C3714756[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224717	NM_002074.5(GNB1):c.301A>G (p.Met101Val)	GNB1 (M101V +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GPathogenic/Likely pathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder +7 more	GPathogenic/Likely pathogenic
Select item 224711	NM_002074.5(GNB1):c.227A>G (p.Asp76Gly)	GNB1 (D76G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 995786	NM_015557.3(CHD5):c.4171+1G>C	CHD5	Single nucleotide variant (splice donor variant)	Global developmental delay +1 more	GLikely pathogenic
Select item 995775	NM_015557.3(CHD5):c.578G>A (p.Arg193Gln)	CHD5 (R193Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 217823	NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)	MTOR (E1799K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic
Select item 133327	NM_001371928.1(AHDC1):c.2898del (p.Tyr967fs)	AHDC1 (Y967fs)	Deletion (frameshift variant)	Sleep apnea +2 more	GPathogenic
Select item 133328	NM_001371928.1(AHDC1):c.2547del (p.Ser850fs)	AHDC1 (S850fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +3 more	GPathogenic
Select item 133326	NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs)	AHDC1 (C791fs)	Microsatellite (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +4 more	GPathogenic
Select item 984912	NM_014284.3(NCDN):c.1297G>C (p.Glu433Gln)	NCDN (E416Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 984913	NM_014284.3(NCDN):c.1433G>A (p.Arg478Gln)	NCDN (R461Q +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +2 more	GLikely pathogenic
Select item 984914	NM_014284.3(NCDN):c.1492T>C (p.Trp498Arg)	NCDN (W481R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 984915	NM_014284.3(NCDN):c.1955C>T (p.Pro652Leu)	NCDN (P635L +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +2 more	GLikely pathogenic
Select item 1299762	NM_012199.5(AGO1):c.569T>G (p.Leu190Arg)	AGO1 (L115R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures +1 more	GPathogenic/Likely pathogenic
Select item 1299669	NM_012199.5(AGO1):c.583G>A (p.Glu195Lys)	AGO1 (E120K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1299763	NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)	AGO1 (G124S +1 more)	Single nucleotide variant (missense variant)	AGO1-related neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1300186	NM_012199.5(AGO1):c.760G>A (p.Val254Ile)	AGO1, LOC129930123 (V179I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635968	NM_199342.4(SVBP):c.82C>T (p.Gln28Ter)	SVBP (Q28*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly +4 more	GPathogenic/Likely pathogenic
Select item 635969	NM_199342.4(SVBP):c.39_42del (p.Lys13fs)	SVBP (K13fs)	Deletion (frameshift variant)	Microcephaly +2 more	GPathogenic
Select item 16119	NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)	SLC2A1 (R92W)	Single nucleotide variant (missense variant)	Developmental disorder +5 more	GPathogenic/Likely pathogenic
Select item 432	NM_000110.4(DPYD):c.1905+1G>A	DPYD	Single nucleotide variant (splice donor variant)	tegafur response - Toxicity +3 more	Gdrug response
Select item 156414	NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	AP4B1, AP4B1-AS1 (T219fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1183977	NM_002107.7(H3-3A):c.121C>T (p.Arg41Cys)	H3-3A (R41C)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 1183979	NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg)	H3-3A (G91R)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1	GUncertain significance
Select item 690374	NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu)	H3-3A (P122L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1183981	NM_002107.7(H3-3A):c.386G>A (p.Arg129His)	H3-3A (R129H)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 208690	NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser)	ZBTB18 (N461S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 617452	NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His)	ZBTB18 (R464H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 617454	NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)	MYT1L (T739fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 39 +1 more	GPathogenic/Likely pathogenic
Select item 235469	NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln)	MYT1L (R567Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39 +2 more	GPathogenic/Likely pathogenic
Select item 617493	NM_001303052.2(MYT1L):c.1678C>T (p.His560Tyr)	MYT1L (H560Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 375881	NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)	DNMT3A (R693H +3 more)	Single nucleotide variant (missense variant +1 more)	Abnormality of the nervous system +6 more	GConflicting classifications of pathogenicity STier II - Potential
Select item 816634	NM_001287491.2(TET3):c.2722G>T (p.Val908Leu)	TET3 (V908L +1 more)	Single nucleotide variant (missense variant)	Beck-Fahrner syndrome +2 more	GPathogenic/Likely pathogenic
