ClinVar (all) for Orgtrack (Select 505775) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062326	NM_004523.4(KIF11):c.1345C>T (p.Gln449Ter)	KIF11 (Q449*)	Single nucleotide variant (nonsense)	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability	GLikely pathogenic
Select item 3062325	NM_000044.6(AR):c.2079C>G (p.Asn693Lys)	AR (N161K +2 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GLikely pathogenic
Select item 3062324	NM_001347721.2(DYRK1A):c.1072del	DYRK1A	Deletion (splice acceptor variant)	DYRK1A-related intellectual disability syndrome	GLikely pathogenic
Select item 3062323	NM_001282717.2(STAG3):c.3550G>T (p.Glu1184Ter)	STAG3 (E1125* +2 more)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 8	GLikely pathogenic
Select item 3062322	NM_021005.4(NR2F2):c.684del (p.Asn229fs)	NR2F2 (N229fs +2 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 4	GLikely pathogenic
Select item 3062321	NM_013275.6(ANKRD11):c.2161dup (p.Ile721fs)	ANKRD11 (I721fs)	Duplication (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3062320	NM_005157.6(ABL1):c.1088A>C (p.Asp363Ala)	ABL1 (D363A +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GLikely pathogenic
Select item 3062319	NM_003477.3(PDHX):c.70C>T (p.Arg24Ter)	LOC130005549, PDHX (R24*)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 3062318	NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)	L1CAM (W1073* +1 more)	Single nucleotide variant (nonsense)	MASA syndrome +1 more	GLikely pathogenic
Select item 3062317	NM_030665.4(RAI1):c.367dup (p.Ala123fs)	RAI1 (A123fs)	Duplication (frameshift variant)	Smith-Magenis syndrome	GLikely pathogenic
Select item 3062316	NM_005120.3(MED12):c.6175C>T (p.Gln2059Ter)	MED12 (Q2059*)	Single nucleotide variant (nonsense)	Cholestasis-pigmentary retinopathy-cleft palate syndrome	GLikely pathogenic
Select item 3062315	NM_138376.3(TTC5):c.79C>T (p.Arg27Ter)	TTC5 (R27*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GLikely pathogenic
Select item 3062314	NM_000214.3(JAG1):c.387+1G>C	JAG1	Single nucleotide variant (splice donor variant)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 3062313	NM_004817.4(TJP2):c.2363A>T (p.His788Leu)	TJP2 (H763L +4 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 3062312	NM_015910.7(WDPCP):c.2050_2053del (p.Gln684fs)	WDPCP (Q525fs +2 more)	Deletion (frameshift variant +1 more)	Heart defect - tongue hamartoma - polysyndactyly syndrome	GLikely pathogenic
Select item 3062311	NM_000168.6(GLI3):c.2876_2880dup (p.Gly961fs)	GLI3 (G961fs)	Duplication (frameshift variant)	Polysyndactyly 4 +3 more	GLikely pathogenic
Select item 3062310	NM_000297.4(PKD2):c.2351_2354del (p.Lys784fs)	PKD2 (K784fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 3062309	NM_001367721.1(CASK):c.173-1G>A	CASK	Single nucleotide variant (splice acceptor variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 3062308	NM_024408.4(NOTCH2):c.6139del (p.Arg2047fs)	NOTCH2 (R2047fs)	Deletion (frameshift variant)	Alagille syndrome due to a NOTCH2 point mutation +1 more	GLikely pathogenic
Select item 3062307	NM_000548.5(TSC2):c.875_876insTCGCGCCCCTGCT (p.Gly294fs)	TSC2 (G140fs +8 more)	Microsatellite (frameshift variant +2 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 3062306	NM_017951.5(SMPD4):c.202dup (p.Leu68fs)	SMPD4 (L107fs +1 more)	Duplication (frameshift variant +2 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 3062305	NM_017951.5(SMPD4):c.2242_2260del (p.Ser748fs)	SMPD4 (S685fs +2 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GLikely pathogenic
Select item 3062304	NM_001122630.2(CDKN1C):c.19del (p.Arg7fs)	CDKN1C (R18fs +1 more)	Deletion (frameshift variant)	Beckwith-Wiedemann syndrome	GLikely pathogenic
Select item 3062303	NM_000257.4(MYH7):c.1370T>A (p.Ile457Lys)	MYH7 (I457K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1	GLikely pathogenic
