ClinVar (all) for Orgtrack (Select 505315) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363159	NM_014822.4(SEC24D):c.-167C>T	SEC24D	Single nucleotide variant (5 prime UTR variant)	Cole-Carpenter syndrome 2	GUncertain significance
Select item 3363158	NM_000089.4(COL1A2):c.2187+1G>C	COL1A2	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 3363157	NM_182943.3(PLOD2):c.1754A>T (p.Asp585Val)	PLOD2 (D564V +1 more)	Single nucleotide variant (missense variant)	Bruck syndrome 2	GLikely pathogenic
Select item 3363156	NM_000346.4(SOX9):c.1320_1321insCACCA (p.Asp441fs)	SOX9 (D441fs)	Insertion (frameshift variant)	Camptomelic dysplasia	GPathogenic
Select item 3363155	NM_000089.4(COL1A2):c.2234G>A (p.Gly745Glu)	COL1A2 (G745E)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type III	GLikely pathogenic
Select item 3363154	NM_005850.5(SF3B4):c.788dup (p.Pro264fs)	SF3B4 (P264fs)	Duplication (frameshift variant)	Nager syndrome	GPathogenic
Select item 3363153	NM_000088.4(COL1A1):c.2444G>A (p.Gly815Asp)	COL1A1 (G815D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 3236825	NM_014225.6(PPP2R1A):c.400C>T (p.Arg134Trp)	PPP2R1A (R134W)	Single nucleotide variant (5 prime UTR variant +2 more)	Houge-Janssens syndrome 2	GLikely pathogenic
Select item 3220865	NM_033109.5(PNPT1):c.162-2A>C	PNPT1	Single nucleotide variant (splice acceptor variant)	Spinocerebellar ataxia type 25	GLikely pathogenic
Select item 3220864	NM_022552.5(DNMT3A):c.2105A>G (p.Asp702Gly)	DNMT3A (D513G +3 more)	Single nucleotide variant (missense variant +1 more)	Tatton-Brown-Rahman overgrowth syndrome	GLikely pathogenic
Select item 3220863	Single allele	HBA1, HBA2 +3 more	Deletion	alpha Thalassemia	GPathogenic
Select item 3220862	NM_024528.4(NKAP):c.1037C>T (p.Ser346Leu)	NKAP (S346L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	GUncertain significance
Select item 3220861	NM_024665.7(TBL1XR1):c.1379G>T (p.Gly460Val)	TBL1XR1 (G373V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GLikely pathogenic
Select item 3220860	NM_000388.4(CASR):c.611dup (p.Arg205fs)	CASR (R205fs)	Duplication (frameshift variant)	Familial hypocalciuric hypercalcemia 1	GLikely pathogenic
Select item 3220859	NM_000314.8(PTEN):c.520T>C (p.Tyr174His)	PTEN (Y174H +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome	GLikely pathogenic
Select item 3220858	NM_002834.5(PTPN11):c.763C>T (p.Gln255Ter)	PTPN11 (Q254* +1 more)	Single nucleotide variant (nonsense)	Metachondromatosis	GLikely pathogenic
Select item 2687876	NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)	COL2A1 (G1026D +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II	GPathogenic
Select item 2687875	NM_001567.4(INPPL1):c.1397T>A (p.Ile466Asn)	INPPL1 (I466N)	Single nucleotide variant (missense variant)	Opsismodysplasia	GUncertain significance
Select item 2687874	NM_001844.5(COL2A1):c.1266+1G>T	COL2A1	Single nucleotide variant (splice donor variant)	Kniest dysplasia	GPathogenic
Select item 2599968	NM_002296.4(LBR):c.1127C>G (p.Pro376Arg)	LBR (P376R)	Single nucleotide variant (missense variant)	Greenberg dysplasia +1 more	GUncertain significance
Select item 2502068	NM_000138.5(FBN1):c.3964G>A (p.Asp1322Asn)	FBN1 (D1322N)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2090560	NM_203475.3(PORCN):c.887G>C (p.Arg296Pro)	PORCN (R214P +4 more)	Single nucleotide variant (missense variant)	Focal dermal hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 2042461	NM_001375405.1(CEP120):c.2917C>T (p.Arg973Ter)	CEP120 (R782* +3 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 13 with or without polydactyly	GConflicting classifications of pathogenicity
Select item 1721046	NM_000478.6(ALPL):c.370A>G (p.Asn124Asp)	ALPL (N124D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1526136	NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser)	CNGB3 (L405S)	Single nucleotide variant (missense variant)	Achromatopsia 3	GConflicting classifications of pathogenicity
Select item 1511392	NM_000314.8(PTEN):c.71A>T (p.Asp24Val)	PTEN (D24V +1 more)	Single nucleotide variant (missense variant +1 more)	Cowden syndrome 1 +1 more	GLikely pathogenic
Select item 1488790	NM_001163435.3(TBCK):c.382-2A>G	TBCK	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic
Select item 1387764	NM_000478.6(ALPL):c.459G>A (p.Trp153Ter)	ALPL (W76* +2 more)	Single nucleotide variant (nonsense)	Infantile hypophosphatasia +2 more	GPathogenic/Likely pathogenic