Select item 218082	NM_001395891.1(CLASP1):c.196-570C>T	CLASP1, RNU4ATAC	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 30179	NM_001395891.1(CLASP1):c.196-609C>T	RNU4ATAC, CLASP1	Single nucleotide variant (non-coding transcript variant +1 more)	Lowry-Wood syndrome +5 more	GPathogenic
Select item 224144	NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	LOC129935026, TBR1 (T532fs)	Microsatellite (frameshift variant)	Seizure +12 more	GPathogenic/Likely pathogenic
Select item 12889	NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	SCN1A (R222*)	Single nucleotide variant (nonsense +2 more)	Intellectual disability +6 more	GPathogenic/Likely pathogenic
Select item 2519	NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)	SATB2 (R239*)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic
Select item 4255	NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	CYP27A1 (R395C)	Single nucleotide variant (missense variant)	CYP27A1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 4260	NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	CYP27A1 (R405Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4254	NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	CYP27A1 (R479C)	Single nucleotide variant (missense variant)	CYP27A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 242900	NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp)	GRM7 (R658W)	Single nucleotide variant (missense variant)	Hypotonia +6 more	GPathogenic/Likely pathogenic
Select item 242901	NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys)	GRM7 (T675K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +6 more	GPathogenic/Likely pathogenic
Select item 127103	NM_001080517.3(SETD5):c.2177_2178del (p.Thr726fs)	SETD5 (T628fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GPathogenic
Select item 268185	NM_001003694.2(BRPF1):c.1052_1053del (p.Val351fs)	BRPF1 (V351fs)	Microsatellite (frameshift variant +1 more)	Intellectual disability	GPathogenic
Select item 1902	NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	BTD (Q436H)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 265085	NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)	CTNNB1, LOC126806659 (R535* +1 more)	Single nucleotide variant (nonsense)	Exudative vitreoretinopathy 7 +3 more	GPathogenic
Select item 402130	NM_138615.3(DHX30):c.1685A>G (p.His562Arg)	DHX30 (H562R +2 more)	Single nucleotide variant (missense variant)	Global developmental delay +6 more	GPathogenic
Select item 375373	NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp)	DHX30 (R782W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language +1 more	GPathogenic
Select item 635796	NM_177939.3(P4HTM):c.286dup (p.Gln96fs)	P4HTM (Q96fs)	Duplication (frameshift variant)	Intellectual disability	GUncertain significance
Select item 635795	NM_177939.3(P4HTM):c.482A>C (p.His161Pro)	P4HTM (H161P)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 523657	NM_198880.3(QRICH1):c.1954C>T (p.Arg652Ter)	QRICH1 (R652*)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic
Select item 929435	NM_198880.3(QRICH1):c.832_833del (p.Ser278fs)	QRICH1 (S278fs)	Microsatellite (frameshift variant)	Ververi-Brady syndrome +1 more	GPathogenic
Select item 217264	NM_001349338.3(FOXP1):c.1393A>G (p.Arg465Gly)	FOXP1 (R465G +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more	GPathogenic/Likely pathogenic
Select item 253111	NM_001164342.2(ZBTB20):c.[1847C>T;2221G>A]	ZBTB20 (S616F +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GPathogenic
Select item 437901	NM_005862.3(STAG1):c.1736dup (p.Ser580fs)	STAG1 (S580fs)	Duplication (frameshift variant)	Intellectual disability	GUncertain significance
Select item 592166	NM_001393769.1(MED12L):c.4791-1G>A	P2RY12, MED12L	Single nucleotide variant (splice acceptor variant +1 more)	Intellectual disability +1 more	GPathogenic
Select item 689722	NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)	AP2M1 (R170W +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 60 with seizures +4 more	GPathogenic/Likely pathogenic
Select item 816890	NM_032217.5(ANKRD17):c.5756dup (p.Ala1920fs)	ANKRD17 (A1669fs +3 more)	Duplication (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 441272	NM_000944.5(PPP3CA):c.275A>G (p.His92Arg)	PPP3CA (H92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 932944	NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	CFAP96, UFSP2 (V115E)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 521730	NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter)	TRIO (Q768*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 449111	NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)	TRIO (R1078W)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 830230	NM_007118.4(TRIO):c.6092dup (p.Leu2031fs)	TRIO (L2031fs)	Duplication (frameshift variant +1 more)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 560302	NM_001744.6(CAMK4):c.981+1G>A	CAMK4	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 933143	NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser)	KCNN2 (I566S +1 more)	Indel (missense variant)	Motor tics +3 more	GLikely pathogenic
Select item 156406	NM_005859.5(PURA):c.289A>G (p.Lys97Glu)	PURA (K97E)	Single nucleotide variant (missense variant)	Intellectual disability +5 more	GPathogenic
