ClinVar (all) for Orgtrack (Select 505516) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184865	NM_032597.5(MS4A14):c.167_168dup (p.Val57fs)	MS4A14 (V57fs)	Duplication (frameshift variant +1 more)	Essential tremor	GUncertain significance
Select item 1184864	NM_002425.3(MMP10):c.32_33del (p.Cys11fs)	MMP10 (C11fs)	Microsatellite (frameshift variant)	Essential tremor	GUncertain significance
Select item 1184863	NM_001039374.5(CCDC183):c.1025G>A (p.Trp342Ter)	CCDC183, CCDC183-AS1 (W342*)	Single nucleotide variant (nonsense)	Essential tremor	GLikely pathogenic
Select item 1184862	NM_015465.5(GEMIN5):c.2519_2522del (p.Ile840fs)	GEMIN5 (I839fs +1 more)	Deletion (frameshift variant)	Essential tremor	GUncertain significance
Select item 1184861	NM_183375.5(PRSS48):c.127_131del (p.Val43fs)	PRSS48, SH3D19 (V43fs)	Deletion (frameshift variant +1 more)	Essential tremor	GUncertain significance
Select item 1184860	NM_001005516.1(OR5K3):c.904del (p.Ile302fs)	OR5K3 (I302fs)	Deletion (frameshift variant)	Essential tremor	GUncertain significance
Select item 1184859	NM_001005517.1(OR5K4):c.901dup (p.Ile301fs)	OR5K4 (I301fs)	Duplication (frameshift variant)	Essential tremor	GUncertain significance
Select item 1184858	NM_003241.4(TGM4):c.806G>A (p.Trp269Ter)	TGM4 (W269*)	Single nucleotide variant (nonsense)	Essential tremor	GLikely pathogenic
Select item 1184857	NM_001145710.2(FAM228B):c.907del (p.Gln303fs)	FAM228B (Q166fs +1 more)	Deletion (frameshift variant +1 more)	Essential tremor	GUncertain significance
Select item 1184856	NM_005157.6(ABL1):c.1388G>A (p.Gly463Asp)	ABL1 (G463D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1184855	NM_182895.5(SCARF2):c.466TGCCAG[1] (p.156CQ[1])	SCARF2	Microsatellite (inframe_deletion)	Van den Ende-Gupta syndrome	GPathogenic
Select item 1184854	NM_182895.5(SCARF2):c.651C>G (p.Cys217Trp)	SCARF2 (C217W)	Single nucleotide variant (missense variant)	Van den Ende-Gupta syndrome	GPathogenic
Select item 1184853	Single allele	LMBR1	Deletion	Acheiropodia	GLikely pathogenic
Select item 1184852	NM_005787.6(ALG3):c.410_411insTGTCTTCTTGCT (p.Leu137_Leu138insValPheLeuLeu)	ALG3	Insertion (inframe_insertion +1 more)	ALG3-congenital disorder of glycosylation	GLikely pathogenic
Select item 1184851	NM_005787.6(ALG3):c.521A>G (p.Asn174Ser)	ALG3 (N126S +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely pathogenic
Select item 1184850	NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr)	ALG3 (R337T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 1184849	NM_005787.6(ALG3):c.611C>T (p.Ala204Val)	ALG3 (A156V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1184848	NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)	ALG3 (R218C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1184847	NM_005787.6(ALG3):c.749T>A (p.Leu250Gln)	ALG3 (L202Q +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1184846	NM_005787.6(ALG3):c.656T>C (p.Leu219Pro)	ALG3 (L171P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1184845	NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)	SLC37A4 (R350* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IIw +2 more	GPathogenic/Likely pathogenic
Select item 1184844	NM_152703.5(SAMD9L):c.2658_2659del (p.Phe886fs)	SAMD9L (F886fs)	Deletion (frameshift variant)	interferonopathy	GLikely pathogenic
Select item 1184843	NM_001256071.3(RNF213):c.11986_11989delinsGGGTTAG (p.Pro3996_Cys3997delinsGlyLeuGly)	RNF213, RNF213-AS1	Indel (inframe_indel)	not provided	GPathogenic
