ClinVar (all) for Orgtrack (Select 1019) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338627	NM_000384.3(APOB):c.13025C>T (p.Pro4342Leu)	APOB (P4342L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338626	NM_198880.3(QRICH1):c.625C>T (p.Gln209Ter)	QRICH1 (Q209*)	Single nucleotide variant (nonsense)	Ververi-Brady syndrome	GLikely pathogenic
Select item 3338625	NM_000489.6(ATRX):c.2479A>G (p.Ser827Gly)	ATRX (S789G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338624	NM_001080421.3(UNC13A):c.1930C>A (p.Leu644Ile)	UNC13A (L642I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338623	NM_022167.4(XYLT2):c.1636G>T (p.Gly546Cys)	XYLT2 (G546C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338622	NM_014996.4(PLCH1):c.2560G>C (p.Glu854Gln)	PLCH1 (E842Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338621	NM_022167.4(XYLT2):c.1336C>T (p.Leu446=)	XYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3338620	NM_018896.5(CACNA1G):c.2902C>T (p.Gln968Ter)	CACNA1G (Q968*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3338619	NM_138615.3(DHX30):c.2291C>T (p.Ser764Phe)	DHX30 (S725F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338618	NM_006346.4(PIBF1):c.2076_2100del (p.Val693fs)	PIBF1 (V693fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 33	GLikely pathogenic
Select item 3338617	NM_001130438.3(SPTAN1):c.3034C>T (p.Arg1012Cys)	SPTAN1 (R1012C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338616	NM_006922.4(SCN3A):c.1844A>G (p.His615Arg)	SCN3A (H615R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338615	NM_005559.4(LAMA1):c.653T>C (p.Phe218Ser)	LAMA1 (F218S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338614	NM_001081550.2(THOC2):c.981G>C (p.Glu327Asp)	THOC2 (E327D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338613	NM_002971.6(SATB1):c.1353C>A (p.Ser451Arg)	SATB1 (S379R +1 more)	Single nucleotide variant (missense variant)	SATB1-related disorder	GLikely pathogenic
Select item 3338612	NM_003128.3(SPTBN1):c.4582C>T (p.Gln1528Ter)	SPTBN1 (Q1515* +1 more)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 3338611	NM_001429.4(EP300):c.94+4815C>T	EP300	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338610	NM_000516.7(GNAS):c.322G>C (p.Ala108Pro)	GNAS (A108P +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338609	NM_017802.4(DNAAF5):c.250T>C (p.Cys84Arg)	LOC129997730, DNAAF5 +1 more (C84R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3338608	NM_015015.3(KDM4B):c.3121A>T (p.Ser1041Cys)	KDM4B (S1041C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338607	NM_024298.5(MBOAT7):c.493+1G>T	MBOAT7	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 3338606	NM_003458.4(BSN):c.1602del (p.Thr535fs)	BSN (T535fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3338605	NM_004380.3(CREBBP):c.799-18644G>T	CREBBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338604	NM_001375380.1(EBF3):c.1391C>T (p.Thr464Ile)	EBF3 (T455I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338603	NM_003482.4(KMT2D):c.382C>T (p.His128Tyr)	KMT2D (H128Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338602	NM_001378120.1(MBD5):c.1744G>A (p.Ala582Thr)	MBD5 (A582T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338601	NM_018263.6(ASXL2):c.2425A>G (p.Thr809Ala)	ASXL2 (T549A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338600	NM_019842.4(KCNQ5):c.858G>T (p.Leu286=)	KCNQ5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3338599	NM_020988.3(GNAO1):c.128A>T (p.Glu43Val)	GNAO1 (E43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338598	NM_001326342.2(CELF2):c.938_939del (p.Ser313fs)	CELF2 (S195fs +7 more)	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy 97	GLikely pathogenic
