ClinVar for MedGen (Select 1644158) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
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 2498188	NM_178864.4(NPAS4):c.481_487del (p.Ser161fs)	NPAS4 (S161fs)	Deletion (5 prime UTR variant +1 more)	Microcephaly	GUncertain significance
Select item 1804056	NM_003601.4(SMARCA5):c.1301_1306del (p.Ile434_Leu435del)	SMARCA5	Deletion (inframe_deletion)	Short stature +3 more	GPathogenic
Select item 1804031	NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)	PSMC3 (R304W)	Single nucleotide variant (missense variant)	Microretrognathia +11 more	GPathogenic
Select item 1804024	NM_001697.3(ATP5PO):c.34C>T (p.Gln12Ter)	ATP5PO, LOC130066573 (Q12*)	Single nucleotide variant (nonsense)	Severe global developmental delay +3 more	GPathogenic
Select item 1804019	NM_001697.3(ATP5PO):c.329-20A>G	ATP5PO	Single nucleotide variant (intron variant)	Severe global developmental delay +3 more	GPathogenic
Select item 1804007	NM_005916.5(MCM7):c.133C>T (p.Gln45Ter)	MCM7 (Q45*)	Single nucleotide variant (5 prime UTR variant +1 more)	Deeply set eye +8 more	GPathogenic
Select item 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
Select item 1710147	NM_001303512.2(PDZD4):c.10_16del (p.Asn4fs)	PDZD4 (N4fs)	Deletion (frameshift variant +1 more)	Hyperactivity +4 more	GUncertain significance
Select item 1705937	GRCh37/hg19 7q36.3(chr7:155389460-157960969)x1	RBM33, DNAJB6 +7 more	Copy number loss	Microcephaly	GPathogenic
Select item 1699905	NM_173630.4(RTTN):c.6638T>C (p.Leu2213Ser)	RTTN (L1301S +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GLikely pathogenic
Select item 1697213	NM_001659.3(ARF3):c.379A>G (p.Lys127Glu)	ARF3 (K127E)	Single nucleotide variant (missense variant)	Hypotonia +6 more	GPathogenic
Select item 1697212	NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	ARF3 (D93N)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +17 more	GPathogenic/Likely pathogenic
Select item 1697211	NM_001659.3(ARF3):c.200A>T (p.Asp67Val)	ARF3 (D67V)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GPathogenic
Select item 1697208	NM_001659.3(ARF3):c.34C>G (p.Leu12Val)	ARF3 (L12V)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GLikely pathogenic
Select item 1684631	Single allele	LINC01922, LINC01927 +279 more	Deletion	Nystagmus +10 more	GPathogenic
Select item 1683777	NM_000260.4(MYO7A):c.4827G>A (p.Val1609=)	MYO7A	Single nucleotide variant (synonymous variant)	Microcephaly +3 more	GUncertain significance
Select item 1679388	NM_005548.3(KARS1):c.256C>T (p.Gln86Ter)	KARS1 (Q114* +1 more)	Single nucleotide variant (nonsense +1 more)	Microcephaly +3 more	GLikely pathogenic
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 1363003	NM_173630.4(RTTN):c.4444dup (p.Tyr1482fs)	RTTN (Y1482fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1344836	NM_001099922.3(ALG13):c.2272G>T (p.Val758Phe)	ALG13 (V596F +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GLikely pathogenic
Select item 1330212	GRCh37/hg19 1q21.1(chr1:145324298-146018577)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	Microcephaly +6 more	GUncertain significance
Select item 1330205	GRCh37/hg19 Xp22.31(chrX:6624655-7894210)x1	PNPLA4, PUDP +2 more	Copy number loss	Atonic seizure +2 more	GUncertain significance
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1330155	NM_012414.4(RAB3GAP2):c.1153C>T (p.Arg385Cys)	RAB3GAP2 (R385C)	Single nucleotide variant (missense variant)	Warburg micro syndrome 2 +4 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 1299498	NM_002161.6(IARS1):c.1953T>G (p.Asp651Glu)	IARS1 (D610E +4 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly +1 more	GUncertain significance
Select item 1299497	NM_002161.6(IARS1):c.578delinsTT (p.Glu193fs)	IARS1 (E152fs +2 more)	Indel (frameshift variant +1 more)	Microcephaly +1 more	GLikely pathogenic
Select item 1285534	NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter)	SNAP25 (K201*)	Single nucleotide variant (nonsense)	Microcephaly +5 more	GConflicting classifications of pathogenicity
Select item 1185004	NM_024063.3(AFG2B):c.[213T>G;1313T>C]	AFG2B (F71L +1 more)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder +6 more	GLikely pathogenic