Select item 1184842	NM_001256071.3(RNF213):c.12341C>G (p.Thr4114Arg)	RNF213, RNF213-AS1 (T4114R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184841	NM_020719.3(PRR12):c.2353_2360del (p.Ala785fs)	PRR12 (A785fs)	Deletion (frameshift variant)	complex microphthalmia	GLikely pathogenic
Select item 1184840	NM_020719.3(PRR12):c.677dup (p.Tyr227fs)	PRR12 (Y227fs)	Duplication (frameshift variant)	complex microphthalmia	GLikely pathogenic
Select item 1184839	NM_020719.3(PRR12):c.2045del (p.Gly682fs)	PRR12 (G682fs)	Deletion (frameshift variant)	complex microphthalmia	GLikely pathogenic
Select item 1184838	NM_020719.3(PRR12):c.5624-2A>G	PRR12	Single nucleotide variant (splice acceptor variant)	complex microphthalmia +1 more	GPathogenic/Likely pathogenic
Select item 1184837	NM_005560.6(LAMA5):c.6148C>T (p.Arg2050Cys)	LAMA5 (R2050C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184836	NM_005560.6(LAMA5):c.4213G>A (p.Ala1405Thr)	LAMA5 (A1405T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1184835	NM_032415.7(CARD11):c.358+1G>A	CARD11, CARD11-AS1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1184834	NM_032415.7(CARD11):c.215G>T (p.Arg72Leu)	CARD11 (R72L)	Single nucleotide variant (missense variant)	Immunodeficiency 11b with atopic dermatitis	GLikely pathogenic
Select item 1184833	NM_032415.7(CARD11):c.128C>T (p.Thr43Met)	CARD11 (T43M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1184832	NM_001619.5(GRK2):c.555+1G>A	GRK2	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 1184831	NM_001619.5(GRK2):c.1348_1349del (p.Ser450fs)	GRK2 (S450fs)	Microsatellite (frameshift variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 1184830	NM_001619.5(GRK2):c.469C>T (p.Leu157Phe)	GRK2 (L157F)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GPathogenic
Select item 1184829	NM_002133.3(HMOX1):c.636+2T>A	HMOX1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1184828	Single allele	BLK, CTSB +6 more	Duplication	Thoracic aortic aneurysm	GLikely pathogenic
Select item 1184827	NM_019055.6(ROBO4):c.703G>A (p.Val235Met)	ROBO4 (V235M +1 more)	Single nucleotide variant (missense variant)	Thoracic aortic aneurysm	GLikely pathogenic
Select item 1184826	NM_019055.6(ROBO4):c.2389G>T (p.Glu797Ter)	ROBO4 (E652* +1 more)	Single nucleotide variant (nonsense)	Thoracic aortic aneurysm	GLikely pathogenic
Select item 1184825	NM_005585.5(SMAD6):c.86G>C (p.Gly29Ala)	SMAD6 (G29A)	Single nucleotide variant (missense variant +1 more)	Thoracic aortic aneurysm	GLikely pathogenic
Select item 1184824	NM_001099922.3(ALG13):c.204AGA[1] (p.Glu69del)	ALG13 (E69del)	Microsatellite (inframe_deletion +3 more)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 1184823	NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val)	ALG13 (G894V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1184822	NM_001267550.2(TTN):c.92478dup (p.Val30827fs)	TTN, TTN-AS1 (V21762fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1184821	GRCh37/hg19 1p36.11(chr1:27001498-27110331)x3	ARID1A	Copy number gain	ARID1A duplication associated intellectual disability syndrome	GLikely pathogenic
Select item 1184820	NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys)	ARID1B (R1133C +3 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 1184819	NM_018389.5(SLC35C1):c.887A>G (p.His296Arg)	SLC35C1 (H283R +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GLikely pathogenic
Select item 1184818	NM_004380.3(CREBBP):c.5609CCA[1] (p.Thr1871del)	CREBBP (T1833del +1 more)	Microsatellite (inframe_deletion)	Menke-Hennekam syndrome 1	GLikely pathogenic
Select item 1184817	GRCh37/hg19 Xp22.31(chrX:6454182-8115193)x1	PNPLA4, PUDP +2 more	Copy number loss	X-linked deletion syndrome	GLikely pathogenic
