ClinVar (all) for Orgtrack (Select 505572) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Orgtrack

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337986	NM_016145.4(WDR83OS):c.235C>T (p.Gln79Ter)	WDR83, WDR83OS (Q79*)	Single nucleotide variant (nonsense +2 more)	Hypercholanemia, familial	GPathogenic
Select item 3336830	NM_016145.4(WDR83OS):c.156+2T>A	WDR83, WDR83OS	Single nucleotide variant (intron variant +1 more)	Hypercholanemia, familial	GPathogenic
Select item 3336829	NM_016145.4(WDR83OS):c.50+1G>T	WDR83, WDR83OS	Single nucleotide variant (intron variant +1 more)	Hypercholanemia, familial	GPathogenic
Select item 2577971	NM_016145.4(WDR83OS):c.255-4_260del	WDR83, WDR83OS	Deletion (splice acceptor variant +1 more)	Hypercholanemia, familial	GPathogenic
Select item 2445432	GRCh37/hg19 18q11.1-11.2(chr18:18856932-19159898)x1	ESCO1, GREB1L	Copy number loss	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GPathogenic
Select item 2444488	NM_001142966.3(GREB1L):c.3068G>A (p.Arg1023Gln)	GREB1L (R1023Q +2 more)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	GUncertain significance
Select item 2444487	NM_001142966.3(GREB1L):c.2722T>C (p.Cys908Arg)	GREB1L (C799R +2 more)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	GUncertain significance
Select item 2444486	NM_001142966.3(GREB1L):c.1558G>A (p.Asp520Asn)	GREB1L, LOC101927521 (D520N +1 more)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 2444485	NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs)	GREB1L (K1799fs)	Deletion (frameshift variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GPathogenic
Select item 2444484	NM_001142966.3(GREB1L):c.3205T>A (p.Leu1069Met)	GREB1L (L1069M +2 more)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 2444483	NM_001142966.3(GREB1L):c.4054GAG[2] (p.Glu1354del)	GREB1L (E1245del +2 more)	Microsatellite (inframe_deletion +1 more)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 2444482	NM_001142966.3(GREB1L):c.3167T>C (p.Leu1056Pro)	GREB1L (L1056P +2 more)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 2444481	NM_001142966.3(GREB1L):c.2321T>A (p.Leu774Gln)	GREB1L (L665Q +2 more)	Single nucleotide variant (missense variant)	Scoliosis, isolated, susceptibility to, 1	GUncertain significance
Select item 2444480	NM_001142966.3(GREB1L):c.2947G>A (p.Gly983Ser)	GREB1L (G1026S +2 more)	Single nucleotide variant (missense variant)	Scoliosis, isolated, susceptibility to, 1	GUncertain significance
Select item 2444479	NM_001142966.3(GREB1L):c.575G>A (p.Arg192Gln)	GREB1L, LOC101927521 (R192Q)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	GUncertain significance
Select item 2444478	NM_001142966.3(GREB1L):c.3353G>A (p.Arg1118Gln)	GREB1L (R1009Q +2 more)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	GUncertain significance
Select item 2444477	NM_001142966.3(GREB1L):c.3085G>A (p.Asp1029Asn)	GREB1L (D1029N +2 more)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	GUncertain significance
Select item 2444476	NM_001142966.3(GREB1L):c.5441C>A (p.Ala1814Asp)	GREB1L (A1705D +2 more)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 2444475	NM_001142966.3(GREB1L):c.3146+1G>A	GREB1L	Single nucleotide variant (splice donor variant)	Mayer Rokitansky Kuster Hauser syndrome type 1	GPathogenic
Select item 1780374	NM_000314.8(PTEN):c.1061C>G (p.Pro354Arg)	PTEN (P157R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1750675	NM_000314.8(PTEN):c.594G>A (p.Met198Ile)	PTEN (M1I +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1723455	NM_001421.4(ELF4):c.560C>A (p.Thr187Asn)	ELF4 (T187N)	Single nucleotide variant (missense variant)	See cases	GPathogenic
Select item 1712247	NM_001967.4(EIF4A2):c.481G>T (p.Gly161Trp)	EIF4A2 (G161W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1707470	Single allele	CCT8, LINC00161 +29 more	Duplication	not specified	GUncertain significance
Select item 1707469	Single allele	LINC02315, LOC129390622	Duplication	not specified	GUncertain significance
Select item 1707468	Single allele	COL4A1, COL4A2 +27 more	Duplication	not specified	GUncertain significance
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 1707466	Single allele	BCCIP, CTBP2 +34 more	Duplication	not specified	GUncertain significance