Select item 1325706	NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter)	GRIN2A (E58*)	Single nucleotide variant (nonsense)	Landau-Kleffner syndrome	GPathogenic/Likely pathogenic
Select item 988577	NM_000038.6(APC):c.1085del (p.Gly362fs)	APC (G303fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 988576	NM_000127.3(EXT1):c.1018C>G (p.Arg340Gly)	EXT1 (R340G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 988575	NM_000059.4(BRCA2):c.1818_1819del (p.Lys607fs)	BRCA2 (K607fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988574	NM_000348.4(SRD5A2):c.164T>C (p.Leu55Pro)	SRD5A2 (L55P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 988573	NM_001008212.2(OPTN):c.565G>T (p.Glu189Ter)	OPTN (E189*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988572	NM_000500.9(CYP21A2):c.923_924dup (p.Leu309fs)	CYP21A2, LOC106780800 (L174fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 988571	NM_000153.4(GALC):c.293dup (p.Leu98fs)	GALC (L72fs +2 more)	Duplication (frameshift variant)	Galactosylceramide beta-galactosidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 988570	NM_012414.4(RAB3GAP2):c.214del (p.Thr72fs)	RAB3GAP2 (T72fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988569	NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)	COL2A1 (G618S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 988568	NM_205768.3(ZBTB18):c.246dup (p.Ala83fs)	ZBTB18 (A74fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 988567	NM_000138.5(FBN1):c.6042TGA[1] (p.Asp2015del)	FBN1 (D2015del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 988566	NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter)	COL10A1, NT5DC1 (W651*)	Single nucleotide variant (nonsense +1 more)	Metaphyseal chondrodysplasia, Schmid type +1 more	GConflicting classifications of pathogenicity
Select item 988565	NM_006260.5(DNAJC3):c.1243C>T (p.Arg415Ter)	DNAJC3 (R415*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 988564	NM_007317.3(KIF22):c.443C>A (p.Pro148Gln)	KIF22 (P148Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988563	NM_005921.2(MAP3K1):c.2273T>C (p.Leu758Pro)	MAP3K1 (L758P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988562	NM_152641.4(ARID2):c.300del (p.Lys99_Tyr100insTer)	ARID2	Deletion (nonsense)	not provided	GPathogenic
Select item 988561	NM_000153.4(GALC):c.1934T>G (p.Leu645Arg)	GALC (L619R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988560	NM_170665.4(ATP2A2):c.544_545insAACCCGCTTAG (p.Gly182delinsGluProAlaTer)	ATP2A2	Insertion (nonsense)	not provided	GLikely pathogenic
Select item 988559	NM_021625.5(TRPV4):c.2400C>G (p.Gly800=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 988558	NM_001451.3(FOXF1):c.75del (p.Met26fs)	FOXF1 (M26fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988557	NM_000059.4(BRCA2):c.2476G>T (p.Glu826Ter)	BRCA2 (E826*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988556	NM_007294.4(BRCA1):c.5578del (p.His1860fs)	BRCA1 (H1813fs +3 more)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 988555	NM_000090.4(COL3A1):c.2716G>A (p.Gly906Ser)	COL3A1 (G906S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 988554	NM_000088.4(COL1A1):c.614dup (p.Gly206fs)	COL1A1 (G206fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 988553	NM_024529.5(CDC73):c.700C>T (p.Arg234Ter)	CDC73 (R234*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 988552	NM_001370259.2(MEN1):c.312_315del (p.Leu105fs)	MEN1 (L105fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988551	NM_004364.5(CEBPA):c.436dup (p.Leu146fs)	CEBPA (L132fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 988550	NM_001197104.2(KMT2A):c.5260A>T (p.Asn1754Tyr)	KMT2A (N1751Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 988549	NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter)	LMX1B (Q109*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 988548	NM_000516.7(GNAS):c.31del (p.Asp11fs)	GNAS (D11fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 988547	NM_001349338.3(FOXP1):c.447dup (p.Gln150fs)	FOXP1 (Q149fs +3 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 988546	NM_005422.4(TECTA):c.5317C>T (p.Arg1773Ter)	TBCEL-TECTA, TECTA (R1773* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 988545	NM_001613.4(ACTA2):c.766C>A (p.Arg256Ser)	ACTA2, ACTA2-AS1 (R256S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 988544	NM_001374828.1(ARID1B):c.2618_2619insCTCAACCC (p.Gln874fs)	ARID1B (Q41fs +2 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 988543	