ClinVar for MedGen (Select 1695950) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068230	NM_001198533.2(OXR1):c.1028A>G (p.Glu343Gly)	OXR1 (E336G +2 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 2441971	NM_001198533.2(OXR1):c.2308G>A (p.Asp770Asn)	OXR1 (D113N +5 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 2434535	NM_001198533.2(OXR1):c.1957-11262G>A	OXR1 (W5*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1805978	NM_001198533.2(OXR1):c.221-21184C>T	LOC130000962, OXR1 (L14F)	Single nucleotide variant (missense variant +1 more)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 1326983	NM_001198533.2(OXR1):c.2340G>A (p.Glu780=)	OXR1	Single nucleotide variant (synonymous variant)	Congenital cerebellar hypoplasia +1 more	GBenign
Select item 1077137	NM_001374828.1(ARID1B):c.1637_1638del (p.Ala546fs)	ARID1B (A546fs)	Deletion (frameshift variant)	Congenital cerebellar hypoplasia +1 more	GLikely pathogenic
Select item 996959	NM_001198533.2(OXR1):c.2163+5G>A	OXR1	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 979057	Single allele	OPHN1	Deletion	Congenital cerebellar hypoplasia	GLikely pathogenic
Select item 812999	NM_000303.3(PMM2):c.584A>G (p.His195Arg)	PMM2 (H195R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 812931	NC_000023.11:g.41506506_41542250del	CASK	Deletion	Congenital cerebellar hypoplasia +4 more	GLikely pathogenic
Select item 694397	NM_001198533.2(OXR1):c.2163+1G>T	OXR1	Single nucleotide variant (splice donor variant)	Congenital cerebellar hypoplasia	GPathogenic
Select item 694396	NM_001198533.2(OXR1):c.1100C>G (p.Ser367Ter)	OXR1 (S360* +2 more)	Single nucleotide variant (nonsense)	Congenital cerebellar hypoplasia	GPathogenic
Select item 694388	NM_001198533.2(OXR1):c.2317-1G>C	OXR1	Single nucleotide variant (splice acceptor variant)	Congenital cerebellar hypoplasia	GLikely pathogenic
Select item 694387	NM_001198533.2(OXR1):c.1324del (p.Ser442fs)	OXR1 (S435fs +2 more)	Deletion (frameshift variant)	Intellectual disability +3 more	GPathogenic/Likely pathogenic
Select item 694386	NM_018002.3(OXR1):c.[1100C>G;2082+1G>T]	OXR1 (S360* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability +2 more	GLikely pathogenic
Select item 637018	NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg)	ATAD3A (L406R +2 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia	GPathogenic
Select item 633618	NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)	WDR37 (T130I)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome +7 more	GPathogenic/Likely pathogenic
Select item 633617	NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)	WDR37 (S119F)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome +6 more	GPathogenic/Likely pathogenic
Select item 633616	NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)	WDR37 (S129C)	Single nucleotide variant (missense variant)	Epilepsy +5 more	GLikely pathogenic
Select item 632606	NM_017412.4(FZD3):c.1616dup (p.Asp539fs)	FZD3 (D539fs)	Duplication (frameshift variant)	Corpus callosum, agenesis of +4 more	GLikely pathogenic
Select item 632605	NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys)	TMLHE (R93C)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +2 more	GLikely pathogenic
Select item 632604	NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)	KIF4A (R265L)	Single nucleotide variant (missense variant)	Ventriculomegaly +5 more	GLikely pathogenic
Select item 632603	NM_001356.5(DDX3X):c.1439G>C (p.Arg480Thr)	DDX3X (R480T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 632602	NM_001367721.1(CASK):c.2120dup (p.Tyr708fs)	CASK (Y708fs +2 more)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability Najm type +1 more	GPathogenic/Likely pathogenic
Select item 632601	NM_001367721.1(CASK):c.533-2A>G	CASK	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 632600	NM_001367721.1(CASK):c.2156-1G>A	CASK	Single nucleotide variant (splice acceptor variant +1 more)	Syndromic X-linked intellectual disability Najm type +1 more	GLikely pathogenic
Select item 632599	NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn)	TUBA1A (K60N +1 more)	Single nucleotide variant (missense variant)	Corpus callosum, agenesis of +3 more	GLikely pathogenic
Select item 632598	NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)	AUTS2 (T534P)	Single nucleotide variant (missense variant)	Multiple congenital anomalies +3 more	GLikely pathogenic
Select item 632597	NM_001371928.1(AHDC1):c.997del (p.Ala333fs)	AHDC1 (A333fs)	Deletion (frameshift variant)	Cerebellar vermis hypoplasia +2 more	GPathogenic/Likely pathogenic
Select item 632596	NM_020320.5(RARS2):c.848T>A (p.Leu283Gln)	RARS2 (L283Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 632595	NM_020320.5(RARS2):c.1650+5G>A	RARS2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 632590	NM_032108.4(SEMA6B):c.1834G>A (p.Val612Met)	SEMA6B (V612M)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +2 more	GUncertain significance
