141G>C (p.Trp47Cys)	SDHB (W47C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 3763993	NM_003001.5(SDHC):c.408G>A (p.Met136Ile)	SDHC (M100I +10 more)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma/paraganglioma syndrome 3 +1 more	GUncertain significance
Select item 3763992	NM_000536.4(RAG2):c.861C>T (p.Cys287=)	RAG2	Single nucleotide variant (synonymous variant)	Combined immunodeficiency with skin granulomas +1 more	GLikely benign
Select item 3763991	NM_021098.3(CACNA1H):c.1065C>A (p.His355Gln)	CACNA1H (H355Q)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3763990	NM_032737.4(LMNB2):c.815G>T (p.Arg272Leu)	LMNB2 (R272L)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 3763989	NM_001267550.2(TTN):c.67569G>C (p.Val22523=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 3763988	NC_000012.12:g.121641130G>A	ORAI1	Single nucleotide variant (non-coding transcript variant)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 3763987	NM_002292.4(LAMB2):c.3891A>G (p.Leu1297=)	LAMB2	Single nucleotide variant (synonymous variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GLikely benign
Select item 3763986	NM_001349253.2(SCN11A):c.2850T>C (p.His950=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 3763985	NM_015631.6(TCTN3):c.1298+8T>G	TCTN3	Single nucleotide variant (intron variant)	Orofacial-digital syndrome IV +1 more	GLikely benign
Select item 3763984	NM_000052.7(ATP7A):c.2042T>C (p.Leu681Pro)	ATP7A (L681P)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +2 more	GUncertain significance
Select item 3763983	NM_001267550.2(TTN):c.101489T>C (p.Phe33830Ser)	TTN, TTN-AS1 (F24765S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3763982	NM_001267550.2(TTN):c.3523+5G>C	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3763981	NM_001103.4(ACTN2):c.1277A>G (p.Gln426Arg)	ACTN2 (Q426R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance

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