ClinVar (all) for Orgtrack (Select 507063) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064268	NC_000014.9:g.(?_87933020)_(87956057_?)del	GALC, LOC132090288	Deletion	Epilepsy syndrome	GUncertain risk allele
Select item 3062361	GRCh38/hg38 Xp22.33(chrX:335525-805472)	CNE-3, CNE-5 +7 more	Copy number gain	Epilepsy syndrome	GUncertain significance
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3062347	GRCh38/hg38 22q11.21(chr22:19334035-19430073)	HIRA	Copy number gain	Phelan-McDermid syndrome	GUncertain significance
Select item 3062346	GRCh38/hg38 22q12.2-12.3(chr22:31684443-31987722)	DEPDC5, LINC02558 +14 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3062345	GRCh38/hg38 16p11.2(chr16:29642391-30204353)	LOC121587541, LOC121847976 +105 more	Copy number loss	Epilepsy syndrome	GPathogenic, low penetrance
Select item 3062344	GRCh38/hg38 13q21.32(chr13:65630901-67257385)	LINC01052, LOC110120945 +13 more	Copy number gain	Epilepsy syndrome	GUncertain significance
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	LOC129930347, LOC129930348 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 3062342	NC_000008.11:g.(?_67476661)_(67485906_?)del	ARFGEF1-DT, CPA6	Deletion	Epilepsy syndrome	GUncertain significance
Select item 3062340	NC_000005.10:g.(?_66758973)_(67006046_?)del	LOC126807413, LOC126807414 +6 more	Deletion	Epilepsy syndrome	GUncertain significance
Select item 3024561	GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)	ACP6, ANKRD34A +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024387	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)	LOC102723692, LOC111365165 +77 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024386	GRCh38/hg38 14q21.2-21.3(chr14:46402812-47162762)	LINC00871, LOC126861932 +5 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3024385	GRCh38/hg38 5q23.1(chr5:119555413-119745470)	FAM170A, LOC129994462	Copy number loss	Autism spectrum disorder	GLikely pathogenic
Select item 3024384	GRCh38/hg38 4q35.2(chr4:187200844-188870692)	LINC01060, LINC02374 +27 more	Copy number gain	Autism spectrum disorder	GLikely benign
Select item 3024383	GRCh38/hg38 15q11.2(chr15:22633497-23084434)	CYFIP1, LOC112272575 +18 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	LOC110120863, LOC112529910 +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024381	GRCh38/hg38 16p13.11(chr16:15399656-16194269)	ABCC1, ABCC6 +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024380	GRCh38/hg38 3p13(chr3:71518345-71562911)	FOXP1, LOC110121007 +1 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3024379	GRCh38/hg38 16p11.2(chr16:28825316-29028291)	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024378	GRCh38/hg38 16p13.2(chr16:8937723-10049200)	LOC130058406, LOC130058407 +33 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024377	GRCh38/hg38 Xq24(chrX:119146025-119709342)	KIAA1210, LINC03098 +38 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024376	GRCh38/hg38 1q31.2-31.3(chr1:193733481-196205927)	LINC01724, LOC121725067 +19 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3024375	GRCh38/hg38 7q34(chr7:140901060-141011481)	BRAF, LOC129999507 +1 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024373	GRCh38/hg38 17p13.3(chr17:2500691-2687314)	LOC125177406, LOC129390821 +7 more	Copy number gain	Autism spectrum disorder	GLikely pathogenic
Select item 3024372	GRCh38/hg38 12q24.31(chr12:123141008-123578625)	LOC129390584, LOC130009080 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024371	GRCh38/hg38 7q35(chr7:146320644-146339450)	CNTNAP2	Copy number loss	Autism spectrum disorder	GLikely benign
Select item 3024370	GRCh38/hg38 7p21.3(chr7:12875659-13231798)	LOC123924905, LOC123924906 +7 more	Copy number loss	Autism spectrum disorder	GLikely benign
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	LOC113219472, LOC113633876 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024368	GRCh38/hg38 4q21.21(chr4:78722180-79522307)	BMP2K, BMP2K-DT +15 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024367	GRCh38/hg38 18p11.21(chr18:12244578-12507815)	AFG3L2, CIDEA +11 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024366	GRCh38/hg38 Xq28(chrX:152819425-152869723)	CETN2, LOC126863347 +2 more	Copy number gain	Autism spectrum disorder	GLikely pathogenic