Select item 1173069	NM_005916.5(MCM7):c.776G>C (p.Gly259Ala)	MCM7 (G259A +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome +9 more	GPathogenic
Select item 1172630	NM_000875.5(IGF1R):c.1906_1907dup (p.Pro637fs)	IGF1R (P637fs)	Microsatellite (frameshift variant)	Microcephaly +1 more	GLikely pathogenic
Select item 1172617	NM_015354.3(NUP188):c.1851_1852delinsG (p.Cys617fs)	NUP188 (C617fs)	Indel (frameshift variant)	Microcephaly +1 more	GLikely pathogenic
Select item 1172616	NM_015354.3(NUP188):c.3515+1G>A	NUP188	Single nucleotide variant (splice donor variant)	Microcephaly +1 more	GLikely pathogenic
Select item 1172613	NM_138576.4(BCL11B):c.1938_1950del (p.Ala647fs)	BCL11B (A575fs +3 more)	Deletion (frameshift variant)	Microcephaly	GLikely pathogenic
Select item 1172591	NM_018136.5(ASPM):c.727C>T (p.Arg243Ter)	ASPM (R243*)	Single nucleotide variant (nonsense)	Microcephaly	GPathogenic
Select item 1120267	NM_018017.4(CCDC186):c.767C>G (p.Ser256Ter)	CCDC186 (S256*)	Single nucleotide variant (nonsense +1 more)	EEG with spike-wave complexes +9 more	GPathogenic
Select item 1098852	NM_018117.12(WDR11):c.3033_3036del	WDR11	Microsatellite (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1098851	NM_018117.12(WDR11):c.1439del (p.Asn480fs)	WDR11 (N480fs)	Deletion (frameshift variant)	Microcephaly	GPathogenic
Select item 1098850	NM_018117.12(WDR11):c.2931+1G>A	WDR11	Single nucleotide variant (splice donor variant)	Microcephaly	GPathogenic
Select item 1098849	NM_018117.12(WDR11):c.1255C>T (p.Gln419Ter)	WDR11 (Q419*)	Single nucleotide variant (nonsense)	Microcephaly	GPathogenic
Select item 1077144	NM_015412.4(NEPRO):c.1168G>A (p.Ala390Thr)	NEPRO (A187T +6 more)	Single nucleotide variant (missense variant +1 more)	Abnormal cerebral white matter morphology +1 more	GUncertain significance
Select item 1077143	NM_015412.4(NEPRO):c.1529G>T (p.Gly510Val)	NEPRO (G307V +6 more)	Single nucleotide variant (missense variant +1 more)	Abnormal cerebral white matter morphology +1 more	GUncertain significance
Select item 1064447	NM_004523.4(KIF11):c.2922G>T (p.Pro974=)	KIF11	Single nucleotide variant (synonymous variant)	Microcephaly	GPathogenic
Select item 1047907	NM_032141.4(NSRP1):c.52C>T (p.Gln18Ter)	NSRP1 (Q18*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1047906	NM_032141.4(NSRP1):c.1272dup (p.Lys425fs)	NSRP1 (K371fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities +4 more	GPathogenic
Select item 1047905	NM_032141.4(NSRP1):c.1359_1362del (p.Glu455fs)	NSRP1 (E401fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities +4 more	GPathogenic
Select item 1047901	GRCh37/hg19 12p13.32(chr12:3619010-5221363)	TIGAR, AKAP3 +14 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 1047884	GRCh37/hg19 Xp11.4(chrX:41553564-41696352)	CASK, GPR34 +1 more	Copy number loss	Neurodevelopmental delay +1 more	GPathogenic
Select item 1047878	GRCh37/hg19 Xp11.4-11.3(chrX:41342834-43901936)	CASK, GPR34 +4 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 1047876	GRCh37/hg19 1q43-44(chr1:240554955-247342593)	AHCTF1, AKT3 +31 more	Copy number loss	Cerebellar vermis hypoplasia +5 more	GPathogenic
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	POT1, PTPRZ1 +35 more	Copy number loss	Short stature +2 more	GPathogenic
Select item 1047869	GRCh37/hg19 5q31.2(chr5:136409875-137739167)	BRD8, CDC23 +13 more	Copy number loss	Neurodevelopmental delay +1 more	GPathogenic
Select item 997077	GRCh37/hg19 Xp22.33(chrX:61091-787353)		Copy number loss	Generalized hypotonia +3 more	GPathogenic
Select item 996140	NM_001042424.3(NSD2):c.2789G>A (p.Trp930Ter)	NSD2 (W930*)	Single nucleotide variant (nonsense)	Microcephaly	GUncertain significance
Select item 996037	NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val)	COPB1 (F551V)	Single nucleotide variant (missense variant)	Baralle-Macken syndrome +4 more	GPathogenic/Likely pathogenic
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 992744	NM_182641.4(BPTF):c.4927A>C (p.Ser1643Arg)	BPTF (S1643R +1 more)	Single nucleotide variant (missense variant)	Microcephaly +1 more	GUncertain significance
