ClinVar for MedGen (Select 866738) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339654	NM_006009.4(TUBA1A):c.322T>C (p.Tyr108His)	TUBA1A (Y108H +1 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 1172672	NM_178014.4(TUBB):c.961A>G (p.Met321Val)	TUBB (M249V +3 more)	Single nucleotide variant (missense variant +2 more)	Abnormal brain morphology +1 more	GPathogenic
Select item 1047886	GRCh37/hg19 3p26.3-26.1(chr3:73914-5940479)	ARL8B, BHLHE40 +12 more	Copy number loss	Abnormal brain morphology	GPathogenic
Select item 638167	NM_001101.5(ACTB):c.179G>A (p.Ser60Asn)	ACTB (S60N)	Single nucleotide variant (missense variant)	Microcephaly +2 more	GLikely pathogenic
Select item 585005	NM_005052.3(RAC3):c.182A>T (p.Gln61Leu)	RAC3 (Q61L)	Single nucleotide variant (missense variant)	Abnormal brain morphology +2 more	GPathogenic; association
Select item 585004	NM_005052.3(RAC3):c.86C>T (p.Pro29Leu)	RAC3 (P29L)	Single nucleotide variant (missense variant)	Abnormal brain morphology +2 more	GPathogenic; association
Select item 523370	NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly)	NOTCH3 (C484G)	Single nucleotide variant (missense variant)	Migraine +3 more	GLikely pathogenic
Select item 523306	NC_012920.1(MT-ND6):m.14477A>G	MT-ND6	Single nucleotide variant	Abnormal brain morphology +6 more	GUncertain significance
Select item 426927	NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)	ASXL1 (G585fs +1 more)	Duplication (frameshift variant)	Bohring-Opitz syndrome +2 more	GPathogenic/Likely pathogenic
Select item 402222	NM_001379286.1(ZNF423):c.290G>A (p.Arg97His)	ZNF423 (R29H +2 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology +1 more	GConflicting classifications of pathogenicity
Select item 402221	NM_001379286.1(ZNF423):c.3394G>A (p.Glu1132Lys)	ZNF423 (E1064K +3 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology +1 more	GConflicting classifications of pathogenicity
Select item 402220	NM_152564.5(VPS13B):c.3G>A (p.Met1Ile)	VPS13B (M1I)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 402219	NM_152564.5(VPS13B):c.412+1G>T	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 402218	NM_173495.3(PTCHD1):c.542A>C (p.Lys181Thr)	PTCHD1 (K181T)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4 +1 more	GLikely pathogenic
Select item 402217	NM_130837.3(OPA1):c.1033C>T (p.Arg345Trp)	OPA1 (R272W +9 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402216	NM_018297.4(NGLY1):c.314T>G (p.Ile105Ser)	NGLY1 (I63S +1 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402215	NM_012123.4(MTO1):c.1933C>A (p.Arg645Ser)	MTO1 (R670S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 402214	NM_012123.4(MTO1):c.1787T>A (p.Leu596Gln)	MTO1 (L621Q +2 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402212	NM_002206.3(ITGA7):c.132_133insA (p.Glu45fs)	ITGA7 (E45fs)	Insertion (frameshift variant +2 more)	Abnormal brain morphology	GLikely pathogenic
Select item 402211	NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys)	IQSEC2 (R1122C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1 +4 more	GConflicting classifications of pathogenicity
Select item 402210	NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)	GRIP1 (V54I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 402209	NM_001366722.1(GRIP1):c.1298G>T (p.Ser433Ile)	GRIP1 (S381I +3 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402208	NM_012156.2(EPB41L1):c.1912C>T (p.Arg638Cys)	EPB41L1 (R564C +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 402207	NM_001349.4(DARS1):c.389G>C (p.Cys130Ser)	DARS1 (C130S +1 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402206	NM_001378964.1(CDON):c.3395C>T (p.Pro1132Leu)	CDON (P1132L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 402205	NM_021098.3(CACNA1H):c.6898A>G (p.Ile2300Val)	CACNA1H (I2300V +1 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402204	NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His)	CACNA1H (P684H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 402203	NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr)	BCOR (S1397Y +2 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology +2 more	GConflicting classifications of pathogenicity
Select item 402202	NM_030632.3(ASXL3):c.3136G>A (p.Gly1046Arg)	ASXL3 (G1046R)	Single nucleotide variant (missense variant)	Abnormal brain morphology +1 more	GConflicting classifications of pathogenicity
Select item 402201	NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu)	AP4B1, AP4B1-AS1 (F319L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 402200	NM_014795.4(ZEB2):c.271_277del (p.Gly91fs)	ZEB2 (G91fs)	Deletion (frameshift variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402199	NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln)	SYNE1 (R3576Q +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 402198	NM_001048166.1(STIL):c.1226G>C (p.Ser409Thr)	STIL (S409T +1 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402197	NM_025137.4(SPG11):c.5175del (p.Ala1726fs)	SPG11 (A1726fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11 +1 more	GPathogenic/Likely pathogenic