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3024364	GRCh38/hg38 5p13.2(chr5:33977416-34745466)	AMACR, C1QTNF3 +17 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024363	GRCh38/hg38 6q15(chr6:88638119-89726639)	LOC129389578, LOC129996811 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024352	GRCh38/hg38 7p15.2(chr7:25988742-26495573)	CBX3, HNRNPA2B1 +24 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024351	GRCh38/hg38 5q13.2(chr5:71378409-72329454)	BDP1, CARTPT +20 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024348	GRCh38/hg38 2q13(chr2:109301667-110460985)	LOC112695115, LOC126806305 +33 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024346	GRCh38/hg38 2p16.3(chr2:50590007-50802034)	LOC110121071, LOC129388861 +2 more	Copy number loss	Autism spectrum disorder	GLikely pathogenic
Select item 3024212	GRCh38/hg38 10p11.21(chr10:34891282-35211554)	CREM, CUL2 +13 more	Copy number gain	Autism spectrum disorder	GLikely benign
Select item 3024179	NC_000007.14:g.(?_148411122)_(148421361_?)dup	CNTNAP2	Duplication	Autism spectrum disorder	GUncertain significance
Select item 3024178	NC_000023.11:g.(?_100366731)_(100369616_?)del	PCDH19	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3024177	NC_000023.11:g.(?_28852188)_(28855815_?)del	IL1RAPL1	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3024176	NC_000002.12:g.(?_1852302)_(2191394_?)dup	LOC129932982, MYT1L	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 3024175	NC_000002.12:g.(?_50574106)_(50580198_?)del	NRXN1	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3024174	NC_000023.11:g.(?_80671287)_(80671570_?)dup	BRWD3	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 3024089	NC_000003.12:g.(?_175372620)_(176011214_?)del	LOC132088905, NAALADL2 +1 more	Deletion	Autism spectrum disorder	GUncertain significance
Select item 2442325	NM_001354712.2(THRB):c.1357_1358delinsAA (p.Pro453Asn)	THRB (P396N +2 more)	Indel (missense variant)	Thyroid hormone resistance, generalized, autosomal dominant	GLikely pathogenic
Select item 2430180	NM_000089.4(COL1A2):c.2873G>T (p.Gly958Val)	COL1A2 (G958V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 2430179	NM_000089.4(COL1A2):c.2295+5G>A	COL1A2	Single nucleotide variant (intron variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 2430178	NM_000088.4(COL1A1):c.3182G>T (p.Gly1061Val)	COL1A1 (G1061V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 1676776	NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)	L1CAM (N787K +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome	GLikely pathogenic
Select item 1676775	NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)	L1CAM (Q517fs +1 more)	Deletion (frameshift variant)	X-linked hydrocephalus syndrome	GLikely pathogenic
Select item 1676774	NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter)	L1CAM (Q761* +1 more)	Single nucleotide variant (nonsense)	X-linked hydrocephalus syndrome	GPathogenic
Select item 1300030	NM_000527.5(LDLR):c.373_379del (p.Gln125fs)	LDLR (Q125fs +1 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1098721	NM_138711.6(PPARG):c.353G>A (p.Gly118Glu)	PPARG (G118E +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 993947	NM_000088.4(COL1A1):c.1247G>T (p.Gly416Val)	COL1A1 (G416V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 870122	NM_002615.7(SERPINF1):c.925_926del (p.Gln309fs)	SERPINF1 (Q122fs +1 more)	Deletion (frameshift variant)	Osteogenesis imperfecta	GPathogenic
Select item 870121	NM_002615.7(SERPINF1):c.808G>T (p.Gly270Ter)	SERPINF1 (G270* +1 more)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta	GPathogenic
Select item 870120	NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln)	LRP5 (R1002Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 870119	NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys)	LRP5 (R450C)	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 870118	NM_021939.4(FKBP10):c.391+1G>A	FKBP10	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 870117	NM_005430.4(WNT1):c.937C>A (p.Arg313Ser)	WNT1 (R313S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 870116	NM_000918.4(P4HB):c.1200C>G (p.Cys400Trp)	P4HB (C400W)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome	GUncertain significance
Select item 870115	NC_000007.14:g.(?_94402140)_(94406279_?)del	COL1A2	Deletion	Osteogenesis imperfecta	GLikely pathogenic
Select item 870114	NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys)	COL1A2 (G361C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic/Likely pathogenic
Select item 870113	NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)	COL1A2 (G304S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +4 more	GPathogenic/Likely pathogenic