Select item 3338597	NM_182931.3(KMT2E):c.5375_5388del (p.Gly1792fs)	KMT2E (G1750fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3338596	NM_001009944.3(PKD1):c.12410T>C (p.Leu4137Pro)	PKD1 (L4136P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338595	NM_001099402.2(CCNK):c.950C>G (p.Ala317Gly)	CCDC85C, CCNK (A317G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3338594	NM_000133.4(F9):c.61G>A (p.Gly21Arg)	F9 (G21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338593	NM_020828.2(ZFP28):c.74C>G (p.Pro25Arg)	ZFP28 (P25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338592	NM_001287491.2(TET3):c.2543C>T (p.Ser848Phe)	TET3 (S755F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338591	NM_015080.4(NRXN2):c.1915C>G (p.Leu639Val)	NRXN2 (L608V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338590	NM_020791.4(TAOK1):c.1787A>C (p.Gln596Pro)	TAOK1 (Q596P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338589	NM_000274.4(OAT):c.648+2T>C	OAT	Single nucleotide variant (splice donor variant)	Ornithine aminotransferase deficiency	GPathogenic
Select item 3338588	NM_016333.4(SRRM2):c.1032+5G>T	SRRM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338587	NM_030632.3(ASXL3):c.1558G>A (p.Glu520Lys)	ASXL3 (E520K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338586	NM_001009944.3(PKD1):c.2285G>A (p.Trp762Ter)	PKD1 (W762*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3338585	NM_183337.3(RGS11):c.407G>T (p.Gly136Val)	RGS11 (G115V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338584	NM_006662.3(SRCAP):c.2384A>G (p.His795Arg)	SRCAP (H795R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338583	NM_001370100.5(ZMYND11):c.573G>C (p.Leu191=)	ZMYND11	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 3338582	NM_003036.4(SKI):c.1492T>C (p.Ser498Pro)	SKI (S498P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338581	NM_014023.4(WDR37):c.1474C>T (p.Gln492Ter)	WDR37 (Q492*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3338580	NM_004789.4(LHX2):c.460G>C (p.Asp154His)	LHX2 (D154H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338579	NM_001354712.2(THRB):c.1347dup (p.Leu450fs)	THRB (L393fs +2 more)	Duplication (frameshift variant)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely pathogenic
Select item 3338578	NM_006521.6(TFE3):c.572T>C (p.Leu191Pro)	TFE3 (L191P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies	GPathogenic
Select item 3338577	NM_182706.5(SCRIB):c.2678T>G (p.Phe893Cys)	SCRIB (F893C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338576	NM_181552.4(CUX1):c.1042C>T (p.Gln348Ter)	CUX1 (Q313* +5 more)	Single nucleotide variant (nonsense)	Global developmental delay with or without impaired intellectual development	GLikely pathogenic
Select item 3338575	NM_004187.5(KDM5C):c.1011C>G (p.Asp337Glu)	KDM5C (D270E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338574	NM_030971.6(SFXN3):c.821G>A (p.Cys274Tyr)	SFXN3 (C183Y +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338573	NM_144969.3(ZDHHC15):c.754G>A (p.Val252Met)	ZDHHC15 (V243M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338572	NM_001111125.3(IQSEC2):c.2413G>T (p.Glu805Ter)	IQSEC2 (E600* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 3338571	NM_001378120.1(MBD5):c.1580C>G (p.Ala527Gly)	MBD5 (A527G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338570	NM_001273.5(CHD4):c.1984C>T (p.Gln662Ter)	CHD4 (Q649* +2 more)	Single nucleotide variant (nonsense)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 3338569	NM_018392.5(ZGRF1):c.610C>G (p.Pro204Ala)	ZGRF1 (P204A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338568	NM_018117.12(WDR11):c.3141dup (p.Ser1048fs)	WDR11 (S1048fs)	Duplication (frameshift variant)	WDR11-related disorder	GLikely pathogenic
Select item 3338567	NM_001110556.2(FLNA):c.3850G>T (p.Ala1284Ser)	FLNA (A1284S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338566	NM_006766.5(KAT6A):c.3898dup (p.Glu1300fs)	KAT6A (E1300fs)	Duplication (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic
Select item 3338565	NM_006521.6(TFE3):c.515T>G (p.Val172Gly)	TFE3 (V172G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338564	NM_001287491.2(TET3):c.3004C>T (p.Arg1002Cys)	TET3 (R1002C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338563	NM_001039111.3(TRIM71):c.2251C>G (p.Arg751Gly)	TRIM71 (R751G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338562	NM_130797.4(DPP6):c.1916A>T (p.Glu639Val)	DPP6 (E532V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338561	NM_031407.7(HUWE1):c.8495-10T>G	HUWE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338560	NM_001393769.1(MED12L):c.1946del (p.Lys649fs)	MED12L (K649fs)	Deletion (frameshift variant)	Nizon-Isidor syndrome	GLikely pathogenic
