ClinVar for MedGen (Select 48638) - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570682	NM_001367479.1(DNAH14):c.3406A>C (p.Lys1136Gln)	DNAH14 (K1136Q)	Single nucleotide variant (missense variant)	Seizure +4 more	GUncertain significance
Select item 2570681	NM_001367479.1(DNAH14):c.5237T>C (p.Leu1746Ser)	DNAH14 (L1746S)	Single nucleotide variant (missense variant)	Seizure +4 more	GUncertain significance
Select item 2499555	NM_001303457.2(TTI1):c.2513C>T (p.Ser838Leu)	TTI1 (S838L)	Single nucleotide variant (missense variant)	Intellectual disability, severe	GLikely pathogenic
Select item 2499554	NM_001303457.2(TTI1):c.2998+2T>C	TTI1	Single nucleotide variant (splice donor variant)	Intellectual disability, severe	GPathogenic
Select item 1708023	NM_032635.4(TMEM147):c.344+5G>A	TMEM147	Single nucleotide variant (intron variant)	Poor speech +4 more	GPathogenic
Select item 1684631	Single allele	LINC01893, LOC126862798 +279 more	Deletion	Pulmonary valve stenosis +10 more	GPathogenic
Select item 1679183	NM_003622.4(PPFIBP1):c.2629C>T (p.Arg877Ter)	PPFIBP1 (R730* +3 more)	Single nucleotide variant (nonsense)	Cerebral calcification +3 more	GPathogenic
Select item 1679182	NM_003622.4(PPFIBP1):c.1300C>T (p.Gln434Ter)	PPFIBP1 (Q298* +3 more)	Single nucleotide variant (nonsense)	Cerebral calcification +3 more	GPathogenic
Select item 1679181	NM_003622.4(PPFIBP1):c.1417_1427del (p.Ala473fs)	PPFIBP1 (A337fs +3 more)	Deletion (frameshift variant)	Cerebral calcification +3 more	GPathogenic
Select item 1679180	NM_003622.4(PPFIBP1):c.403C>T (p.Arg135Ter)	PPFIBP1 (R135*)	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral calcification +3 more	GPathogenic
Select item 1679179	NM_003622.4(PPFIBP1):c.1468C>T (p.Gln490Ter)	PPFIBP1 (Q354* +3 more)	Single nucleotide variant (nonsense)	Cerebral calcification +3 more	GPathogenic
Select item 1679178	NM_003622.4(PPFIBP1):c.2413C>T (p.Arg805Ter)	PPFIBP1 (R658* +3 more)	Single nucleotide variant (nonsense)	Cerebral calcification +3 more	GPathogenic
Select item 1679177	NM_003622.4(PPFIBP1):c.1368_1369del (p.Glu456fs)	PPFIBP1 (E320fs +3 more)	Microsatellite (frameshift variant)	Seizure +3 more	GPathogenic
Select item 1679176	NM_003622.4(PPFIBP1):c.2654del (p.Tyr885fs)	PPFIBP1 (Y738fs +3 more)	Deletion (frameshift variant)	Cerebral calcification +3 more	GPathogenic
Select item 1679175	NM_003622.4(PPFIBP1):c.1146+1G>A	PPFIBP1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities +4 more	GPathogenic
Select item 1679120	NM_003622.4(PPFIBP1):c.2177G>T (p.Gly726Val)	PPFIBP1 (G579V +3 more)	Single nucleotide variant (missense variant)	Cerebral calcification +3 more	GUncertain significance
Select item 1325849	NM_001277.3(CHKA):c.2T>C (p.Met1Thr)	CHKA (M1T)	Single nucleotide variant (missense variant +3 more)	Microcephaly +2 more	GUncertain significance
Select item 1325848	NM_001277.3(CHKA):c.1021T>C (p.Phe341Leu)	CHKA (F201L +5 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly +2 more	GLikely pathogenic
Select item 1325847	NM_001277.3(CHKA):c.14dup (p.Cys6fs)	CHKA (C6fs)	Duplication (frameshift variant +2 more)	Microcephaly +2 more	GLikely pathogenic
Select item 1325846	NM_001277.3(CHKA):c.580C>T (p.Pro194Ser)	CHKA (P176S +4 more)	Single nucleotide variant (missense variant +2 more)	Microcephaly +2 more	GLikely pathogenic
Select item 1325845	NM_001277.3(CHKA):c.421C>T (p.Arg141Trp)	CHKA (R141W +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly +2 more	GLikely pathogenic
Select item 1285526	NM_130811.4(SNAP25):c.596C>G (p.Ala199Gly)	SNAP25 (A199G)	Single nucleotide variant (missense variant)	Intellectual disability, severe +1 more	GPathogenic/Likely pathogenic
Select item 996741	NM_012233.3(RAB3GAP1):c.151-5T>G	RAB3GAP1	Single nucleotide variant (intron variant)	Cryptorchidism +17 more	GPathogenic
Select item 996037	NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val)	COPB1 (F551V)	Single nucleotide variant (missense variant)	Baralle-Macken syndrome	GPathogenic
Select item 996016	NM_001144061.2(COPB1):c.957+1G>T	COPB1	Single nucleotide variant (splice donor variant)	Baralle-Macken syndrome +3 more	GPathogenic/Likely pathogenic
Select item 977487	NM_001378414.1(HDAC4):c.731C>A (p.Thr244Lys)	HDAC4 (T244K)	Single nucleotide variant (missense variant)	HDAC4-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 933142	NM_021614.4(KCNN2):c.1116C>A (p.Tyr372Ter)	KCNN2 (Y372* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, severe +3 more	GPathogenic
Select item 916544	NM_003491.4(NAA10):c.47A>C (p.His16Pro)	NAA10 (H16P)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 812085	NM_002516.4(NOVA2):c.782del (p.Val261fs)	NOVA2 (V261fs)	Deletion (frameshift variant)	Intellectual disability, severe	GPathogenic
Select item 805790	NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)	ST3GAL3 (R173C +14 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 12	GLikely pathogenic
Select item 689379	NM_014168.4(METTL5):c.344_345del (p.Arg115fs)	METTL5 (R115fs)	Deletion (frameshift variant)	Intellectual disability, severe	GPathogenic
Select item 689363	NM_014168.4(METTL5):c.571_572del (p.Lys191fs)	METTL5 (K191fs)	Deletion (frameshift variant)	Intellectual disability, severe +1 more	GPathogenic/Likely pathogenic