Select item 870112	NM_000089.4(COL1A2):c.957_974dup (p.Ala320_Gly325dup)	COL1A2	Duplication (inframe_insertion)	Osteogenesis imperfecta	GPathogenic
Select item 870111	NM_000089.4(COL1A2):c.1216_1218del (p.Gly406del)	COL1A2 (G406del)	Deletion (inframe_deletion)	Osteogenesis imperfecta	GLikely pathogenic
Select item 870110	NM_000088.4(COL1A1):c.992C>T (p.Ala331Val)	COL1A1 (A331V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GConflicting classifications of pathogenicity
Select item 870109	NM_000088.4(COL1A1):c.1002+5G>T	COL1A1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 870108	NM_000088.4(COL1A1):c.2102del (p.Gly701fs)	COL1A1 (G701fs)	Deletion (frameshift variant)	Osteogenesis imperfecta	GPathogenic
Select item 870107	NC_000017.11:g.50198206del	COL1A1	Deletion	Osteogenesis imperfecta	GPathogenic
Select item 870106	NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys)	COL1A1 (G857C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +1 more	GPathogenic/Likely pathogenic
Select item 870105	NM_000088.4(COL1A1):c.3370-1G>C	COL1A1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta	GPathogenic
Select item 870104	NC_000017.11:g.(?_50193945)_(50201396_?)del	COL1A1	Deletion	Osteogenesis imperfecta	GPathogenic
Select item 870103	NM_000088.4(COL1A1):c.1646del (p.Pro549fs)	COL1A1 (P549fs)	Deletion (frameshift variant)	Osteogenesis imperfecta	GPathogenic
Select item 870102	NM_000088.4(COL1A1):c.1281del (p.Gly428fs)	COL1A1 (G428fs)	Deletion (frameshift variant)	Osteogenesis imperfecta	GPathogenic
Select item 870101	NM_000088.4(COL1A1):c.1112G>C (p.Gly371Ala)	COL1A1 (G371A)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 818214	NM_001059.3(TACR3):c.737+1G>A	TACR3	Single nucleotide variant (splice donor variant)	Hypogonadotropic hypogonadism 11 with or without anosmia +1 more	GPathogenic/Likely pathogenic
Select item 818213	NM_000894.3(LHB):c.286G>A (p.Val96Met)	LHB (V96M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 818212	NM_017780.4(CHD7):c.8006dup (p.Pro2670fs)	CHD7 (P621fs +1 more)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GPathogenic
Select item 818211	NM_144773.4(PROKR2):c.728A>G (p.Tyr243Cys)	PROKR2 (Y243C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GUncertain significance
Select item 818210	NM_144773.4(PROKR2):c.403C>T (p.Arg135Cys)	PROKR2 (R135C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 692195	NM_006941.4(SOX10):c.403A>G (p.Ser135Gly)	POLR2F, SOX10 (S135G)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E	GLikely pathogenic
Select item 692194	NM_023110.3(FGFR1):c.275_289del (p.Val92_Ser96del)	FGFR1	Deletion (inframe_deletion +1 more)	Hypogonadotropic hypogonadism 2 with or without anosmia	GLikely pathogenic
Select item 692193	NM_000216.4(ANOS1):c.313del (p.Cys105fs)	ANOS1 (C105fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GLikely pathogenic
Select item 692192	NM_023110.3(FGFR1):c.1871T>C (p.Leu624Pro)	FGFR1 (L531P +7 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 2 with or without anosmia	GUncertain significance
Select item 692191	NM_000216.4(ANOS1):c.773G>A (p.Trp258Ter)	ANOS1 (W258*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 691338	NM_000089.4(COL1A2):c.431A>G (p.Asp144Gly)	COL1A2 (D144G)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 691337	NM_000089.4(COL1A2):c.802G>A (p.Gly268Arg)	COL1A2 (G268R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 691336	NM_000089.4(COL1A2):c.1667G>T (p.Gly556Val)	COL1A2 (G556V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 691335	NM_000089.4(COL1A2):c.1001G>A (p.Gly334Asp)	COL1A2 (G334D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 691334	NM_000089.4(COL1A2):c.875G>A (p.Gly292Asp)	COL1A2 (G292D)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +1 more	GPathogenic/Likely pathogenic
Select item 691333	NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser)	COL1A2 (G298S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +2 more	GPathogenic/Likely pathogenic
Select item 691332	NM_000089.4(COL1A2):c.3215G>T (p.Gly1072Val)	COL1A2 (G1072V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 691331	NM_000088.4(COL1A1):c.4248+1G>A	COL1A1	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta	GPathogenic
Select item 691330	NM_000088.4(COL1A1):c.3421del (p.Arg1141fs)	COL1A1 (R1141fs)	Deletion (frameshift variant)	Osteogenesis imperfecta	GPathogenic
Select item 691329	NM_000088.4(COL1A1):c.617G>T (p.Gly206Val)	COL1A1 (G206V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GLikely pathogenic

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