Select item 3338559	NM_001350175.2(ATXN7L2):c.2042G>T (p.Gly681Val)	ATXN7L2 (G623V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338558	NM_001723.7(DST):c.3586dup (p.Tyr1196fs)	DST (Y1196fs)	Duplication (frameshift variant +1 more)	DST-related disorder	GLikely pathogenic
Select item 3338557	NM_003106.4(SOX2):c.758del (p.Pro253fs)	SOX2, SOX2-OT (P253fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely pathogenic
Select item 3338556	NM_138775.3(ALKBH8):c.878+3A>G	ALKBH8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338555	NM_001005273.3(CHD3):c.571del (p.Ala191fs)	CHD3 (A191fs +1 more)	Deletion (frameshift variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 3338554	NM_001205293.3(CACNA1E):c.1751+43T>A	CACNA1E	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338553	NM_001195.5(BFSP1):c.1123G>T (p.Glu375Ter)	BFSP1 (E236* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3338552	NM_013254.4(TBK1):c.2049A>G (p.Leu683=)	TBK1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3338551	NM_012156.2(EPB41L1):c.1136C>T (p.Pro379Leu)	EPB41L1 (P317L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338550	NM_005458.8(GABBR2):c.1047G>A (p.Val349=)	GABBR2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3338549	NM_004446.3(EPRS1):c.667_675del (p.His223_Gln225del)	EPRS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3338548	NM_004606.5(TAF1):c.1886T>A (p.Leu629His)	TAF1 (L608H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338547	NM_001394998.1(TANC2):c.3589+31del	LOC105371856, TANC2	Deletion (intron variant)	not provided	GUncertain significance
Select item 3338546	NM_015100.4(POGZ):c.3831T>G (p.His1277Gln)	POGZ (H1182Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338545	NM_138477.4(CDAN1):c.3338T>C (p.Leu1113Pro)	CDAN1 (L1113P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338544	NM_005994.4(TBX2):c.2083G>A (p.Val695Met)	TBX2 (V695M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338543	NM_020829.4(RIC1):c.845G>T (p.Ser282Ile)	RIC1 (S282I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338542	NM_020829.4(RIC1):c.4184dup (p.Asn1395fs)	RIC1 (N1358fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3338541	NM_001395159.1(UNC79):c.5068C>T (p.Pro1690Ser)	UNC79 (P1441S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338540	NM_001367721.1(CASK):c.743G>T (p.Ser248Ile)	CASK (S248I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338539	NM_020717.5(SHROOM4):c.775C>T (p.Gln259Ter)	SHROOM4 (Q259*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3338538	NM_005445.4(SMC3):c.430-820A>T	SMC3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338537	NM_133433.4(NIPBL):c.359-1513G>A	NIPBL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338536	NM_006265.3(RAD21):c.1161+325A>G	RAD21	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338535	NM_014491.4(FOXP2):c.1234C>T (p.Arg412Ter)	FOXP2 (R411* +3 more)	Single nucleotide variant (nonsense +1 more)	Childhood apraxia of speech	GLikely pathogenic
Select item 3338534	NM_020765.3(UBR4):c.6459-1G>A	UBR4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3338533	NM_020902.2(CAMSAP3):c.3089G>T (p.Arg1030Leu)	CAMSAP3 (R1030L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338532	NM_001256071.3(RNF213):c.1763G>A (p.Arg588Lys)	RNF213 (R588K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338531	NM_001256071.3(RNF213):c.1971G>T (p.Glu657Asp)	RNF213 (E657D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338530	NM_013275.6(ANKRD11):c.2512C>G (p.Arg838Gly)	ANKRD11 (R838G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338529	NM_153026.3(PRICKLE1):c.1639+462C>G	PRICKLE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3338528	NM_152716.3(PATL1):c.1553_1555del (p.Lys518del)	PATL1 (K518del)	Deletion (inframe_deletion)	not provided	GUncertain significance

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