ClinVar (all) for Orgtrack (Select 500068) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683796	NM_000313.4(PROS1):c.849+1G>C	PROS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2683795	NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)	TAFAZZIN	Single nucleotide variant (synonymous variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GUncertain significance
Select item 2683794	NM_006563.3(KLF1):c.-149dup	KLF1, LOC117125592	Duplication	not provided	GUncertain significance
Select item 2683793	NM_001113491.2(SEPTIN9):c.422A>G (p.Lys141Arg)	SEPTIN9 (K122R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683792	NM_005548.3(KARS1):c.1271A>G (p.Asp424Gly)	KARS1 (D268G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683791	NM_015202.5(KATNIP):c.3898C>T (p.Arg1300Cys)	KATNIP (R1300C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683790	NM_138477.4(CDAN1):c.943+26_943+41delinsC	CDAN1	Indel (intron variant)	not provided	GUncertain significance
Select item 2683789	NM_001321759.2(CDIN1):c.307A>T (p.Ile103Leu)	CDIN1 (I103L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683788	NM_000053.4(ATP7B):c.-210A>T	ATP7B	Single nucleotide variant (genic upstream transcript variant +2 more)	not provided	GUncertain significance
Select item 2683787	NM_001370595.2(COA8):c.184_187del (p.Tyr62fs)	COA8 (Y62fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2683786	NM_001126049.2(KLLN):c.-832G>C	KLLN, PTEN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2683785	NM_002047.4(GARS1):c.656A>C (p.Lys219Thr)	GARS1 (K165T +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 2683784	NM_001127453.2(GSDME):c.1007G>A (p.Ser336Asn)	GSDME (S172N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683783	NM_032581.4(HYCC1):c.709A>G (p.Met237Val)	HYCC1 (M237V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683782	NM_006929.5(SKIC2):c.126+4A>G	SKIC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2683781	NM_000038.6(APC):c.-30467_-30466delinsC	APC, LOC129994371	Indel	not provided	GUncertain significance
Select item 2683780	NR_001566.1(TERC):n.61A>G	LOC110806306, TERC	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GUncertain significance
Select item 2683779	NM_001072.4(UGT1A6):c.862-6787_862-6786insGT	UGT1A, UGT1A1 +8 more	Insertion (intron variant)	not provided	GUncertain significance
Select item 2683778	NM_000157.4(GBA1):c.685G>A (p.Ala229Thr)	GBA1, LOC106627981 (A142T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683777	NM_000157.4(GBA1):c.905A>T (p.Asp302Val)	GBA1, LOC106627981 (D215V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683776	NM_003680.4(YARS1):c.1571G>A (p.Gly524Glu)	YARS1 (G524E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683723	NM_001368809.2(AMPD2):c.694G>A (p.Gly232Ser)	AMPD2 (G168S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683722	NM_001854.4(COL11A1):c.361G>A (p.Glu121Lys)	COL11A1 (E121K)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2683721	NM_003672.4(CDC14A):c.1436C>A (p.Ser479Tyr)	CDC14A (S186Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683720	NM_000642.3(AGL):c.4114T>G (p.Trp1372Gly)	AGL (W1246G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683719	NM_000642.3(AGL):c.959-18delinsATCTTTTCTTTCTTTTAGAAAATAGTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCA	AGL	Indel (intron variant)	not provided	GUncertain significance
Select item 2683718	NM_001256864.2(DNAJC6):c.673C>T (p.Arg225Trp)	DNAJC6 (R155W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683717	NM_001367561.1(DOCK7):c.4688G>A (p.Ser1563Asn)	DOCK7 (S1523N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683716	NM_000098.3(CPT2):c.1604G>A (p.Cys535Tyr)	CPT2 (C535Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683715	NM_017739.4(POMGNT1):c.1248T>A (p.Asp416Glu)	POMGNT1, TSPAN1 (D273E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683714	NM_000374.5(UROD):c.919C>T (p.Pro307Ser)	UROD (P307S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683713	NM_000374.5(UROD):c.304C>T (p.Pro102Ser)	UROD (P102S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683712	NM_001365999.1(SZT2):c.6121G>A (p.Val2041Met)	SZT2 (V1984M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683711	NM_006516.4(SLC2A1):c.794C>T (p.Ser265Phe)	SLC2A1 (S265F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683710	NM_006516.4(SLC2A1):c.1338C>T (p.Ile446=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2683709	NM_000760.4(CSF3R):c.2309G>A (p.Cys770Tyr)	CSF3R (C770Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683708	NM_001376013.1(EPB41):c.1002G>T (p.Gln334His)	EPB41 (Q125H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683707	NM_001376013.1(EPB41):c.567del (p.Gln190fs)	EPB41 (Q190fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2683706	NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)	EPB41 (G58R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2683705	NM_001376013.1(EPB41):c.34G>A (p.Glu12Lys)	EPB41 (E12K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683704	NM_017837.4(PIGV):c.1425C>G (p.Phe475Leu)	PIGV (F101L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683703	NM_001135254.2(PAX7):c.1375G>A (p.Gly459Ser)	PAX7 (G457S +1 more)	Single nucleotide variant (missense variant)	PAX7-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2683702	NM_022089.4(ATP13A2):c.1345C>G (p.Arg449Gly)	ATP13A2 (R444G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683701	NM_007272.3(CTRC):c.661A>T (p.Asn221Tyr)	CTRC (N221Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683700	NM_015378.4(VPS13D):c.9290G>A (p.Arg3097Gln)	VPS13D (R3072Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683699	NM_015378.4(VPS13D):c.6728A>C (p.Lys2243Thr)	VPS13D (K2243T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683698	NM_015378.4(VPS13D):c.6466G>A (p.Val2156Ile)	VPS13D (V2156I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683697	NM_015378.4(VPS13D):c.6061C>T (p.Arg2021Trp)	VPS13D (R2021W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683696	NM_015378.4(VPS13D):c.3392C>T (p.Pro1131Leu)	VPS13D (P1131L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683695	NM_014874.4(MFN2):c.1904C>T (p.Ala635Val)	MFN2 (A635V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683694	NM_000302.4(PLOD1):c.1962G>A (p.Met654Ile)	PLOD1 (M654I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683693	NM_000302.4(PLOD1):c.1109G>A (p.Arg370Gln)	PLOD1 (R370Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683692	NM_004958.4(MTOR):c.1226A>T (p.Asp409Val)	MTOR (D409V)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2683691	NM_015102.5(NPHP4):c.239A>G (p.Lys80Arg)	NPHP4 (K80R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2683690	NM_015102.5(NPHP4):c.3292G>T (p.Ala1098Ser)	NPHP4 (A1098S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683689	NM_144997.7(FLCN):c.753G>A (p.Trp251Ter)	FLCN (W251* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2683688	NM_022834.5(VWA1):c.205G>A (p.Gly69Arg)	VWA1 (G69R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2683687	NM_198576.4(AGRN):c.5345C>T (p.Ser1782Phe)	AGRN (S1681F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683686	NM_198576.4(AGRN):c.1220C>T (p.Ser407Phe)	AGRN (S302F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683685	NM_001289104.2(PRKCSH):c.1285G>T (p.Glu429Ter)	PRKCSH (E419* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2683684	NM_000551.4(VHL):c.351G>A (p.Trp117Ter)	LOC107303340, VHL (W117*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 2683683	NM_000064.4(C3):c.600-1G>T	C3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2683682	NM_001972.4(ELANE):c.457G>C (p.Ala153Pro)	ELANE (A153P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2683681	NM_003647.3(DGKE):c.1057del (p.Gln353fs)	DGKE (Q353fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2683680	NM_000088.4(COL1A1):c.696+1G>C	COL1A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2683679	NM_000088.4(COL1A1):c.1219G>A (p.Gly407Ser)	COL1A1 (G407S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2683678	NM_144997.7(FLCN):c.1150_1160del (p.Val384fs)	FLCN (V384fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2683677	NM_001009944.3(PKD1):c.416G>A (p.Trp139Ter)	PKD1 (W139*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2683676	NM_001009944.3(PKD1):c.604G>T (p.Glu202Ter)	PKD1 (E202*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2683675	NM_001009944.3(PKD1):c.4510del (p.Asp1504fs)	PKD1 (D1504fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2683674	NM_001009944.3(PKD1):c.4857del (p.Ala1620fs)	PKD1 (A1620fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2683673	NM_001009944.3(PKD1):c.7615del (p.Leu2539fs)	PKD1 (L2539fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2683672	NM_001009944.3(PKD1):c.10236del (p.Ser3413fs)	PKD1 (S3412fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2683671	NM_000138.5(FBN1):c.1584C>A (p.Cys528Ter)	FBN1 (C528*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2683670	NM_000138.5(FBN1):c.4211-2A>C	FBN1, LOC126862124	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2683669	NM_000020.3(ACVRL1):c.1347dup (p.Thr450fs)	ACVRL1 (T262fs +4 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2683668	NM_000020.3(ACVRL1):c.543_544del (p.Asp181fs)	ACVRL1 (D181fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2683667	NM_001258392.3(CLPB):c.874-2A>G	CLPB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2683666	NM_012200.4(B3GAT3):c.85C>T (p.Gln29Ter)	B3GAT3 (Q22* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2683665	NM_017617.5(NOTCH1):c.977dup (p.Trp327fs)	NOTCH1 (W327fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2683664	NM_000093.5(COL5A1):c.4820del (p.Gly1607fs)	COL5A1, LOC101448202 (G1607fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2683663	NM_000093.5(COL5A1):c.4065del (p.Ala1356fs)	COL5A1 (A1356fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2683662	NM_000093.5(COL5A1):c.3526C>T (p.Gln1176Ter)	COL5A1 (Q1176*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2683661	NM_139027.6(ADAMTS13):c.2317C>T (p.Gln773Ter)	ADAMTS13 (Q742* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2683660	NM_139027.6(ADAMTS13):c.305G>A (p.Arg102His)	ADAMTS13 (R102H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2683659	NM_001114753.3(ENG):c.954_955delinsACGAAGACAA (p.Leu319fs)	ENG (L137fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2683658	NM_001114753.3(ENG):c.997_1001del (p.Arg333fs)	ENG (R151fs +1 more)	Deletion (frameshift variant)	Hereditary hemorrhagic telangiectasia +1 more	GPathogenic
Select item 2683657	NM_001114753.3(ENG):c.1078C>T (p.Gln360Ter)	ENG (Q178* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2683656	NM_017662.5(TRPM6):c.2323C>T (p.Gln775Ter)	TRPM6 (Q770* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2683655	NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)	PKHD1 (Q3697*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2683654	NM_001206927.2(DNAH8):c.4736G>A (p.Trp1579Ter)	DNAH8 (W1362* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2683653	NM_001365276.2(TNXB):c.1680del (p.Gly562fs)	TNXB (G562fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2683652	NM_003052.5(SLC34A1):c.1007-1G>A	SLC34A1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2683651	NM_006846.4(SPINK5):c.2015+5G>A	SPINK5	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2683650	NM_198253.3(TERT):c.2147C>G (p.Ala716Gly)	TERT (A716G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2683649	NM_001364905.1(LRBA):c.7389dup (p.Gly2464fs)	LRBA (G2464fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2683648	NM_000204.5(CFI):c.111dup (p.Tyr38fs)	CFI (Y38fs)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2683647	NM_000204.5(CFI):c.1384C>T (p.Gln462Ter)	CFI (Q259* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2683646	NM_001098484.3(SLC4A4):c.1412C>T (p.Ser471Leu)	SLC4A4 (S427L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2683645	NM_032638.5(GATA2):c.569_570insAAGC (p.Ala191fs)	GATA2 (A191fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic

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