Select item 3062302	NM_000132.4(F8):c.476T>A (p.Val159Asp)	F8 (V159D)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3062301	NM_003126.4(SPTA1):c.5581del (p.His1861fs)	SPTA1 (H1861fs)	Deletion (frameshift variant)	Pyropoikilocytosis, hereditary +1 more	GLikely pathogenic
Select item 3062300	NM_003126.4(SPTA1):c.6331del (p.Ala2111fs)	SPTA1 (A2111fs)	Deletion (frameshift variant)	Pyropoikilocytosis, hereditary +1 more	GLikely pathogenic
Select item 3062299	NM_025074.7(FRAS1):c.10540+3A>G	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1	GLikely pathogenic
Select item 3062298	NM_000181.4(GUSB):c.1070G>T (p.Arg357Leu)	GUSB (R138L +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 3062297	NM_000181.4(GUSB):c.1800_1801del (p.Arg600fs)	GUSB (R381fs +3 more)	Microsatellite (frameshift variant +1 more)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 3062296	NM_001077653.2(TBX20):c.654+1G>C	TBX20	Single nucleotide variant (splice donor variant)	Atrial septal defect 4	GLikely pathogenic
Select item 3062295	NM_182925.5(FLT4):c.2922_2941del (p.Gly975fs)	FLT4 (G975fs)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 7	GLikely pathogenic
Select item 3062294	NM_004608.4(TBX6):c.1309T>C (p.Ter437Arg)	TBX6	Single nucleotide variant (stop lost)	Spondylocostal dysostosis 5	GLikely pathogenic
Select item 3062293	NM_014795.4(ZEB2):c.564del (p.Pro189fs)	LOC111721705, ZEB2 (P165fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 3062292	NM_000368.5(TSC1):c.2271_2280del (p.Glu757fs)	TSC1 (E406fs +10 more)	Deletion (frameshift variant +1 more)	Tuberous sclerosis 1	GLikely pathogenic
Select item 3062291	NM_000548.5(TSC2):c.2724dup (p.Val909fs)	TSC2 (V375fs +10 more)	Duplication (frameshift variant +1 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 3062290	NM_015665.6(AAAS):c.301G>T (p.Glu101Ter)	AAAS (E101*)	Single nucleotide variant (nonsense)	Glucocorticoid deficiency with achalasia	GLikely pathogenic
Select item 3062289	NM_015100.4(POGZ):c.2771dup (p.Gln925fs)	POGZ (Q830fs +5 more)	Duplication (frameshift variant)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome	GLikely pathogenic
Select item 3062288	NM_002480.3(PPP1R12A):c.508C>T (p.Arg170Ter)	PPP1R12A (R170* +1 more)	Single nucleotide variant (nonsense)	Genitourinary and/or brain malformation syndrome	GLikely pathogenic
Select item 3062287	NM_001372044.2:c.288+1G>A	SHANK3	Single nucleotide variant	Phelan-McDermid syndrome	GLikely pathogenic
Select item 3062286	NM_006306.4(SMC1A):c.1832dup (p.Tyr611Ter)	SMC1A (Y589* +1 more)	Duplication (nonsense)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely pathogenic
Select item 3062285	NM_001355436.2(SPTB):c.545G>A (p.Trp182Ter)	SPTB (W182*)	Single nucleotide variant (nonsense)	Hereditary spherocytosis type 2	GLikely pathogenic
Select item 3062284	NM_007055.4(POLR3A):c.2616+1G>A	POLR3A	Single nucleotide variant (splice donor variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GLikely pathogenic
Select item 3062283	NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile)	SCN5A (F1419I +4 more)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome 1 +1 more	GLikely pathogenic
Select item 3062282	NM_001127898.4(CLCN5):c.746G>T (p.Gly249Val)	CLCN5 (G179V +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GLikely pathogenic
Select item 3062281	NM_000044.6(AR):c.1873A>G (p.Met625Val)	AR (M625V +2 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome	GLikely pathogenic
Select item 3062280	NM_175914.5(HNF4A):c.49+1G>T	HNF4A	Single nucleotide variant (splice donor variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 3062279	NM_032436.4(CHAMP1):c.2027dup (p.Glu677fs)	CHAMP1 (E677fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 40	GLikely pathogenic
Select item 3062278	NM_078480.3(PUF60):c.207+1G>A	PUF60	Single nucleotide variant (splice donor variant)	8q24.3 microdeletion syndrome	GLikely pathogenic