Select item 992737	NM_005787.6(ALG3):c.199A>C (p.Thr67Pro)	ALG3 (T19P +1 more)	Single nucleotide variant (missense variant +1 more)	Seizure +2 more	GUncertain significance
Select item 992733	NM_018012.4(KIF26B):c.2110C>T (p.Arg704Cys)	KIF26B (R704C)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 992629	NM_145697.3(NUF2):c.371T>G (p.Ile124Ser)	NUF2 (I124S)	Single nucleotide variant (missense variant)	Short stature +1 more	GPathogenic
Select item 983212	NM_005157.6(ABL1):c.1517T>C (p.Val506Ala)	ABL1 (V506A +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome +1 more	GPathogenic/Likely pathogenic
Select item 982414	NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser)	COL4A1 (G1186S)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies +1 more	GLikely pathogenic
Select item 982160	NM_015021.3(ZNF292):c.3460_3463del (p.Val1154fs)	ZNF292 (V1014fs +1 more)	Microsatellite (frameshift variant)	Short stature +2 more	GLikely pathogenic
Select item 977446	NM_018230.3(NUP133):c.1216C>T (p.Gln406Ter)	NUP133 (Q406*)	Single nucleotide variant (nonsense)	Microcephaly +2 more	GUncertain significance
Select item 977428	NM_001379291.1(BRD4):c.710_711del (p.Pro237fs)	BRD4 (P237fs)	Deletion (frameshift variant)	Microcephaly +1 more	GLikely pathogenic
Select item 977316	NM_001112.4(ADARB1):c.1993G>T (p.Ala665Ser)	ADARB1 (A665S +1 more)	Single nucleotide variant (missense variant +2 more)	Microcephaly +2 more	GBenign
Select item 975932	NM_002336.3(LRP6):c.4361dup (p.Ser1455fs)	LRP6 (S1455fs)	Duplication (frameshift variant)	Sparse scalp hair +4 more	GUncertain significance
Select item 974791	GRCh37/hg19 7q21.3(chr7:95931567-97254397)x1	C7orf76, DLX5 +4 more	Copy number loss	Microcephaly +1 more	GLikely pathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 974789	GRCh37/hg19 6q16.1(chr6:96028232-97247130)x1	MANEA, UFL1 +3 more	Copy number loss	Microcephaly +1 more	GLikely pathogenic
Select item 973602	GRCh37/hg19 17q12(chr17:36473175-36567469)x3	ARHGAP23, GPR179 +4 more	Copy number gain	Microcephaly +1 more	GUncertain significance
Select item 932944	NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	CFAP96, UFSP2 (V115E)	Single nucleotide variant (missense variant +1 more)	UFSP2-related neurodevelopmental disorder +9 more	GConflicting classifications of pathogenicity
Select item 929503	NM_005632.2:c.2904+1_2905-45del	CAPN15	Deletion	imperforated anus +10 more	GLikely pathogenic
Select item 917748	NM_002745.5(MAPK1):c.964G>C (p.Glu322Gln)	MAPK1 (E322Q)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 917743	NM_002745.5(MAPK1):c.238C>T (p.His80Tyr)	MAPK1 (H80Y)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917742	NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)	MAPK1 (I74N)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917488	NM_181336.4(LEMD2):c.1436C>T (p.Ser479Phe)	LEMD2 (S177F +2 more)	Single nucleotide variant (missense variant)	Reduced bone mineral density +18 more	GLikely pathogenic
Select item 916029	NM_000834.5(GRIN2B):c.1439_1446del (p.Leu480fs)	GRIN2B (L480fs)	Deletion (frameshift variant)	Atypical behavior +6 more	GPathogenic
Select item 873324	Single allele	BARX1, FAM120A +11 more	Duplication	Delayed gross motor development +5 more	GLikely pathogenic
Select item 873019	NM_173685.4(NSMCE2):c.465T>G (p.Asp155Glu)	NSMCE2 (D155E)	Single nucleotide variant (missense variant +1 more)	Dysmorphic features +4 more	GUncertain significance
Select item 870348	NM_000844.4(GRM7):c.1180G>A (p.Glu394Lys)	GRM7 (E394K)	Single nucleotide variant (missense variant)	Bilateral multifocal epileptiform discharges +2 more	GPathogenic
Select item 870099	NM_001356.5(DDX3X):c.1746del (p.Ser583fs)	DDX3X (S583fs +2 more)	Deletion (frameshift variant +1 more)	Delayed speech and language development +2 more	GPathogenic
Select item 813720	GRCh37/hg19 2q23.1(chr2:148710290-149021799)	ORC4, MBD5	Copy number loss	Microcephaly	GPathogenic
Select item 813719	GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458)	MAOB, DDX3X +6 more	Copy number loss	Microcephaly	GPathogenic

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