Select item 156407	NM_005859.5(PURA):c.299T>C (p.Leu100Pro)	PURA (L100P)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 156404	NM_005859.5(PURA):c.307_308del (p.Ser103fs)	PURA (S103fs)	Microsatellite (frameshift variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 156405	NM_005859.5(PURA):c.556C>T (p.Gln186Ter)	PURA (Q186*)	Single nucleotide variant (nonsense)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +5 more	GPathogenic
Select item 156403	NM_005859.5(PURA):c.812_814del (p.Phe271del)	PURA (F271del)	Deletion (inframe_deletion)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome +1 more	GPathogenic
Select item 430918	NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro)	CAMK2A (T286P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53 +1 more	GPathogenic
Select item 430917	NM_015981.4(CAMK2A):c.845A>G (p.His282Arg)	CAMK2A (H282R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53 +1 more	GPathogenic
Select item 218729	NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu)	CAMK2A (P235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 430914	NM_015981.4(CAMK2A):c.548A>T (p.Glu183Val)	CAMK2A (E183V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53 +1 more	GPathogenic
Select item 430913	NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp)	CAMK2A (E109D)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GPathogenic
Select item 430912	NM_015981.4(CAMK2A):c.293T>C (p.Phe98Ser)	CAMK2A (F98S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 53 +1 more	GPathogenic
Select item 39966	NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr)	GRIA1 (A636T +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 67 +1 more	GPathogenic/Likely pathogenic
Select item 973750	NM_001037333.3(CYFIP2):c.1918G>A (p.Glu640Lys)	CYFIP2 (E665K +2 more)	Single nucleotide variant (missense variant)	Intellectual disability	GPathogenic
Select item 487683	NM_001371727.1(GABRB2):c.830T>C (p.Leu277Ser)	GABRB2 (L277S)	Single nucleotide variant (missense variant)	Intellectual disability	GPathogenic
Select item 635853	NM_003107.3(SOX4):c.176T>G (p.Ile59Ser)	SOX4 (I59S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 548142	NM_003107.3(SOX4):c.198C>A (p.Phe66Leu)	SOX4 (F66L)	Single nucleotide variant (missense variant)	Intellectual disability, mild	GLikely pathogenic
Select item 635854	NM_003107.3(SOX4):c.315G>T (p.Lys105Asn)	SOX4 (K105N)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 635852	NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)	SOX4 (A112P)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 1804154	NM_001470.4(GABBR1):c.2018G>A (p.Gly673Asp)	GABBR1 (G496D +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1804152	NM_001470.4(GABBR1):c.1603G>A (p.Ala535Thr)	GABBR1 (A358T +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1804147	NM_001470.4(GABBR1):c.1190C>T (p.Ala397Val)	GABBR1 (A220V +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GLikely pathogenic
Select item 1804153	NM_001470.4(GABBR1):c.1104G>C (p.Glu368Asp)	GABBR1 (E191D +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 691934	NM_003587.5(DHX16):c.2021C>T (p.Thr674Met)	DHX16 (T193M +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 691931	NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile)	DHX16 (F101I +2 more)	Single nucleotide variant (missense variant)	Corpus callosum, agenesis of +7 more	GPathogenic/Likely pathogenic
Select item 691933	NM_003587.5(DHX16):c.1280G>A (p.Gly427Glu)	DHX16 (G367E +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay +3 more	GPathogenic/Likely pathogenic
Select item 41460	NM_006772.3(SYNGAP1):c.2294+1G>A	SYNGAP1-AS1, SYNGAP1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 190286	NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	MEA1, PPP2R5D (E198K +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +6 more	GPathogenic
Select item 981386	NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter)	ZNF292 (R89*)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 431106	NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs)	ZNF292 (E882fs +1 more)	Deletion (frameshift variant)	Intellectual disability +1 more	GPathogenic
Select item 981392	NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)	ZNF292 (E1914fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 985841	NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr)	GRIK2 (A657T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures +2 more	GPathogenic
Select item 1180451	NM_021956.5(GRIK2):c.1979C>G (p.Thr660Arg)	GRIK2 (T660R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures +3 more	GPathogenic
Select item 870382	NM_021956.5(GRIK2):c.1979C>A (p.Thr660Lys)	GRIK2 (T660K)	Single nucleotide variant (missense variant)	GRIK2-related neurodevelopmental disorder	GPathogenic
Select item 561981	NM_003931.3(WASF1):c.1558C>T (p.Gln520Ter)	WASF1 (Q520*)	Single nucleotide variant (nonsense)	Epileptic encephalopathy +2 more	GPathogenic

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