Select item 3062277	NM_031263.4(HNRNPK):c.511C>T (p.Arg171Ter)	HNRNPK, HNRNPK-AS1 (R147* +1 more)	Single nucleotide variant (nonsense)	Au-Kline syndrome	GLikely pathogenic
Select item 3062276	NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)	ANKRD11 (K2423*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 3062275	NM_000197.2(HSD17B3):c.111_118del (p.Lys37fs)	HSD17B3, SLC35D2-HSD17B3 (K37fs)	Deletion (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 3062274	NM_025000.4(DCAF17):c.1171dup (p.Glu391fs)	DCAF17 (E391fs)	Duplication (frameshift variant +2 more)	Woodhouse-Sakati syndrome	GLikely pathogenic
Select item 3062273	NM_022455.5(NSD1):c.4139_4140dup (p.Val1381fs)	NSD1 (V1090fs +3 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3062272	NM_000094.4(COL7A1):c.4782+1G>A	COL7A1	Single nucleotide variant (splice donor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3062271	NM_005378.6(MYCN):c.1037del (p.Pro346fs)	MYCN (P135fs +1 more)	Deletion (frameshift variant +1 more)	Feingold syndrome type 1	GLikely pathogenic
Select item 3062270	NM_207037.2(TCF12):c.655del (p.Ser219fs)	TCF12 (S161fs +4 more)	Deletion (frameshift variant +1 more)	TCF12-related craniosynostosis	GLikely pathogenic
Select item 3062269	NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter)	COL1A1 (E1401*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta with normal sclerae, dominant form +3 more	GLikely pathogenic
Select item 3062268	NM_001037343.2(CDKL5):c.2787del (p.Glu930fs)	CDKL5, RS1 (E930fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 2	GLikely pathogenic
Select item 3062267	NM_001291867.2(NHS):c.1108+1G>A	NHS	Single nucleotide variant (splice donor variant)	Nance-Horan syndrome +1 more	GLikely pathogenic
Select item 3062266	NM_000094.4(COL7A1):c.4350_4351del (p.Glu1451fs)	COL7A1 (E1451fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3062265	NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs)	L1CAM (G945fs +1 more)	Deletion (frameshift variant)	MASA syndrome +1 more	GLikely pathogenic
Select item 3062264	NM_000094.4(COL7A1):c.5053-5_5055dup	COL7A1	Duplication (splice acceptor variant)	Recessive dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3062263	NM_004247.4(EFTUD2):c.2126G>A (p.Trp709Ter)	EFTUD2 (W674* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3062262	NM_147191.1(MMP21):c.614G>A (p.Trp205Ter)	MMP21 (W205*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 7, autosomal	GLikely pathogenic
Select item 3062261	NM_198173.3(GRHL3):c.1115del (p.Leu372fs)	GRHL3 (L326fs +2 more)	Deletion (frameshift variant)	Van der Woude syndrome 2	GLikely pathogenic
Select item 3062260	NM_001372044.2(SHANK3):c.3286del (p.Glu1096fs)	SHANK3 (E1096fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 3062259	NM_016032.4(ZDHHC9):c.167+1G>A	ZDHHC9	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability Raymond type	GLikely pathogenic
Select item 3062258	NM_000530.8(MPZ):c.562del (p.Ala188fs)	MPZ (A188fs)	Deletion (frameshift variant)	Dejerine-Sottas disease	GLikely pathogenic
Select item 3062257	NM_000308.4(CTSA):c.948+1G>A	CTSA	Single nucleotide variant (splice donor variant)	Combined deficiency of sialidase AND beta galactosidase	GLikely pathogenic
Select item 3062256	NM_018671.5(UNC45A):c.213+1G>C	UNC45A	Single nucleotide variant (splice donor variant)	Osteootohepatoenteric syndrome	GLikely pathogenic
Select item 3062255	NM_005094.4(SLC27A4):c.839A>T (p.Asp280Val)	SLC27A4 (D280V)	Single nucleotide variant (missense variant)	Ichthyosis prematurity syndrome	GLikely pathogenic
Select item 3062254	NM_000044.6(AR):c.35del (p.Pro12fs)	AR (P12fs)	Deletion (frameshift variant +1 more)	Androgen resistance syndrome	GLikely pathogenic
Select item 3062253	NM_001127392.3(MYRF):c.1318_1319delinsA (p.Ala440fs)	MYRF (A431fs +1 more)	Indel (frameshift variant)	Cardiac-urogenital syndrome	GLikely pathogenic