Select item 402196	NM_153816.6(SNX14):c.1672dup (p.Thr558fs)	SNX14 (T208fs +16 more)	Duplication (frameshift variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 402195	NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)	RARS2 (S443P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 402194	NM_013382.7(POMT2):c.431T>G (p.Met144Arg)	POMT2 (M144R)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402193	NM_015192.4(PLCB1):c.2179T>A (p.Trp727Arg)	PLCB1 (W727R)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402192	NM_003560.4(PLA2G6):c.1640A>G (p.Glu547Gly)	PLA2G6 (E493G +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +3 more	GLikely pathogenic
Select item 402191	NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His)	PLA2G6 (R656H +4 more)	Single nucleotide variant (missense variant)	Infantile neuroaxonal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 402190	NM_176787.5(PIGN):c.996T>G (p.Ile332Met)	PIGN (I332M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 402189	NM_016648.4(LARP7):c.832A>T (p.Lys278Ter)	LARP7, MIR302CHG (K278* +2 more)	Single nucleotide variant (nonsense)	Abnormal brain morphology +1 more	GLikely pathogenic
Select item 402188	NM_015158.5(KANK1):c.3237C>G (p.Ile1079Met)	KANK1 (I1079M +3 more)	Single nucleotide variant (missense variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 402187	NM_005327.7(HADH):c.349G>T (p.Val117Leu)	HADH (V117L +1 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402186	NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp)	GLDC (N980D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 402185	NM_000153.4(GALC):c.1987T>G (p.Trp663Gly)	GALC (W640G +2 more)	Single nucleotide variant (missense variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 402184	NM_017882.3(CLN6):c.407G>A (p.Arg136His)	CLN6 (R136H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 402177	NM_001253852.3(AP4B1):c.1282G>T (p.Glu428Ter)	AP4B1-AS1, AP4B1 (E428* +2 more)	Single nucleotide variant (nonsense)	Abnormal brain morphology	GLikely pathogenic
Select item 402176	NM_001182.5(ALDH7A1):c.571A>G (p.Ile191Val)	ALDH7A1 (I191V +1 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy +1 more	GLikely pathogenic
Select item 402175	NM_004651.3(USP11):c.722G>A (p.Arg241Gln)	USP11	Single nucleotide variant	Abnormal brain morphology	GLikely pathogenic
Select item 402174	NM_014683.4(ULK2):c.1733A>G (p.His578Arg)	ULK2 (H578R)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402173	NM_013438.5(UBQLN1):c.377del (p.Asn126fs)	UBQLN1 (N126fs)	Deletion (frameshift variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402172	NM_022830.3(TUT1):c.1297G>A (p.Ala433Thr)	TUT1 (A433T)	Single nucleotide variant (missense variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 402171	NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn)	TTI1 (D921N)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402170	NM_003314.3(TTC1):c.784T>G (p.Phe262Val)	PWWP2A, TTC1 (F262V)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402169	NM_021738.3(SVIL):c.3626C>T (p.Ser1209Leu)	SVIL (S783L +3 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402168	NM_012437.6(SNAPIN):c.163C>T (p.Arg55Trp)	SNAPIN (R55W)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402167	NM_001384609.1(SLITRK5):c.2515G>C (p.Glu839Gln)	SLITRK5 (E839Q)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402166	NM_001378902.1(ROS1):c.1121G>C (p.Gly374Ala)	ROS1 (G365A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 402165	NM_007050.6(PTPRT):c.206T>C (p.Val69Ala)	PTPRT (V69A)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402164	NM_007050.6(PTPRT):c.1561-3C>T	PTPRT	Single nucleotide variant (intron variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402163	NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg)	PLEKHG2 (G570R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 402162	NM_032348.4(MXRA8):c.1238T>A (p.Ile413Asn)	MXRA8 (I413N +3 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402161	NM_030624.3(KLHL15):c.1474G>A (p.Val492Ile)	KLHL15 (V492I)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402160	NM_032727.4(INA):c.562G>A (p.Gly188Arg)	INA (G188R)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402159	NM_001552.3(IGFBP4):c.698C>T (p.Thr233Met)	IGFBP4 (T233M)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402158	NM_014877.4(HELZ):c.3322A>G (p.Ile1108Val)	HELZ (I1108V +1 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402157	NM_001520.4(GTF3C1):c.4096G>A (p.Glu1366Lys)	GTF3C1 (E1366K)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402156	NM_020693.4(DSCAML1):c.1231G>A (p.Val411Ile)	DSCAML1 (V275I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 402153	NM_052988.5(CDK10):c.725C>G (p.Thr242Ser)	CDK10 (T171S +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 402152	NM_052988.5(CDK10):c.1070G>A (p.Arg357His)	CDK10 (R286H +2 more)	Single nucleotide variant (missense variant +2 more)	Al Kaissi syndrome +2 more	GConflicting classifications of pathogenicity