Select item 632589	NM_001394062.1(MACF1):c.22313G>A (p.Arg7438Gln)	MACF1 (R5313Q +1 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +2 more	GUncertain significance
Select item 632588	NM_023110.3(FGFR1):c.1881G>C (p.Arg627Ser)	FGFR1 (R538S +7 more)	Single nucleotide variant (missense variant)	Cerebellar vermis hypoplasia +2 more	GPathogenic/Likely pathogenic
Select item 632586	NM_022893.4(BCL11A):c.295del (p.Val99fs)	BCL11A (V99fs)	Deletion (frameshift variant)	Cerebellar vermis hypoplasia +3 more	GPathogenic/Likely pathogenic
Select item 632585	NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs)	BCL11A (V500fs +1 more)	Deletion (frameshift variant +1 more)	Congenital cerebellar hypoplasia +1 more	GPathogenic/Likely pathogenic
Select item 523488	NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)	ARID1A (D1697G +1 more)	Single nucleotide variant (missense variant)	Microcephaly +7 more	GConflicting classifications of pathogenicity
Select item 523464	NM_001367721.1(CASK):c.2236+1delinsAT	CASK	Indel (splice donor variant)	Hypertonia +4 more	GLikely pathogenic
Select item 523448	NM_002016.2(FLG):c.544A>T (p.Lys182Ter)	CCDST, FLG (K182*)	Single nucleotide variant (nonsense)	Microcephaly +7 more	GPathogenic
Select item 523408	NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala)	BCOR (T1531A +2 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +4 more	GUncertain significance
Select item 523297	GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)	ADGRG2, MAP3K15 +2 more	Copy number gain	Global developmental delay +4 more	GUncertain significance
Select item 498786	NM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter)	FOXP1 (Q208* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 440948	NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)	WDR37 (T125I)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +6 more	GPathogenic/Likely pathogenic
Select item 429871	NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)	SPTAN1 (R1610W +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 5 +2 more	GPathogenic/Likely pathogenic
Select item 388568	NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)	SETD2 (R1740W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 379736	NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)	DKC1 (R378Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 374192	NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro)	OPHN1 (L249P)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +5 more	GLikely pathogenic
Select item 374086	NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)	DYNC1H1 (P2547L)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 374085	NM_016955.4(SEPSECS):c.388+5G>A	SEPSECS	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia +7 more	GLikely pathogenic
Select item 366384	NM_003383.5(VLDLR):c.595_598dup	VLDLR	Duplication (3 prime UTR variant)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 366383	NM_003383.5(VLDLR):c.*551T>C	VLDLR	Single nucleotide variant (3 prime UTR variant)	Congenital cerebellar hypoplasia +2 more	GBenign/Likely benign
Select item 366382	NM_003383.5(VLDLR):c.*517G>C	VLDLR	Single nucleotide variant (3 prime UTR variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366381	NM_003383.5(VLDLR):c.*490T>G	VLDLR	Single nucleotide variant (3 prime UTR variant)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 366380	NM_003383.5(VLDLR):c.*460G>A	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
Select item 366379	NM_003383.5(VLDLR):c.*180G>A	VLDLR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 366378	NM_003383.5(VLDLR):c.*83C>T	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
Select item 366377	NM_003383.5(VLDLR):c.*63C>T	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
Select item 366376	NM_003383.5(VLDLR):c.*48C>T	VLDLR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 366375	NM_003383.5(VLDLR):c.*16T>C	VLDLR	Single nucleotide variant (3 prime UTR variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366374	NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr)	VLDLR (I849T +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +3 more	GUncertain significance
