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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status	Accession
Select item 13259081.	NM_182977.3(NNT):c.152-26_152-25insA	NNT		Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325908
Select item 13259072.	NM_182977.3(NNT):c.-26T>C	NNT		Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325907
Select item 13259063.	NM_024528.4(NKAP):c.538+8T>A	NKAP		Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325906
Select item 13259054.	NM_024528.4(NKAP):c.539-17A>T	NKAP		Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325905
Select item 13259045.	NM_024528.4(NKAP):c.600ATC[1] (p.Ser202del)	NKAP	S202del	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325904
Select item 13259036.	NM_024528.4(NKAP):c.923+6C>T	NKAP		Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325903
Select item 13259027.	NM_001005388.3(NFASC):c.1554C>A (p.Val518=)	NFASC		Neurodevelopmental disorder with central and peripheral motor dysfunction	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325902
Select item 13259018.	NM_001005388.3(NFASC):c.1280-22A>T	NFASC		Neurodevelopmental disorder with central and peripheral motor dysfunction	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325901
Select item 13259009.	NM_001005388.3(NFASC):c.215+14A>G	NFASC		Neurodevelopmental disorder with central and peripheral motor dysfunction	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325900
Select item 132589910.	NM_033116.6(NEK9):c.*13G>A	NEK9		Lethal congenital contracture syndrome 10, Arthrogryposis, perthes disease, and upward gaze palsy	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325899
Select item 132589811.	NM_001394966.1(NEK10):c.-37-9A>C	NEK10		Ciliary dyskinesia, primary, 44	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325898
Select item 132589712.	NM_001394966.1(NEK10):c.1538T>C (p.Leu513Ser)	NEK10	L484S, L513S, L520S	Ciliary dyskinesia, primary, 44	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325897
Select item 132589613.	NM_001394966.1(NEK10):c.1674A>G (p.Gly558=)	NEK10		Ciliary dyskinesia, primary, 44	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325896
Select item 132589514.	NM_001394966.1(NEK10):c.1791T>C (p.Asn597=)	NEK10		Ciliary dyskinesia, primary, 44	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325895
Select item 132589415.	NM_001394966.1(NEK10):c.2010C>A (p.Thr670=)	NEK10		Ciliary dyskinesia, primary, 44	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325894
Select item 132589316.	NM_001394966.1(NEK10):c.2061C>G (p.Thr687=)	NEK10		Ciliary dyskinesia, primary, 44	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325893
Select item 132589217.	NM_001394966.1(NEK10):c.2247C>G (p.Val749=)	NEK10		Ciliary dyskinesia, primary, 44	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325892
Select item 132589118.	NM_001394966.1(NEK10):c.2505+22G>T	NEK10		Ciliary dyskinesia, primary, 44	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325891
Select item 132589019.	NM_001394966.1(NEK10):c.2869+140C>T	NEK10		Ciliary dyskinesia, primary, 44	Benign (Sep 5, 2021)	criteria provided, single submitter	VCV001325890
Select item 132588320.	NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter)	PRDX3	R15*	Autosomal recessive cerebellar ataxia	Likely pathogenic (Nov 24, 2021)	criteria provided, single submitter	VCV001325883
Select item 132588221.	NM_001032221.6(STXBP1):c.1392del (p.Lys465fs)	STXBP1	K429fs, K451fs, K462fs, K465fs	Early infantile epileptic encephalopathy with suppression bursts	Pathogenic (Nov 24, 2021)	criteria provided, single submitter	VCV001325882
Select item 132587022.	NM_001134407.3(GRIN2A):c.2113A>G (p.Met705Val)	GRIN2A	M705V	Epilepsy, focal, with speech disorder and with or without mental retardation	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter	VCV001325870
Select item 132586923.	NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr)	GRIN2A	I694T	Epilepsy, focal, with speech disorder and with or without mental retardation	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter	VCV001325869