Select item 1707465	Single allele	ADTRP, EDN1 +47 more	Duplication	not specified	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 1707463	Single allele	AP1G1, CALB2 +36 more	Duplication	not specified	GUncertain significance
Select item 1707462	Single allele	ACCS, ACCSL +64 more	Duplication	not specified	GUncertain significance
Select item 1707461	Single allele	CKS2, DIRAS2 +91 more	Duplication	not specified	GUncertain significance
Select item 1707460	Single allele	CDHR2, EIF4E1B +71 more	Duplication	5q35 microduplication syndrome	GPathogenic
Select item 1707459	Single allele	LINC00501, LINC00578 +29 more	Duplication	not specified	GLikely pathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 1707457	Single allele	LOC129388781, LOC129932784 +123 more	Duplication	not specified	GUncertain significance
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 1707455	Single allele	LOC107832855, LOC129391286 +8 more	Duplication	not specified	GUncertain significance
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 1707451	Single allele	FGF10, FGF10-AS1 +5 more	Duplication	not specified	GUncertain significance
Select item 1707450	Single allele	CASR, CSTA +45 more	Duplication	not specified	GUncertain significance
Select item 1707449	Single allele	ARHGAP10, EDNRA +21 more	Duplication	not specified	GUncertain significance
Select item 1704247	NM_145030.4(PPP1R35):c.753_*3delinsCG (p.Trp251fs)	PPP1R35 (W251fs)	Indel (3 prime UTR variant +1 more)	Progressive microcephaly	GPathogenic
Select item 1700036	NM_004780.3(TCEAL1):c.346G>A (p.Asp116Asn)	TCEAL1 (D116N)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1700035	NM_004780.3(TCEAL1):c.169del (p.Leu57fs)	TCEAL1 (L57fs)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 1700034	Single allele	TCEAL1, TCEAL3 +1 more	Deletion	See cases	GLikely pathogenic
Select item 1700033	Single allele	TCEAL1	Deletion	See cases	GLikely pathogenic
Select item 1700032	NM_004780.3(TCEAL1):c.269G>A (p.Cys90Tyr)	TCEAL1 (C90Y)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 1700031	NM_004780.3(TCEAL1):c.259C>T (p.Gln87Ter)	TCEAL1 (Q87*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 1700030	NM_004780.3(TCEAL1):c.299_302del (p.Gly100fs)	TCEAL1 (G100fs)	Microsatellite (frameshift variant)	See cases	GLikely pathogenic
Select item 1700029	NM_004780.3(TCEAL1):c.447G>A (p.Trp149Ter)	TCEAL1 (W149*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 1699933	NM_139278.4(LGI3):c.937del (p.Thr313fs)	LGI3 (T313fs)	Deletion (frameshift variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699932	NM_139278.4(LGI3):c.102dup (p.Lys35fs)	LGI3 (K35fs)	Duplication (frameshift variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699931	NM_139278.4(LGI3):c.830-1G>A	LGI3	Single nucleotide variant (splice acceptor variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699930	NM_139278.4(LGI3):c.422T>A (p.Leu141His)	LGI3 (L141H)	Single nucleotide variant (missense variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699929	NM_139278.4(LGI3):c.1117del (p.Trp373fs)	LGI3 (W373fs)	Deletion (frameshift variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699928	NM_139278.4(LGI3):c.991G>A (p.Asp331Asn)	LGI3 (D331N)	Single nucleotide variant (missense variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699927	NM_139278.4(LGI3):c.335C>A (p.Ser112Ter)	LGI3 (S112*)	Single nucleotide variant (nonsense)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699926	NM_139278.4(LGI3):c.494+1G>C	LGI3	Single nucleotide variant (splice donor variant)	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1699925	NC_000008.11:g.22146137_22152989del	LGI3	Deletion	Peripheral nerve hyperexcitability syndrome	GPathogenic
Select item 1695397	Single allele	BHLHA9, TRARG1	Duplication	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1695395	NM_003394.4(WNT10B):c.741del (p.Lys246_Cys247insTer)	WNT10B	Deletion (nonsense)	Split hand-foot malformation 6	GPathogenic
Select item 1695394	NM_003995.4(NPR2):c.1087C>T (p.Arg363Ter)	NPR2 (R363*)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 1695393	NM_003995.4(NPR2):c.277C>A (p.Pro93Thr)	NPR2 (P93T)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 1, Maroteaux type	GLikely pathogenic
Select item 1695392	NM_000523.4(HOXD13):c.623A>T (p.Asp208Val)	HOXD13 (D208V)	Single nucleotide variant (missense variant)	Synpolydactyly type 1	GUncertain significance