Select item 1184816	NM_004606.5(TAF1):c.1A>T (p.Met1Leu)	TAF1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Intellectual disability, X-linked, syndromic 33 +1 more	GLikely pathogenic; association
Select item 1184815	NM_015100.4(POGZ):c.1679-3C>G	POGZ	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1184814	GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4	ERICH5, POP1 +2 more	Copy number gain	Cohen syndrome	GLikely pathogenic
Select item 1184813	NM_017755.6(NSUN2):c.1903A>G (p.Asn635Asp)	NSUN2 (N600D +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 5	GLikely pathogenic
Select item 1184812	NM_014727.3(KMT2B):c.6439C>T (p.Gln2147Ter)	KMT2B (Q2147*)	Single nucleotide variant (nonsense)	Dystonic disorder	GLikely pathogenic
Select item 1184811	NM_001005182.2(OR6C1):c.24del (p.Glu9fs)	OR6C1 (E9fs)	Deletion (frameshift variant)	Essential tremor	GUncertain significance
Select item 1174575	NM_005585.5(SMAD6):c.572T>C (p.Leu191Pro)	SMAD6 (L191P)	Single nucleotide variant (missense variant +1 more)	Radioulnar synostosis +4 more	GConflicting classifications of pathogenicity
Select item 1172674	NM_005787.6(ALG3):c.72G>A (p.Trp24Ter)	ALG3 (W24*)	Single nucleotide variant (nonsense +2 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 1033166	NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter)	SKIC2 (R79*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1023675	NM_005633.4(SOS1):c.2230A>G (p.Arg744Gly)	SOS1 (R737G +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 996751	NM_005881.4(BCKDK):c.646_649del (p.Asp216fs)	BCKDK (D216fs)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 996740	NM_001127392.3(MYRF):c.239dup (p.Gly81fs)	MYRF (G72fs +1 more)	Duplication (frameshift variant)	Heart, malformation of +2 more	GLikely pathogenic
Select item 996739	NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg)	NOTCH1 (Q2393R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5	GUncertain significance
Select item 996738	NM_017617.5(NOTCH1):c.2741-1G>A	NOTCH1	Single nucleotide variant (splice acceptor variant)	Hypoplastic left heart syndrome	GLikely pathogenic
Select item 996737	NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs)	NOTCH1 (T551fs)	Duplication (frameshift variant)	Hypoplastic left heart syndrome	GLikely pathogenic
Select item 996736	NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter)	NOTCH1 (C359*)	Single nucleotide variant (nonsense)	Hypoplastic left heart syndrome	GLikely pathogenic
Select item 996735	NM_133443.4(GPT2):c.844A>G (p.Ile282Val)	GPT2 (I182V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 996734	NM_020159.5(SMARCAD1):c.2557T>A (p.Ser853Thr)	SMARCAD1 (S423T +5 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 996733	NM_005427.4(TP73):c.901G>A (p.Asp301Asn)	LOC129929200, TP73 (D230N +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 996732	NM_001377534.1(DYNLT4):c.631G>C (p.Ala211Pro)	DYNLT4 (A211P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 996731	NM_019040.5(ELP4):c.284del (p.Ser95fs)	ELP4 (S95fs)	Deletion (frameshift variant)	Autism spectrum disorder	Gassociation
Select item 996730	NM_024490.4(ATP10A):c.2397C>A (p.Tyr799Ter)	ATP10A (Y799*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	Gassociation
Select item 996729	NM_003286.4(TOP1):c.1217A>T (p.His406Leu)	PLCG1-AS1, TOP1 (H406L)	Single nucleotide variant (non-coding transcript variant +1 more)	Autism spectrum disorder	Gassociation
Select item 996728	NM_001378457.1(DMXL2):c.6137C>T (p.Ala2046Val)	DMXL2 (A1373V +3 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	Gassociation