Select item 132586824.	NM_001134407.3(GRIN2A):c.2063G>C (p.Gly688Ala)	GRIN2A	G688A	Epilepsy, focal, with speech disorder and with or without mental retardation	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter	VCV001325868
Select item 132586725.	NM_001134407.3(GRIN2A):c.1959G>A (p.Met653Ile)	GRIN2A	M653I	Epilepsy, focal, with speech disorder and with or without mental retardation	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter	VCV001325867
Select item 132586626.	NM_001134407.3(GRIN2A):c.1957A>G (p.Met653Val)	GRIN2A	M653V	Epilepsy, focal, with speech disorder and with or without mental retardation	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter	VCV001325866
Select item 132586527.	NM_032217.5(ANKRD17):c.5360_5363del (p.Gln1787fs)	ANKRD17	Q1536fs, Q1674fs, Q1786fs, Q1787fs	CHOPRA-AMIEL-GORDON SYNDROME	Pathogenic (Oct 7, 2021)	criteria provided, single submitter	VCV001325865
Select item 132586428.	NM_001134407.3(GRIN2A):c.1930A>G (p.Ser644Gly) GRCh37: Chr16:9923357 GRCh38: Chr16:9829500	GRIN2A	S644G	Epilepsy, focal, with speech disorder and with or without mental retardation	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter	VCV001325864
Select item 132586329.	NM_001134407.3(GRIN2A):c.1832T>A (p.Leu611Gln)	GRIN2A	L611Q	Epilepsy, focal, with speech disorder and with or without mental retardation	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter	VCV001325863
Select item 132586230.	NM_001134407.3(GRIN2A):c.1642G>A (p.Ala548Thr)	GRIN2A	A548T	Epilepsy, focal, with speech disorder and with or without mental retardation	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter	VCV001325862
Select item 132586131.	NM_006421.5(ARFGEF1):c.1028-2A>T	ARFGEF1		Intellectual disability, Focal-onset seizure	Likely pathogenic (Oct 7, 2021)	criteria provided, single submitter	VCV001325861
Select item 132586032.	NM_001134407.3(GRIN2A):c.1232T>A (p.Leu411Gln)	GRIN2A	L411Q	Epilepsy, focal, with speech disorder and with or without mental retardation	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter	VCV001325860
Select item 132585933.	NM_001134407.3(GRIN2A):c.691T>C (p.Cys231Arg)	GRIN2A	C231R	Epilepsy, focal, with speech disorder and with or without mental retardation	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter	VCV001325859
Select item 132585834.	NM_001134407.3(GRIN2A):c.551T>G (p.Ile184Ser)	GRIN2A	I184S	Epilepsy, focal, with speech disorder and with or without mental retardation	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter	VCV001325858
Select item 132585735.	NM_004958.4(MTOR):c.7529G>T (p.Gly2510Val)	MTOR	G2094V, G2510V	Smith-Kingsmore syndrome	Likely pathogenic (Oct 20, 2021)	criteria provided, single submitter	VCV001325857
Select item 132585636.	NM_001356.5(DDX3X):c.207T>G (p.Tyr69Ter)	DDX3X	Y53, Y69	Mental retardation, X-linked 102	Likely pathogenic (Oct 19, 2021)	criteria provided, single submitter	VCV001325856
Select item 132585537.	NM_001184880.2(PCDH19):c.274dup (p.Leu92fs)	PCDH19	L92fs	Early infantile epileptic encephalopathy 9	Likely pathogenic (Oct 6, 2021)	criteria provided, single submitter	VCV001325855
Select item 132585438.	NM_001083962.2(TCF4):c.1454_1455del (p.Pro485fs)	TCF4	P269fs, P324fs, P325fs, P355fs, P414fs, P443fs, P460fs, P461fs, P462fs, P482fs, P484fs, P485fs, P491fs, P587fs	Pitt-Hopkins syndrome	Likely pathogenic (Oct 19, 2021)	criteria provided, single submitter	VCV001325854
Select item 132585339.	NM_003718.5(CDK13):c.2603G>A (p.Arg868Gln)	CDK13	R868Q	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter	VCV001325853
Select item 132585240.	NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys)	SMARCA4	E488K	Mental retardation, autosomal dominant 16	Uncertain significance (Oct 18, 2021)	criteria provided, single submitter	VCV001325852
Select item 132585141.	NM_001165963.4(SCN1A):c.1465_1480del (p.Ser490fs)	SCN1A	S489fs, S490fs	Generalized epilepsy with febrile seizures plus, type 2	Likely pathogenic (Oct 18, 2021)	criteria provided, single submitter	VCV001325851
Select item 132585042.	NM_001042492.3(NF1):c.1809_1810del (p.Leu604fs)	NF1	L604fs	Neurofibromatosis, type 1	Pathogenic (Oct 18, 2021)	criteria provided, single submitter	VCV001325850
