ClinVar (all) for Orgtrack (Select 505632) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576192	NM_000094.4(COL7A1):c.3746T>C (p.Val1249Ala)	COL7A1 (V1249A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576191	NM_002661.5(PLCG2):c.289A>G (p.Thr97Ala)	PLCG2 (T97A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576190	NM_001197104.2(KMT2A):c.3044del (p.Lys1015fs)	KMT2A (K1015fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2576189	NM_001370466.1(NOD2):c.2036G>A (p.Cys679Tyr)	NOD2 (C679Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576188	NM_000107.3(DDB2):c.456+2T>C	DDB2	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2576187	NM_006214.4(PHYH):c.520dup (p.Leu174fs)	PHYH (L174fs +3 more)	Duplication (frameshift variant +1 more)	Phytanic acid storage disease +1 more	GPathogenic/Likely pathogenic
Select item 2576186	NM_000202.8(IDS):c.536A>G (p.His179Arg)	IDS, LOC106050102 (H179R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576185	NM_015335.5(MED13L):c.311-1G>A	MED13L	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2576184	NM_021814.5(ELOVL5):c.702C>A (p.Phe234Leu)	ELOVL5 (F234L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576183	NM_001377137.1(GBF1):c.73C>T (p.Arg25Ter)	GBF1 (R25*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2576182	NM_001079668.3(NKX2-1):c.319C>T (p.Gln107Ter)	NKX2-1, SFTA3 (Q107* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2576181	NM_014516.4(CNOT3):c.1094C>A (p.Ser365Ter)	CNOT3 (S365*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2576180	NM_001348323.3(TRIP12):c.4290del (p.Pro1429_Tyr1430insTer)	TRIP12	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 2576179	NM_015001.3(SPEN):c.1934A>G (p.Asp645Gly)	SPEN (D645G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576178	NM_001372.4(DNAH9):c.2430T>C (p.Asn810=)	DNAH9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2576177	NM_003718.5(CDK13):c.135_149dup (p.Pro51_Pro52insGlnLeuLeuGlnPro)	CDK13	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2576176	NM_030632.3(ASXL3):c.3039+1G>C	ASXL3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2576175	NM_138615.3(DHX30):c.2359C>T (p.Gln787Ter)	DHX30 (Q748* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2576174	NM_003626.5(PPFIA1):c.691C>A (p.Pro231Thr)	LOC105369373, PPFIA1 (P231T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576173	NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)	KDM5B (Y710* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2576172	NM_020987.5(ANK3):c.4231C>G (p.Arg1411Gly)	ANK3 (R1405G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576171	NM_017635.5(KMT5B):c.1712C>G (p.Pro571Arg)	KMT5B (P331R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576170	NM_001270.4(CHD1):c.666AGA[1] (p.Glu223del)	CHD1 (E223del)	Microsatellite (inframe_deletion +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2576169	NM_001165963.4(SCN1A):c.965-480T>C	SCN1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576168	NM_001134407.3(GRIN2A):c.2357-3704C>G	GRIN2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576167	NM_001134407.3(GRIN2A):c.414+29155A>T	GRIN2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576166	NM_005883.3(APC2):c.4031G>A (p.Arg1344Gln)	APC2 (R1343Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576165	NM_153252.5(BRWD3):c.602A>T (p.Asp201Val)	BRWD3 (D201V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576164	NM_015915.5(ATL1):c.1120-1086T>C	ATL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576163	NM_001393769.1(MED12L):c.184A>G (p.Ile62Val)	MED12L (I62V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576162	NM_005121.3(MED13):c.1758C>G (p.Phe586Leu)	MED13 (F586L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576161	NM_001378120.1(MBD5):c.1855A>G (p.Thr619Ala)	MBD5 (T619A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576160	NM_175914.5(HNF4A):c.263A>G (p.Asn88Ser)	HNF4A (N103S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576159	NM_030650.3(LNPK):c.-98dup	LNPK (G33fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2576158	NM_001042492.3(NF1):c.4724+1102A>C	NF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576157	NM_002578.5(PAK3):c.1408-1G>C	PAK3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2576156	NM_080425.4(GNAS):c.1058C>T (p.Pro353Leu)	GNAS (P353L +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2576155	NM_004859.4(CLTC):c.1873C>T (p.Arg625Cys)	CLTC (R625C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576154	NM_004656.4(BAP1):c.2057-3C>G	BAP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576153	NM_019066.5(MAGEL2):c.3131C>G (p.Ser1044Trp)	MAGEL2 (S1044W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576152	NM_001145358.2(SIN3A):c.1177A>G (p.Thr393Ala)	SIN3A (T393A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576151	NM_021728.4(OTX2):c.145G>A (p.Glu49Lys)	OTX2 (E41K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576150	NM_000090.4(COL3A1):c.2607+1G>T	COL3A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2576149	NM_001130438.3(SPTAN1):c.1879C>T (p.Arg627Ter)	SPTAN1 (R627* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2576148	NM_000890.5(KCNJ5):c.303G>T (p.Trp101Cys)	KCNJ5 (W101C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576147	NM_014727.3(KMT2B):c.4553G>A (p.Arg1518Gln)	KMT2B (R1518Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576146	NM_021096.4(CACNA1I):c.4759A>C (p.Met1587Leu)	CACNA1I (M1552L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576145	NM_001313726.2(ANO3):c.46T>C (p.Phe16Leu)	ANO3 (F16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576144	NM_000424.4(KRT5):c.566T>C (p.Leu189Pro)	KRT5, LOC126861526 (L189P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2576143	NM_001035.3(RYR2):c.11635C>G (p.Leu3879Val)	RYR2 (L3879V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576142	NM_003626.5(PPFIA1):c.3428A>C (p.Lys1143Thr)	CTTN-DT, PPFIA1 (K1143T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576141	NM_001394998.1(TANC2):c.1534C>T (p.Arg512Cys)	TANC2 (R438C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576140	NM_001372076.1(PAX9):c.28C>A (p.Gln10Lys)	PAX9 (Q10K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576139	NM_001046.3(SLC12A2):c.2263+1G>T	SLC12A2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2576138	NM_001042492.3(NF1):c.4333-230A>G	NF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576137	NM_001042492.3(NF1):c.60+29485G>A	NF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576136	NM_001145263.2(NCOA4):c.39T>G (p.Asn13Lys)	NCOA4 (N13K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576135	NM_001382241.1(TNPO2):c.648+3G>A	TNPO2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576134	NM_004113.6(FGF12):c.232G>C (p.Val78Leu)	FGF12 (V140L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576133	NM_001348716.2(KDM6B):c.4738-6C>T	KDM6B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576132	NM_005045.4(RELN):c.3591_3592dup (p.Arg1198fs)	RELN (R1198fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2576131	NM_000093.5(COL5A1):c.2440_2447dup (p.Gly817fs)	COL5A1 (G817fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2576130	NM_005450.6(NOG):c.470T>A (p.Val157Glu)	NOG (V157E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2576129	NM_001365276.2(TNXB):c.2692C>G (p.Leu898Val)	TNXB (L898V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576128	NM_000487.6(ARSA):c.854+82G>A	ARSA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576127	NM_001098175.2(ENTPD1):c.37+15668T>G	ENTPD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576126	NM_003024.3(ITSN1):c.3937_3941dup (p.Met1314fs)	ITSN1 (M1309fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2576125	NM_033004.4(NLRP1):c.836C>T (p.Thr279Ile)	NLRP1 (T279I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576124	NM_000214.3(JAG1):c.3230T>G (p.Leu1077Ter)	JAG1 (L1077*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2576123	NM_005488.3(TOM1):c.500G>C (p.Arg167Thr)	LOC126863133, TOM1 (R134T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2576122	NM_003334.4(UBA1):c.1575+5G>A	UBA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576121	NM_001020658.2(PUM1):c.1025_1039del (p.Ser342_Pro346del)	PUM1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2576120	NM_001020658.2(PUM1):c.1738C>T (p.Arg580Ter)	PUM1 (R580*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2576119	NM_001382567.1(STIM1):c.270+23215T>C	STIM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576118	NM_003791.4(MBTPS1):c.1550C>G (p.Thr517Ser)	MBTPS1 (T517S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576117	NM_003791.4(MBTPS1):c.2567dup (p.Lys857fs)	MBTPS1 (K857fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2576116	NM_194454.3(KRIT1):c.1411+22T>A	KRIT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576115	NM_000186.4(CFH):c.2156G>T (p.Cys719Phe)	CFH (C719F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576114	NM_021023.6(CFHR3):c.844T>G (p.Leu282Val)	CFHR3 (L221V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576113	NM_078480.3(PUF60):c.109C>T (p.Gln37Ter)	PUF60 (Q36* +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 2576112	NM_002336.3(LRP6):c.1927dup (p.Arg643fs)	LRP6 (R492fs +2 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2576111	NM_000138.5(FBN1):c.6370T>C (p.Ser2124Pro)	FBN1 (S2124P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576110	NM_000090.4(COL3A1):c.1923+1G>T	COL3A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2576109	NM_001042492.3(NF1):c.5812+4A>G	NF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576108	NM_020975.6(RET):c.2940-26A>C	RET	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576107	NM_003128.3(SPTBN1):c.511G>C (p.Glu171Gln)	SPTBN1 (E158Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576106	NM_003221.4(TFAP2B):c.595A>T (p.Lys199Ter)	TFAP2B (K199*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2576105	NM_003070.5(SMARCA2):c.4591G>A (p.Glu1531Lys)	SMARCA2 (E1455K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576104	NM_001322934.2(NFKB2):c.514C>T (p.Arg172Trp)	NFKB2 (R172W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576103	NM_001429.4(EP300):c.4540G>C (p.Glu1514Gln)	EP300 (E1488Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2576102	NM_003031.4(SIAH1):c.63G>T (p.Arg21Ser)	LONP2, SIAH1 (R21S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576101	NM_004973.4(JARID2):c.745G>C (p.Ala249Pro)	JARID2 (A249P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576100	NM_020964.3(EPG5):c.4735C>T (p.Gln1579Ter)	EPG5 (Q1579*)	Single nucleotide variant (nonsense)	EPG5-related disorder +1 more	GLikely pathogenic
Select item 2576099	NM_000937.5(POLR2A):c.2573-3C>G	LOC126862481, POLR2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576098	NM_015570.4(AUTS2):c.1999G>A (p.Val667Ile)	AUTS2 (V643I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2576097	NM_001368397.1(FRMPD4):c.3108del (p.Lys1037fs)	FRMPD4 (K1029fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2576096	NM_005744.5(ARIH1):c.383C>G (p.Ala128Gly)	ARIH1 (A128G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576095	NM_000094.4(COL7A1):c.7228G>A (p.Gly2410Ser)	COL7A1 (G2410S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2576094	NM_001368397.1(FRMPD4):c.2503G>A (p.Glu835Lys)	FRMPD4 (E795K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576093	NM_133433.4(NIPBL):c.359-1085A>G	NIPBL	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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