Select item 402151	NM_001794.5(CDH4):c.1976G>C (p.Arg659Pro)	CDH4 (R659P +2 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402150	NM_032829.3(FAM222A):c.284A>T (p.His95Leu)	FAM222A, FAM222A-AS1 (H95L)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402149	NM_004319.3(ASTN1):c.2224G>C (p.Gly742Arg)	ASTN1 (G742R +1 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402147	NM_020824.4(ARHGAP21):c.3491T>G (p.Ile1164Arg)	ARHGAP21 (I1164R +4 more)	Single nucleotide variant (missense variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 402146	NM_020987.5(ANK3):c.9652C>T (p.Leu3218Phe)	ANK3 (L3218F)	Single nucleotide variant (missense variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 402145	NM_003054.6(SLC18A2):c.711del (p.Phe238fs)	SLC18A2 (F238fs)	Deletion (frameshift variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402144	NM_018245.3(OGDHL):c.2333C>T (p.Ser778Leu)	OGDHL (S721L +5 more)	Single nucleotide variant (missense variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 402139	NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys)	DHX37 (N419K)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 402138	NM_032656.4(DHX37):c.1460G>A (p.Arg487His)	DHX37 (R487H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +3 more	GConflicting classifications of pathogenicity
Select item 402137	NM_001282874.2(SMARCA1):c.7C>T (p.Gln3Ter)	SMARCA1 (Q3*)	Single nucleotide variant (nonsense)	Abnormal brain morphology	GLikely pathogenic
Select item 402136	NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter)	CPLX1 (E108*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 63 +1 more	GLikely pathogenic
Select item 402135	NM_024783.4(AGBL2):c.1747C>T (p.Arg583Ter)	AGBL2 (R583*)	Single nucleotide variant (nonsense)	Abnormal brain morphology	GLikely pathogenic
Select item 402134	NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln)	VARS1 (R1058Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy +1 more	GLikely pathogenic
Select item 402133	NM_006295.3(VARS1):c.2653C>T (p.Leu885Phe)	VARS1 (L885F)	Single nucleotide variant (missense variant)	Abnormal brain morphology +1 more	GConflicting classifications of pathogenicity
Select item 402132	NM_021222.3(PRUNE1):c.520G>T (p.Gly174Ter)	PRUNE1 (G174*)	Single nucleotide variant (5 prime UTR variant +2 more)	Abnormal brain morphology	GLikely pathogenic
Select item 402131	NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)	PRUNE1 (D106N)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 384335	NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln)	PRUNE1 (R128Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more	GPathogenic/Likely pathogenic
Select item 384334	NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)	PRUNE1 (D30N)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more	GPathogenic/Likely pathogenic
Select item 284280	NM_182961.4(SYNE1):c.19692+3G>A	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign
Select item 280095	NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	SACS (R728* +1 more)	Single nucleotide variant (nonsense)	Abnormal brain morphology +4 more	GPathogenic/Likely pathogenic
Select item 267926	46;XY;t(2;7)(q23;q32);t(5;6)(q23;q26)dn		Translocation	Abnormal brain morphology +1 more	GLikely pathogenic
Select item 212114	NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)	SACS (N1489S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 167718	NM_005634.3(SOX3):c.157G>C (p.Val53Leu)	LOC108281134, SOX3 (V53L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with panhypopituitarism +4 more	GConflicting classifications of pathogenicity
Select item 160052	NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)	STIL (L485F +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 139269	NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)	SPTAN1 (V444I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GBenign
Select item 99940	NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter)	NIPBL (Q2443*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 1 +1 more	GPathogenic
Select item 92493	NM_000153.4(GALC):c.1162-4del	GALC	Deletion (intron variant)	not provided +2 more	GBenign
Select item 30465	NM_005105.5(RBM8A):c.67+32G>C	LIX1L-AS1, RBM8A +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 6783	NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)	DHCR7 (T93M)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic

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