Select item 132584943.	NM_001277.3(CHKA):c.2T>C (p.Met1Thr)	CHKA	M1T	Intellectual disability, severe, Microcephaly, Seizures	Uncertain significance (Oct 15, 2021)	criteria provided, single submitter	VCV001325849
Select item 132584844.	NM_001277.3(CHKA):c.1021T>C (p.Phe341Leu)	CHKA	F201L, F219L, F303L, F323L, F341L, F351L	Intellectual disability, severe, Microcephaly, Seizures	Likely pathogenic (Oct 15, 2021)	criteria provided, single submitter	VCV001325848
Select item 132584745.	NM_001277.3(CHKA):c.14dup (p.Cys6fs)	CHKA	C6fs	Intellectual disability, severe, Microcephaly, Seizures	Likely pathogenic (Oct 15, 2021)	criteria provided, single submitter	VCV001325847
Select item 132584646.	NM_001277.3(CHKA):c.580C>T (p.Pro194Ser)	CHKA	P176S, P194S, P204S, P54S, P72S	Intellectual disability, severe, Microcephaly, Seizures	Likely pathogenic (Oct 15, 2021)	criteria provided, single submitter	VCV001325846
Select item 132584547.	NM_001277.3(CHKA):c.421C>T (p.Arg141Trp)	CHKA	R141W, R19W	Intellectual disability, severe, Microcephaly, Seizures	Likely pathogenic (Oct 15, 2021)	criteria provided, single submitter	VCV001325845
Select item 132584448.	NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser)	CHD2	N1504S	Developmental and epileptic encephalopathy 94	Likely benign (Oct 14, 2021)	criteria provided, single submitter	VCV001325844
Select item 132584349.	NM_002653.5(PITX1):c.87del (p.Ala30fs)	PITX1	A30fs	Talipes equinovarus	Likely pathogenic (Oct 13, 2021)	criteria provided, single submitter	VCV001325843
Select item 132584250.	NM_001005273.3(CHD3):c.3239T>A (p.Leu1080His)	CHD3	L1080H, L1139H	Snijders Blok-Campeau syndrome	Likely pathogenic (Oct 12, 2021)	criteria provided, single submitter	VCV001325842
Select item 132584151.	NM_005051.3(QARS1):c.1389-3C>A	QARS1		Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter	VCV001325841
Select item 132584052.	NM_001374258.1(BRAF):c.1574T>G (p.Leu525Trp)	BRAF	L397W, L433W, L448W, L451W, L463W, L485W, L488W, L525W	Cardiofaciocutaneous syndrome 1	Pathogenic (Oct 11, 2021)	criteria provided, single submitter	VCV001325840
Select item 132583953.	NM_005249.5(FOXG1):c.515dup (p.Glu173fs)	FOXG1	E173fs	Rett syndrome, congenital variant	Likely pathogenic (Oct 11, 2021)	criteria provided, single submitter	VCV001325839
Select item 132583854.	NM_000719.7(CACNA1C):c.496T>C (p.Phe166Leu)	CACNA1C	F166L	Neurodevelopmental delay	Likely pathogenic (Jan 31, 2020)	criteria provided, single submitter	VCV001325838
Select item 132583755.	NC_012920.1(MT-ND1):m.1616A>G	MT-TV		Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter	VCV001325837
Select item 132583656.	NM_001134673.4(NFIA):c.1086dup (p.Ala363fs)	NFIA	A355fs, A363fs, A408fs	Brain malformations and urinary tract defects	Likely pathogenic (Nov 18, 2021)	criteria provided, single submitter	VCV001325836
Select item 132583557.	NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val)	GABRG2	A305V, A313V, A350V, A423V, A424V, A431V, A444V, A445V, A450V, A452V, A453V, A466V, A485V, A493V	Familial febrile seizures 8	Uncertain significance (Nov 18, 2021)	criteria provided, single submitter	VCV001325835
Select item 132583458.	NM_005276.4(GPD1):c.398C>T (p.Ser133Leu)	GPD1	S110L, S133L	Hypertriglyceridemia, transient infantile	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter	VCV001325834
Select item 132583359.	NM_025137.4:c.(5866+1_5867-1)_(6477+1_6478-1)del	SPG11		Spastic paraplegia 11, autosomal recessive	Pathogenic (Nov 16, 2021)	criteria provided, single submitter	VCV001325833
Select item 132583260.	NM_020988.3(GNAO1):c.151A>G (p.Lys51Glu)	GNAO1	K51E	Early infantile epileptic encephalopathy 17	Uncertain significance (Nov 15, 2021)	criteria provided, single submitter	VCV001325832
Select item 132583161.	NM_001271.4(CHD2):c.1681_1692del (p.Val561_Tyr564del)	CHD2		Developmental and epileptic encephalopathy 94	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter	VCV001325831
Select item 132583062.	NM_000142.5(FGFR3):c.1618A>C (p.Asn540His)	FGFR3	N428H, N540H, N541H, N542H	Short stature	Likely pathogenic (Nov 12, 2021)	criteria provided, single submitter	VCV001325830
