ClinVar (all) for Orgtrack (Select 506497) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2686033	NM_007327.4(GRIN1):c.1592A>G (p.Lys531Arg)	GRIN1 (K531R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 8	GLikely pathogenic
Select item 2673278	NM_004780.3(TCEAL1):c.311_314del (p.Glu104fs)	TCEAL1 (E104fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked	GLikely pathogenic
Select item 2673277	NM_004780.3(TCEAL1):c.324_333del (p.Ser109fs)	TCEAL1 (S109fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked	GLikely pathogenic
Select item 2673276	NM_004780.3(TCEAL1):c.151G>T (p.Glu51Ter)	TCEAL1 (E51*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked	GLikely pathogenic
Select item 2673275	NM_004780.3(TCEAL1):c.61G>T (p.Glu21Ter)	TCEAL1 (E21*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked	GLikely pathogenic
Select item 1328504	NM_016358.3(IRX4):c.690C>T (p.Gly230=)	IRX4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1328503	NM_001111125.3(IQSEC2):c.1417G>A (p.Glu473Lys)	IQSEC2 (E268K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328502	NM_005902.4(SMAD3):c.1151A>G (p.Tyr384Cys)	SMAD3 (Y189C +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 1328501	NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser)	FBN2 (T664S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 1328500	NM_000350.3(ABCA4):c.4535C>T (p.Pro1512Leu)	ABCA4 (P1512L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328499	NM_014384.3(ACAD8):c.173G>A (p.Arg58Gln)	ACAD8 (R58Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1328498	NM_013291.3(CPSF1):c.2058G>T (p.Lys686Asn)	CPSF1 (K686N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328497	NM_002471.4(MYH6):c.3352G>A (p.Glu1118Lys)	MYH6 (E1118K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 1328496	NM_000513.2(OPN1MW):c.1013G>T (p.Gly338Val)	OPN1MW (G338V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328495	NM_005422.4(TECTA):c.5669G>A (p.Arg1890His)	TBCEL-TECTA, TECTA (R1890H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328494	NM_001039213.4(CEACAM16):c.673C>T (p.Arg225Cys)	CEACAM16, CEACAM16-AS1 (R225C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328493	NM_000180.4(GUCY2D):c.799G>C (p.Gly267Arg)	GUCY2D (G267R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328492	NM_003240.5(LEFTY2):c.223G>A (p.Gly75Arg)	LEFTY2 (G75R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328372	NM_170707.4(LMNA):c.937-5T>A	LMNA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1328371	NM_001009944.3(PKD1):c.8161+7C>T	PKD1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1328369	NM_001846.4(COL4A2):c.3356G>T (p.Gly1119Val)	COL4A2 (G1119V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1328366	NM_138289.4(ACTRT1):c.731C>T (p.Pro244Leu)	ACTRT1 (P244L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328365	NM_002224.4(ITPR3):c.1714-3C>A	ITPR3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1328364	NM_020812.4(DOCK6):c.38T>C (p.Ile13Thr)	DOCK6 (I13T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328363	NM_020921.4(NIN):c.5584A>G (p.Met1862Val)	NIN (M1149V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328362	NM_002666.5(PLIN1):c.990C>T (p.Gly330=)	PLIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328361	NM_025159.3(TASL):c.223C>A (p.His75Asn)	TASL (H75N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328360	NM_080425.4(GNAS):c.1524C>T (p.Ala508=)	GNAS (P446L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1328359	NM_001009944.3(PKD1):c.3569G>A (p.Arg1190His)	PKD1 (R1190H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328357	NM_001369268.1(ACAN):c.4321A>G (p.Thr1441Ala)	ACAN (T1441A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328356	NM_000875.5(IGF1R):c.237G>A (p.Thr79=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1328355	NM_017669.4(ERCC6L):c.1193G>A (p.Arg398His)	ERCC6L, PIN4 (R275H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1328354	NM_001308093.3(GATA4):c.1070G>T (p.Ser357Ile)	GATA4 (S108I +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1328352	NM_001171020.2(PWWP3B):c.27C>A (p.Asn9Lys)	PWWP3B (N9K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328351	NM_080425.4(GNAS):c.1680C>A (p.Gly560=)	GNAS (A498D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1328350	NM_015589.6(SAMD4A):c.563A>G (p.Asn188Ser)	SAMD4A (N188S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328349	NM_001122772.3(AGAP2):c.486C>A (p.Gly162=)	AGAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1328346	NM_001166701.4(VCF2):c.20+272T>C	VCF2 (L6S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1328345	NM_000208.4(INSR):c.2766C>T (p.Ser922=)	INSR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1328344	NM_003890.3(FCGBP):c.4585C>T (p.Pro1529Ser)	FCGBP (P1529S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328343	NM_024753.5(TTC21B):c.1656_1659del (p.Leu551_Cys552insTer)	TTC21B	Deletion (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1328342	NM_000823.4(GHRHR):c.170C>T (p.Ala57Val)	GHRHR (A57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328341	NM_001369268.1(ACAN):c.400G>A (p.Glu134Lys)	ACAN (E134K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1328340	NM_175914.5(HNF4A):c.50-4665C>T	HNF4A	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1328339	NM_006201.5(CDK16):c.1442T>C (p.Met481Thr)	CDK16 (M481T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328337	NM_153834.4(ADGRG4):c.7558G>A (p.Val2520Ile)	ADGRG4 (V2520I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328335	NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)	IFT140 (R1072*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1328334	NM_001009944.3(PKD1):c.11412-6C>T	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1328333	NM_001267550.2(TTN):c.72454G>C (p.Gly24152Arg)	TTN, TTN-AS1 (G15087R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328332	NM_006005.3(WFS1):c.47C>T (p.Pro16Leu)	WFS1 (P16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328331	NM_001846.4(COL4A2):c.316-17dup	COL4A2	Duplication (intron variant)	not provided	GBenign
Select item 1328330	NM_002016.2(FLG):c.3896G>A (p.Arg1299Gln)	CCDST, FLG (R1299Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328329	NM_198576.4(AGRN):c.1479G>A (p.Ala493=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8	GLikely benign
Select item 1328328	NM_002016.2(FLG):c.5839T>C (p.Trp1947Arg)	CCDST, FLG (W1947R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328327	NM_000179.3(MSH6):c.1991C>G (p.Ser664Ter)	MSH6 (S362* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1328326	NM_001807.6(CEL):c.777+7G>A	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8	GLikely benign
Select item 1328325	NM_001122772.3(AGAP2):c.485G>A (p.Gly162Asp)	AGAP2 (G162D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1328324	NM_207361.6(FREM2):c.2426G>A (p.Arg809Gln)	FREM2 (R809Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328323	NM_001851.6(COL9A1):c.2618G>T (p.Arg873Leu)	COL9A1 (R581L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1328322	NM_001555.5(IGSF1):c.698A>G (p.His233Arg)	IGSF1 (H224R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328320	NM_002016.2(FLG):c.10348T>C (p.Tyr3450His)	CCDST, FLG (Y3450H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328318	NM_139276.3(STAT3):c.1361T>C (p.Leu454Pro)	STAT3 (L422P +4 more)	Single nucleotide variant (missense variant +1 more)	STAT3 gain of function +1 more	GUncertain significance