Select item 366373	NM_003383.5(VLDLR):c.2103A>C (p.Ser701=)	VLDLR	Single nucleotide variant (synonymous variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366372	NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys)	VLDLR (R656C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 366371	NM_003383.5(VLDLR):c.1791G>A (p.Ala597=)	VLDLR	Single nucleotide variant (synonymous variant)	Congenital cerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 366370	NM_003383.5(VLDLR):c.1755A>C (p.Gly585=)	VLDLR	Single nucleotide variant (synonymous variant)	Congenital cerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 366369	NM_003383.5(VLDLR):c.1703+10C>G	VLDLR	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366368	NM_003383.5(VLDLR):c.1066+14T>C	VLDLR	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 366367	NM_003383.5(VLDLR):c.943+10del	VLDLR	Deletion (intron variant)	Congenital cerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 366366	NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala)	VLDLR (G288A +1 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +2 more	GUncertain significance
Select item 366365	NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys)	VLDLR (G288C +1 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +2 more	GUncertain significance
Select item 366364	NM_003383.5(VLDLR):c.692G>A (p.Arg231His)	VLDLR (R231H +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +2 more	GUncertain significance
Select item 366363	NM_003383.5(VLDLR):c.582C>T (p.Gly194=)	VLDLR	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 366362	NM_003383.5(VLDLR):c.540C>T (p.Ser180=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 366361	NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly)	VLDLR (R169G +1 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366360	NM_003383.5(VLDLR):c.449-12C>T	VLDLR	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 366359	NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp)	LOC130001468, VLDLR +1 more (A24D)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +3 more	GConflicting classifications of pathogenicity
Select item 366358	NM_003383.5(VLDLR):c.-19_-18insGGCACCGGC	VLDLR, VLDLR-AS1	Insertion (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 366357	NM_003383.5(VLDLR):c.-25_-24insATCCAG	VLDLR, VLDLR-AS1	Insertion (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 366356	NM_003383.5(VLDLR):c.-42GGC[4]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 366355	NM_003383.5(VLDLR):c.-42GGC[7]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 366354	NM_003383.5(VLDLR):c.-56C>T	VLDLR, VLDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +2 more	GBenign
Select item 366353	NM_003383.5(VLDLR):c.-56_-54del	VLDLR, VLDLR-AS1	Deletion (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 366352	NM_003383.5(VLDLR):c.-69A>G	VLDLR, VLDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +2 more	GBenign
Select item 366351	NM_003383.5(VLDLR):c.-111C>T	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 366350	NM_003383.5(VLDLR):c.-113C>G	VLDLR-AS1, VLDLR	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 366349	NM_003383.5(VLDLR):c.-121C>T	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366348	NM_003383.5(VLDLR):c.-122T>C	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
Select item 366347	NM_003383.5(VLDLR):c.-171G>C	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 366346	NM_003383.5(VLDLR):c.-167dup	VLDLR, VLDLR-AS1	Duplication (5 prime UTR variant)	Congenital cerebellar hypoplasia	GUncertain significance
Select item 366345	NM_003383.5(VLDLR):c.-335C>T	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366344	NM_003383.5(VLDLR):c.-392C>T	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +2 more	GUncertain significance
Select item 290493	NM_003383.5(VLDLR):c.-42GGC[5]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 287823	NM_003383.5(VLDLR):c.-42GGC[9]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 267908	46;XY;t(3;18)(q13.2;q11.2)dn		Translocation	Congenital cerebellar hypoplasia +4 more	GUncertain significance
Select item 212564	NM_003383.5(VLDLR):c.792C>T (p.Cys264=)	VLDLR	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 212561	NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)	VLDLR (I244M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 212555	NM_003383.5(VLDLR):c.1838G>A (p.Arg613His)	VLDLR (R613H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 212553	NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)	VLDLR (N511S +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 211043	NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)	FOXP1 (A15V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +3 more	GConflicting classifications of pathogenicity
Select item 207813	NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)	DDX3X (R376C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102 +1 more	GPathogenic/Likely pathogenic
Select item 204596	NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)	KIAA0586 (Q150fs +5 more)	Deletion (frameshift variant)	Joubert syndrome 23 +3 more	GPathogenic

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