Select item 132582963.	NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)	TMEM67	R711G, R792G	Joubert syndrome 6	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter	VCV001325829
Select item 132582864.	NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter)	DLG4	R557, R590, R614, R617, R657, R660	Intellectual developmental disorder 62	Pathogenic (Nov 10, 2021)	criteria provided, single submitter	VCV001325828
Select item 132582765.	NM_021625.5(TRPV4):c.2554dup (p.Arg852fs)	TRPV4	R745fs, R792fs, R805fs, R818fs, R852fs	Mild short stature	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter	VCV001325827
Select item 132582666.	NM_001375524.1(TRRAP):c.11563G>A (p.Ala3855Thr)	TRRAP	A3812T, A3841T, A3855T	Developmental delay with or without dysmorphic facies and autism	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter	VCV001325826
Select item 132582567.	NM_015570.4:c.(690+1_691-1)_(742+1_743-1)del	AUTS2		Mental retardation, autosomal dominant 26	Pathogenic (Nov 9, 2021)	criteria provided, single submitter	VCV001325825
Select item 132582468.	NM_002655.3(PLAG1):c.758dup (p.Phe254fs)	PLAG1	F172fs, F254fs	Silver-russell syndrome 4	Uncertain significance (Nov 8, 2021)	criteria provided, single submitter	VCV001325824
Select item 132582369.	NM_001356.5(DDX3X):c.1693C>T (p.Gln565Ter)	DDX3X	Q379, Q549, Q565*	Mental retardation, X-linked 102	Pathogenic (Nov 8, 2021)	criteria provided, single submitter	VCV001325823
Select item 132582270.	NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter)	NPRL3	Q129, Q230, Q283, Q308	Epilepsy, familial focal, with variable foci 3	Pathogenic (Oct 8, 2021)	criteria provided, single submitter	VCV001325822
Select item 132582171.	NM_020361.5(CPA6):c.107G>A (p.Arg36His)	CPA6	R36H	Febrile seizures, familial, 11	Likely pathogenic (Nov 5, 2021)	criteria provided, single submitter	VCV001325821
Select item 132582072.	NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)	PDHA1	H259Y, H290Y, H297Y, H328Y	Pyruvate dehydrogenase E1-alpha deficiency	Likely pathogenic (Nov 4, 2021)	criteria provided, single submitter	VCV001325820
Select item 132581973.	NM_002775.5(HTRA1):c.496C>T (p.Arg166Cys)	HTRA1	R166C	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	Likely pathogenic (Nov 3, 2021)	criteria provided, single submitter	VCV001325819
Select item 132581874.	NM_001080517.3(SETD5):c.1689del (p.Glu564fs)	SETD5	E466fs, E564fs	Mental retardation, autosomal dominant 23	Pathogenic (Nov 3, 2021)	criteria provided, single submitter	VCV001325818
Select item 132581775.	NM_001379403.1(WDR26):c.390_412del (p.Leu132fs)	WDR26	L132fs, L32fs	Skraban-Deardorff syndrome	Pathogenic (Nov 3, 2021)	criteria provided, single submitter	VCV001325817
Select item 132581676.	NM_002576.5(PAK1):c.328T>A (p.Ser110Thr)	PAK1	S110T, S117T, S12T	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Likely pathogenic (Nov 1, 2019)	criteria provided, single submitter	VCV001325816
Select item 132581577.	NM_031844.3(HNRNPU):c.1230+1G>C	HNRNPU		Epileptic encephalopathy, early infantile, 54	Pathogenic (Nov 3, 2021)	criteria provided, single submitter	VCV001325815
Select item 132581478.	NM_001130438.3(SPTAN1):c.4344G>A (p.Gln1448=)	SPTAN1		Early infantile epileptic encephalopathy 5	Likely benign (Nov 3, 2021)	criteria provided, single submitter	VCV001325814
Select item 132581379.	NM_006306.4(SMC1A):c.1072_1073del (p.Gln359fs)	SMC1A	Q337fs, Q359fs	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	Likely pathogenic (Nov 1, 2021)	criteria provided, single submitter	VCV001325813
Select item 132581280.	NM_001130021.3(ATP6V0A1):c.53A>T (p.Gln18Leu)	ATP6V0A1	Q18L	Global developmental delay, Seizures	Uncertain significance (Oct 30, 2019)	criteria provided, single submitter	VCV001325812
Select item 132581181.	NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr)	NFIX	D101Y, D108Y, D109Y, D117Y, D125Y, D62Y	Sotos syndrome 2	Likely pathogenic (Nov 1, 2021)	criteria provided, single submitter	VCV001325811