Select item 996727	NM_003320.5(TUB):c.139G>A (p.Gly47Ser)	TUB (G47S)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 996726	NM_021135.6(RPS6KA2):c.1696G>A (p.Gly566Arg)	RPS6KA2 (G468R +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 996725	NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs)	TRIOBP (L1154fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 996724	NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg)	TMPRSS3 (C280R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GPathogenic/Likely pathogenic
Select item 996723	NM_001256317.3(TMPRSS3):c.767C>T (p.Ala256Val)	TMPRSS3 (A129V +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive	GLikely pathogenic
Select item 996722	NM_001256317.3(TMPRSS3):c.581G>T (p.Cys194Phe)	TMPRSS3 (C194F +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive	GLikely pathogenic
Select item 996721	NM_001256317.3(TMPRSS3):c.271C>T (p.Arg91Ter)	TMPRSS3 (R91*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 996720	NM_138691.3(TMC1):c.2035G>A (p.Glu679Lys)	TMC1 (E679K)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive	GLikely pathogenic
Select item 996719	NM_138691.3(TMC1):c.1788C>A (p.Ser596Arg)	TMC1 (S596R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive	GLikely pathogenic
Select item 996718	NM_138691.3(TMC1):c.1753_1754insA (p.Gly585fs)	TMC1 (G585fs)	Insertion (frameshift variant)	Hearing loss, autosomal recessive	GLikely pathogenic
Select item 996717	NM_000260.4(MYO7A):c.3136dup (p.Leu1046fs)	MYO7A (L1035fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 996716	NM_015542.4(UPF2):c.91G>T (p.Val31Leu)	UPF2 (V31L)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 996715	NM_015324.4(RRP8):c.803G>A (p.Arg268His)	RRP8 (R268H)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 996714	NM_001038603.3(MARVELD2):c.1138C>T (p.Gln380Ter)	MARVELD2 (Q380*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive	GLikely pathogenic
Select item 996713	NM_001382.4(DPAGT1):c.116_117delinsAA (p.Ala39Glu)	DPAGT1, LOC126861360 (A39E)	Indel (missense variant)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 996712	NM_001382.4(DPAGT1):c.1117C>G (p.Pro373Ala)	DPAGT1 (P373A)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 996711	NM_005045.4(RELN):c.6613_6614del (p.Phe2205fs)	RELN (F2205fs)	Deletion (frameshift variant)	Lissencephaly	GLikely pathogenic
Select item 996710	NM_001382.4(DPAGT1):c.2T>C (p.Met1Thr)	DPAGT1, LOC126861360 (M1T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GLikely pathogenic
Select item 996709	NM_001143831.3(GRM5):c.523A>G (p.Thr175Ala)	GRM5 (T175A)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 996708	NM_001093.4(ACACB):c.1963A>G (p.Ser655Gly)	ACACB (S655G)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 996707	NM_004535.3(MYT1):c.2138C>T (p.Ser713Phe)	MYT1 (S713F)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 996706	NM_019108.4(SMG9):c.947A>G (p.His316Arg)	SMG9 (H316R)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 996705	Single allele	FBXO11, FOXN2 +2 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 996704	Single allele	FBXO11	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 996703	NM_001190274.2(FBXO11):c.2700_2703dup (p.Ala902fs)	FBXO11, MSH6 (A818fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 996702	NM_001190274.2(FBXO11):c.2084-6_2085dup	FBXO11	Duplication (splice acceptor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 996701	NM_001190274.2(FBXO11):c.2084-1G>A	FBXO11	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GLikely pathogenic

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