NM_001142966.3(GREB1L):c.4530G>C (p.Lys1510Asn)	GREB1L (K1510N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988542	NM_199242.3(UNC13D):c.1366C>T (p.Gln456Ter)	UNC13D (Q456*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988541	NM_000127.3(EXT1):c.416del (p.Glu139fs)	EXT1 (E139fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988540	NM_001323289.2(CDKL5):c.1008del (p.Gln336fs)	CDKL5 (Q336fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988539	NM_198525.3(KIF7):c.1019dup (p.Asn341fs)	KIF7 (N341fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 988538	NM_001451.3(FOXF1):c.322A>G (p.Lys108Glu)	FOXF1 (K108E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 988537	NM_004364.5(CEBPA):c.655_656insG (p.His219fs)	CEBPA (H100fs +3 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 988536	NM_001356.5(DDX3X):c.600T>A (p.Tyr200Ter)	DDX3X (Y14* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 988535	NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 988534	NM_000251.3(MSH2):c.1363_1364del (p.Glu455fs)	MSH2 (E389fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988533	NM_001356.5(DDX3X):c.1658_1662del (p.Thr553fs)	DDX3X (T367fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 988532	NM_007294.4(BRCA1):c.5084_5089del (p.Phe1695_Val1696del)	BRCA1	Deletion (inframe_indel +2 more)	not provided	GLikely pathogenic
Select item 988531	NM_001370259.2(MEN1):c.1548del (p.Lys517fs)	MEN1 (K482fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988530	NM_003119.4(SPG7):c.1259C>T (p.Thr420Ile)	SPG7 (T420I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988529	NM_199242.3(UNC13D):c.762del (p.Cys255fs)	UNC13D (C255fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GPathogenic
Select item 988528	NM_000346.4(SOX9):c.1196_1199del (p.Thr399fs)	SOX9 (T399fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988527	NM_003467.3(CXCR4):c.952dup (p.Thr318fs)	CXCR4 (T303fs +4 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 988526	NM_013275.6(ANKRD11):c.6760G>T (p.Gly2254Ter)	ANKRD11 (G2254*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988525	NM_144997.7(FLCN):c.1301_1302del	FLCN	Microsatellite (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 988524	NM_020975.6(RET):c.440_442del (p.Phe147del)	RET (F147del)	Deletion (inframe_indel +1 more)	not provided	GPathogenic
Select item 988523	NM_001368894.2(PAX6):c.463_464dup (p.Met156fs)	PAX6 (M142fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 988522	NM_000038.6(APC):c.2555T>A (p.Leu852Ter)	APC (L569* +12 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 1 +2 more	GPathogenic
Select item 988521	NM_018075.5(ANO10):c.611T>G (p.Phe204Cys)	ANO10 (F138C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 988520	NM_020458.4(TTC7A):c.1580T>C (p.Leu527Pro)	TTC7A (L173P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988519	NM_020458.4(TTC7A):c.76dup (p.Trp26fs)	MCFD2, TTC7A (W17fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 988518	NM_000251.3(MSH2):c.2680_2681dup (p.Met894fs)	MSH2 (M828fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 988517	NM_182943.3(PLOD2):c.497C>G (p.Ser166Ter)	PLOD2, LOC129389144 (S166*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 988516	NM_003070.5(SMARCA2):c.1600G>C (p.Asp534His)	SMARCA2 (D534H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988515	NM_001015880.2(PAPSS2):c.1053G>A (p.Trp351Ter)	PAPSS2 (W346* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988514	NM_024529.5(CDC73):c.1394C>G (p.Ser465Ter)	CDC73 (S465*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988513	NM_000059.4(BRCA2):c.480_489del (p.Gly162fs)	BRCA2 (G162fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 988512	NM_001365308.1(BMPER):c.942G>A (p.Trp314Ter)	BMPER (W314*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988511	NM_001365308.1(BMPER):c.416C>G (p.Thr139Arg)	BMPER (T139R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988510	NM_000044.6(AR):c.2225G>C (p.Trp742Ser)	AR (W210S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988509	NM_000153.4(GALC):c.1107C>G (p.Ser369Arg)	GALC (S343R +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 988508	NM_004959.5(NR5A1):c.100A>T (p.Lys34Ter)	NR5A1 (K34*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 988507	NM_000500.9(CYP21A2):c.418G>A (p.Val140Met)	CYP21A2, LOC106780800 (V110M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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