Select item 1328317	NM_001807.6(CEL):c.2032C>G (p.Pro678Ala)	CEL (P678A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328315	NM_001807.6(CEL):c.2026G>T (p.Ala676Ser)	CEL (A676S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328314	NM_001448.3(GPC4):c.1281A>G (p.Lys427=)	GPC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328313	NM_001009944.3(PKD1):c.5180C>T (p.Pro1727Leu)	PKD1 (P1727L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328310	NM_207122.2(EXT2):c.404T>C (p.Met135Thr)	EXT2 (M135T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328309	NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys)	PKD1 (R1587C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328307	NM_016379.4(VCX3A):c.388G>C (p.Val130Leu)	LOC106029240, VCX3A (V130L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1328306	NM_001369268.1(ACAN):c.2541C>T (p.Pro847=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328305	NM_006044.4(HDAC6):c.176T>C (p.Leu59Pro)	HDAC6 (L59P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1328304	NM_001369268.1(ACAN):c.5460G>A (p.Thr1820=)	ACAN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328301	NM_001369268.1(ACAN):c.2450T>C (p.Leu817Pro)	ACAN (L817P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328300	NM_001197104.2(KMT2A):c.10418G>A (p.Arg3473His)	KMT2A (R3470H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1328299	NM_004366.6(CLCN2):c.673C>T (p.Leu225Phe)	CLCN2 (L181F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328298	NM_080425.4(GNAS):c.821C>T (p.Pro274Leu)	GNAS (P212S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1328297	NM_000208.4(INSR):c.881A>G (p.Lys294Arg)	INSR (K294R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328295	NM_138813.4(ATP8B3):c.280G>A (p.Glu94Lys)	ATP8B3 (E41K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1328292	NM_001393662.1(VCX):c.491T>C (p.Leu164Pro)	VCX (L164P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328290	NM_001009944.3(PKD1):c.3904G>A (p.Ala1302Thr)	PKD1 (A1302T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328289	NM_002016.2(FLG):c.7942T>C (p.Ser2648Pro)	FLG, FLG-AS1 (S2648P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328288	NM_006662.3(SRCAP):c.4912C>G (p.Pro1638Ala)	SRCAP (P1638A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328287	NM_001457.4(FLNB):c.2996G>A (p.Arg999Gln)	FLNB (R999Q)	Single nucleotide variant (missense variant)	Spondylocarpotarsal synostosis syndrome +5 more	GUncertain significance
Select item 1328284	NM_001369268.1(ACAN):c.5931G>T (p.Glu1977Asp)	ACAN (E1977D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328283	NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter)	IFT43 (Q110* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1328282	NM_005635.4(SSX1):c.156G>C (p.Lys52Asn)	SSX1 (K52N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328277	NM_003786.4(ABCC3):c.791A>G (p.Glu264Gly)	ABCC3 (E264G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328276	NM_001388447.1(PABIR3):c.425A>G (p.Lys142Arg)	PABIR3 (K142R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1328274	NM_001011719.2(ARSH):c.1177G>A (p.Gly393Arg)	ARSH (G393R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328273	NM_000051.4(ATM):c.1236-4_1236-3dup	ATM	Duplication (intron variant)	not specified	GBenign/Likely benign
Select item 1328272	NM_001569.4(IRAK1):c.792C>A (p.Ser264=)	IRAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328270	NM_001807.6(CEL):c.1410C>T (p.Pro470=)	CEL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1328268	NM_001288705.3(CSF1R):c.704T>G (p.Val235Gly)	CSF1R, LOC111188154 (V235G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1328267	NM_001270974.2(HYDIN):c.12899G>C (p.Cys4300Ser)	HYDIN (C4300S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328265	NM_004469.5(VEGFD):c.85G>A (p.Val29Met)	PIR-FIGF, VEGFD (V29M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328264	NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type	GLikely benign
Select item 1328263	NM_001369268.1(ACAN):c.4207A>T (p.Thr1403Ser)	ACAN (T1403S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328261	NM_201384.3(PLEC):c.47G>A (p.Arg16Gln)	LOC130001338, PLEC (R16Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1328260	NM_020884.7(MYH7B):c.5372A>C (p.Lys1791Thr)	MYH7B (K1791T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1328259	NM_001385449.1(RTL9):c.1540C>T (p.Pro514Ser)	RTL9 (P514S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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