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 625208	NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)	BCS1L (G173D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 625207	NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)	BCS1L (R90C)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 617640	NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)	FLNA (R1312C)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 523481	NM_005249.5(FOXG1):c.1067del (p.Phe356fs)	FOXG1 (F356fs)	Deletion (frameshift variant)	Intellectual disability, severe +2 more	GLikely pathogenic
Select item 523435	NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	PRMT7 (E108* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +17 more	GPathogenic/Likely pathogenic
Select item 523434	NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)	PRMT7 (C571* +4 more)	Single nucleotide variant (nonsense +1 more)	Insulin resistance +14 more	GPathogenic
Select item 523381	NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg)	GRIN2B (M739R)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome +10 more	GLikely pathogenic
Select item 523258	GRCh37/hg19 17p11.2(chr17:16936603-18184130)	ALKBH5, MIEF2 +20 more	Copy number loss	Brachydactyly +14 more	GPathogenic
Select item 521576	NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del)	AGO1 (F180del +1 more)	Microsatellite (inframe_deletion)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 374178	NM_001206744.2(TPO):c.1558C>T (p.His520Tyr)	TPO (H520Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +7 more	GLikely pathogenic
Select item 374155	NM_004667.6(HERC2):c.6976del (p.Ile2325_Leu2326insTer)	HERC2	Deletion (nonsense)	Optic nerve hypoplasia +7 more	GPathogenic
Select item 371634	NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)	NAGLU (Y140C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2V +10 more	GPathogenic/Likely pathogenic
Select item 279981	NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)	KCNH1 (R357Q +1 more)	Single nucleotide variant (missense variant)	Temple-Baraitser syndrome +4 more	GPathogenic/Likely pathogenic
Select item 268043	46;XY;der(2)inv(2)(p21p22);der(5)t(5;7)(p14.3;q32);der(7)t(7;2;5)(7pter-7p22.3::7q32-7p22.3::5p14.3-5p15.1::2p22-2p21::5p15.1-5pter)dn		Complex	Setting-sun eye phenomenon +16 more	GPathogenic
Select item 268005	46;XX;t(8;14)(q21.2;q12)dn		Translocation	Hypoplasia of the frontal lobes +11 more	GLikely pathogenic
Select item 267927	46;XY;t(4;14)(p14;q11.2)dn		Translocation	Epicanthus +28 more	GUncertain significance
Select item 267905	46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn		Translocation	Posteriorly placed tongue +17 more	GLikely pathogenic
Select item 267896	46;XX;t(2;8)(q33;p21)dn		Translocation	Intellectual disability, severe +5 more	GLikely pathogenic
Select item 267859	46;XX;t(17;18)(p13;p11.2)dn		Translocation	Intellectual disability, severe +8 more	GUncertain significance
Select item 267816	46;XY;inv(5)(q13q15)dn		Inversion	Partial duplication of thumb phalanx +4 more	GLikely pathogenic
Select item 236207	NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser)	SCN8A (L267S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 222073	NM_052867.4(NALCN):c.3390G>A (p.Pro1130=)	NALCN	Single nucleotide variant (synonymous variant)	Strabismus +4 more	GPathogenic
Select item 217823	NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)	MTOR (E1799K)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +5 more	GPathogenic
Select item 217725	NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	TMEM67 (R360C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +23 more	GConflicting classifications of pathogenicity
Select item 207418	NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)	STXBP1 (R190Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 205963	NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	KCNQ3 (R230C +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +8 more	GPathogenic/Likely pathogenic
Select item 183285	NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del)	CACNA1G (F223del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 50031	NM_000548.5(TSC2):c.4662+1G>A	TSC2	Single nucleotide variant (splice donor variant)	Lymphangiomyomatosis +3 more	GPathogenic
Select item 39975	NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro)	CAMK2G (R292P +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder 59 +4 more	GPathogenic/Likely pathogenic
Select item 30986	NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)	ASXL1 (R404* +1 more)	Single nucleotide variant (nonsense)	dystrophia +14 more	GPathogenic
Select item 11728	NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)	ATRX (R2348* +1 more)	Single nucleotide variant (nonsense)	not provided +9 more	GPathogenic
Select item 8396	NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)	CSTB (R68*)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy +10 more	GPathogenic
Select item 1564	NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)	NAGLU (S169fs)	Deletion (frameshift variant)	Abnormal facial shape +10 more	GPathogenic
Select item 1383	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	TMEM67 (C615R +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 11 +26 more	GPathogenic/Likely pathogenic

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Items: 67