Select item 1695391	Single allele	BHLHA9, TRARG1	Duplication	Gollop-Wolfgang complex	GPathogenic
Select item 1695390	NM_000168.6(GLI3):c.1673C>A (p.Ser558Ter)	GLI3 (S558*)	Single nucleotide variant (nonsense)	Polysyndactyly 4	GPathogenic
Select item 1692471	NM_000546.6(TP53):c.129G>C (p.Leu43Phe)	TP53 (L43F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1506044	NM_000546.6(TP53):c.147T>G (p.Asp49Glu)	TP53 (D10E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1501773	NM_000314.8(PTEN):c.904A>G (p.Ser302Gly)	PTEN (S105G +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1495821	NM_000546.6(TP53):c.892G>C (p.Glu298Gln)	TP53 (E166Q +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1487358	NM_000546.6(TP53):c.322G>T (p.Gly108Cys)	TP53 (G69C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1471049	NM_000546.6(TP53):c.124G>A (p.Asp42Asn)	TP53 (D3N +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1342665	NM_002941.4(ROBO1):c.4565C>T (p.Ser1522Leu)	ROBO1 (S1422L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1333378	NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter)	GREB1L (R1526*)	Single nucleotide variant (nonsense)	Mayer Rokitansky Kuster Hauser syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1332212	NM_000314.8(PTEN):c.743C>G (p.Pro248Arg)	PTEN (P248R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 1330375	NM_016562.4(TLR7):c.1521T>G (p.Phe507Leu)	TLR7 (F507L)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus 17 +1 more	GPathogenic
Select item 1330306	NM_000117.3(EMD):c.188-6A>G	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GConflicting classifications of pathogenicity
Select item 1329852	NM_016145.4(WDR83OS):c.156+1G>T	WDR83, WDR83OS	Single nucleotide variant (intron variant +1 more)	Neurodevelopmental disorder with seizures and speech and walking impairment +1 more	GConflicting classifications of pathogenicity
Select item 1328379	NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser)	LOC101927521, GREB1L (G185S)	Single nucleotide variant (missense variant)	Mayer-Rokitansky-Küster-Hauser syndrome type 2	GUncertain significance
Select item 1317087	NM_000314.8(PTEN):c.956C>T (p.Thr319Ile)	PTEN (T122I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1195980	NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu)	PLS3 (F307L +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GUncertain significance
Select item 1195979	NM_005032.7(PLS3):c.617C>T (p.Ala206Val)	PLS3 (A161V +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GLikely pathogenic
Select item 1098571	NM_032242.4(PLXNA1):c.356T>C (p.Leu119Pro)	PLXNA1 (L119P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1053430	NM_000314.8(PTEN):c.133G>A (p.Val45Ile)	PTEN (V218I +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1047907	NM_032141.4(NSRP1):c.52C>T (p.Gln18Ter)	NSRP1 (Q18*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1047906	NM_032141.4(NSRP1):c.1272dup (p.Lys425fs)	NSRP1 (K371fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities +4 more	GPathogenic
Select item 1047905	NM_032141.4(NSRP1):c.1359_1362del (p.Glu455fs)	NSRP1 (E401fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities +4 more	GPathogenic
Select item 1037500	NM_000314.8(PTEN):c.472G>T (p.Val158Leu)	PTEN (V158L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1033328	NM_001142966.3(GREB1L):c.5650C>T (p.Arg1884Cys)	GREB1L (R1884C)	Single nucleotide variant (missense variant)	Mayer Rokitansky Kuster Hauser syndrome type 1 +1 more	GUncertain significance
Select item 1022675	NM_000314.8(PTEN):c.1090T>C (p.Ser364Pro)	PTEN (S167P +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1015453	NM_000546.6(TP53):c.1027G>C (p.Glu343Gln)	TP53 (E184Q +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 995855	NM_006421.5(ARFGEF1):c.2524C>T (p.Gln842Ter)	ARFGEF1 (Q842*)	Single nucleotide variant (nonsense)	Seizure	GPathogenic
Select item 984984	GRCh37/hg19 17p13.3(chr17:1-1026797)x1	GEMIN4, ABR +10 more	Copy number loss	Robinow syndrome, autosomal recessive 2	GLikely pathogenic
Select item 984983	NM_022463.5(NXN):c.817C>T (p.Gln273Ter)	NXN (Q165* +1 more)	Single nucleotide variant (nonsense)	Robinow syndrome, autosomal recessive 2	GPathogenic

<< First< Prev

Page of 10