Select item 132581082.	NM_006734.4(HIVEP2):c.7072C>T (p.His2358Tyr)	HIVEP2	H2358Y	Mental retardation, autosomal dominant 43	Uncertain significance (Nov 1, 2021)	criteria provided, single submitter	VCV001325810
Select item 132580983.	NM_002576.5(PAK1):c.361C>T (p.Pro121Ser)	PAK1	P121S, P128S, P23S	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Likely pathogenic (Nov 1, 2019)	criteria provided, single submitter	VCV001325809
Select item 132580884.	NM_002971.6(SATB1):c.1139G>A (p.Arg380His)	SATB1	R308H, R380H	Kohlschutter-Tonz syndrome-like	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter	VCV001325808
Select item 132580785.	NM_001429.4(EP300):c.1143C>G (p.His381Gln)	EP300	H381Q	Rubinstein-Taybi syndrome 2	Uncertain significance (Nov 1, 2021)	criteria provided, single submitter	VCV001325807
Select item 132580686.	NM_000303.3(PMM2):c.47C>T (p.Thr16Ile)	PMM2	T16I	Congenital disorder of glycosylation, type Ia	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter	VCV001325806
Select item 132580587.	NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter)	BCKDHA	C258*	Maple syrup urine disease	Pathogenic (Oct 28, 2021)	criteria provided, single submitter	VCV001325805
Select item 132580488.	NM_006545.5(NPRL2):c.586-3C>A	NPRL2		Epilepsy, familial focal, with variable foci 2	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter	VCV001325804
Select item 132580389.	NM_001943.5(DSG2):c.523+1G>T	DSG2		Arrhythmogenic right ventricular cardiomyopathy, type 10	Likely pathogenic (Oct 27, 2021)	criteria provided, single submitter	VCV001325803
Select item 132580290.	NM_001162501.2(TNRC6B):c.2039G>A (p.Trp680Ter)	TNRC6B	W680*	Global developmental delay with speech and behavioral abnormalities	Pathogenic (Oct 27, 2021)	criteria provided, single submitter	VCV001325802
Select item 132580191.	NM_002576.5(PAK1):c.397T>C (p.Ser133Pro)	PAK1	S133P, S140P, S35P	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Likely pathogenic (Nov 1, 2019)	criteria provided, single submitter	VCV001325801
Select item 132580092.	NM_014874.4(MFN2):c.695C>G (p.Thr232Ser)	MFN2	T232S	Charcot-Marie-Tooth disease, type 2A2A	Likely pathogenic (Oct 26, 2021)	criteria provided, single submitter	VCV001325800
Select item 132579993.	NM_017934.7(PHIP):c.214C>T (p.Pro72Ser)	PHIP	P72S	Developmental delay, intellectual disability, obesity, and dysmorphic features	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter	VCV001325799
Select item 132579894.	NM_006767.4(LZTR1):c.527C>T (p.Ser176Leu)	LZTR1	S176L	Noonan syndrome 10	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter	VCV001325798
Select item 132579795.	NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val)	SPTAN1	A306V, A318V	Early infantile epileptic encephalopathy 5	Likely pathogenic (Sep 1, 2017)	criteria provided, single submitter	VCV001325797
Select item 132579696.	NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp)	SPTAN1	G178D, G190D	Early infantile epileptic encephalopathy 5	Likely pathogenic (Sep 1, 2017)	criteria provided, single submitter	VCV001325796
Select item 132579597.	NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del)	SPTAN1		Early infantile epileptic encephalopathy 5	Likely pathogenic (Sep 1, 2017)	criteria provided, single submitter	VCV001325795
Select item 132579498.	NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del)	SPTAN1	D2259del, D2264del, D2278del, D2279del, D2284del, D2296del, D2305del, D2313del, D2317del	Early infantile epileptic encephalopathy 5	Likely pathogenic (Sep 1, 2017)	criteria provided, single submitter	VCV001325794
Select item 132579399.	NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del)	SPTAN1	N2183del, N2188del, N2203del, N2208del, N2220del, N2237del	Early infantile epileptic encephalopathy 5	Likely pathogenic (Sep 1, 2017)	criteria provided, single submitter	VCV001325793
Select item 1325792100.	NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp)	SPTAN1	R1751W, R1756W, R1771W, R1776W, R1788W	Early infantile epileptic encephalopathy 5	Likely pathogenic (Sep 1, 2017)	criteria provided, single submitter	VCV001325792

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