Select item 3062252	NM_017780.4(CHD7):c.7504dup (p.Leu2502fs)	CHD7 (L2502fs)	Duplication (frameshift variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 3062251	NM_021101.5(CLDN1):c.19C>T (p.Gln7Ter)	CLDN1, CLDN16 (Q7*)	Single nucleotide variant (nonsense +1 more)	Neonatal ichthyosis-sclerosing cholangitis syndrome	GLikely pathogenic
Select item 3062250	NM_005585.5(SMAD6):c.1440dup (p.Ile481fs)	SMAD6 (I481fs)	Duplication (frameshift variant +1 more)	Aortic valve disease 2	GLikely pathogenic
Select item 3062249	NM_054012.4(ASS1):c.175-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia type I	GLikely pathogenic
Select item 3062248	NM_000451.4(SHOX):c.419del (p.His140fs)	LOC107652445, SHOX (H140fs)	Deletion (frameshift variant)	Leri-Weill dyschondrosteosis +1 more	GLikely pathogenic
Select item 3062247	NM_000168.6(GLI3):c.1325_1328dup (p.Ser445fs)	GLI3 (S445fs)	Duplication (frameshift variant)	Polysyndactyly 4 +3 more	GLikely pathogenic
Select item 3062246	NM_000548.5(TSC2):c.1090_1099del (p.Ile364fs)	TSC2 (I164fs +8 more)	Deletion (frameshift variant +2 more)	Tuberous sclerosis 2	GLikely pathogenic
Select item 3062245	NM_001277115.2(DNAH11):c.11615G>A (p.Trp3872Ter)	DNAH11 (W3872* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 3062244	NM_001356.5(DDX3X):c.965C>T (p.Ala322Val)	DDX3X (A136V +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 3062243	NM_013275.6(ANKRD11):c.2499_2502del (p.Ser834fs)	ANKRD11 (S834fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3062242	NM_000264.5(PTCH1):c.3358del (p.Glu1120fs)	PTCH1 (E1054fs +4 more)	Deletion (frameshift variant +1 more)	Basal cell nevus syndrome 1	GLikely pathogenic
Select item 3062241	NM_000044.6(AR):c.2449+1G>A	AR	Single nucleotide variant (splice donor variant)	Androgen resistance syndrome	GLikely pathogenic
Select item 3062240	NM_004380.3(CREBBP):c.3270dup (p.Arg1091fs)	CREBBP (R1053fs +1 more)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 3062239	NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)	CC2D2A (Y223fs +1 more)	Deletion (frameshift variant)	Joubert syndrome 9	GLikely pathogenic
Select item 3062238	NM_001271.4(CHD2):c.1882_1883del (p.Leu628fs)	CHD2 (L628fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 3062237	NM_004247.4(EFTUD2):c.719_720del (p.Glu240fs)	EFTUD2 (E205fs +2 more)	Microsatellite (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 3062236	NM_000531.6(OTC):c.502C>T (p.His168Tyr)	OTC (H168Y)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 3062235	NM_017780.4(CHD7):c.8509G>T (p.Glu2837Ter)	CHD7 (E2837* +1 more)	Single nucleotide variant (nonsense)	CHARGE syndrome	GLikely pathogenic
Select item 3062234	NM_021005.4(NR2F2):c.1164dup (p.Lys389Ter)	NR2F2 (K236* +2 more)	Duplication (nonsense)	46,xx sex reversal 5	GLikely pathogenic
Select item 3062233	NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu)	MED13L (P869L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 3062232	NM_000094.4(COL7A1):c.6209G>T (p.Gly2070Val)	COL7A1 (G2070V)	Single nucleotide variant (missense variant)	Generalized dominant dystrophic epidermolysis bullosa	GLikely pathogenic
Select item 3062231	NM_000214.3(JAG1):c.1211G>A (p.Trp404Ter)	JAG1 (W404*)	Single nucleotide variant (nonsense)	Alagille syndrome due to a JAG1 point mutation	GLikely pathogenic
Select item 2765862	NM_000424.4(KRT5):c.1398G>T (p.Glu466Asp)	KRT5, LOC126861525 (E466D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2750485	NM_005094.4(SLC27A4):c.1628-1G>A	SLC27A4	Single nucleotide variant (splice acceptor variant)	Ichthyosis prematurity syndrome +1 more	GLikely pathogenic
Select item 2707677	NM_000094.4(COL7A1):c.4667del (p.Lys1556fs)	COL7A1 (K1556fs)	Deletion (frameshift variant)	Recessive dystrophic epidermolysis bullosa +1 more	GPathogenic/Likely pathogenic
Select item 2681776	NM_024426.6(WT1):c.1384C>T (p.Gln462Ter)	WT1 (Q208* +11 more)	Single nucleotide variant (nonsense +2 more)	Drash syndrome +3 more	GLikely pathogenic

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