gi|168009804|ref|XP_001757595.1| - ClinVar - NCBI

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The following terms were not found in ClinVar: 168009804, XP_001757595.1.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696697	NM_002074.5(GNB1):c.*1316G>C	GNB1	Single nucleotide variant (3 prime UTR variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1687407	NM_002074.5(GNB1):c.1007T>A (p.Leu336His)	GNB1 (L236H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 224718	NM_002074.5(GNB1):c.976G>A (p.Ala326Thr)	GNB1 (A326T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 2432202	NM_002074.5(GNB1):c.955G>C (p.Gly319Arg)	GNB1 (G219R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1315579	NM_002074.5(GNB1):c.917-1G>T	GNB1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 1315578	NM_002074.5(GNB1):c.915_916del (p.Gly306fs)	GNB1 (G206fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 3024332	NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)	GNB1 (G172R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +2 more	GLikely pathogenic
Select item 995963	NM_002074.5(GNB1):c.727A>G (p.Thr243Ala)	GNB1 (T143A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	Gnot provided
Select item 1033473	NM_002074.5(GNB1):c.520G>A (p.Gly174Ser)	GNB1 (G74S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 1048759	NM_002074.5(GNB1):c.496T>C (p.Cys166Arg)	GNB1 (C166R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 1285499	NM_002074.5(GNB1):c.487G>A (p.Asp163Asn)	GNB1 (D163N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 775489	NM_002074.5(GNB1):c.462C>T (p.Asp154=)	GNB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1696698	NM_002074.5(GNB1):c.431-4668T>C	GNB1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1562666	NM_002074.5(GNB1):c.402C>T (p.Arg134=)	GNB1	Single nucleotide variant (synonymous variant)	Acute lymphoid leukemia +3 more	GLikely benign
Select item 452797	NM_002074.5(GNB1):c.388G>A (p.Glu130Lys)	GNB1 (E130K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42 +1 more	GPathogenic/Likely pathogenic
Select item 521213	NM_002074.5(GNB1):c.353A>G (p.Asp118Gly)	GNB1 (D118G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 812755	NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr)	GNB1 (D118Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1315581	NM_002074.5(GNB1):c.341G>A (p.Cys114Tyr)	GNB1 (C114Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 3066080	NM_002074.5(GNB1):c.332A>G (p.Tyr111Cys)	GNB1 (Y111C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GUncertain significance
Select item 1710142	NM_002074.5(GNB1):c.326G>A (p.Gly109Glu)	GNB1 (G109E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 224717	NM_002074.5(GNB1):c.301A>G (p.Met101Val)	GNB1 (M101V +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GPathogenic/Likely pathogenic
Select item 995962	NM_002074.5(GNB1):c.287G>T (p.Arg96Leu)	GNB1 (R96L)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hypotonia +2 more	GPathogenic/Likely pathogenic
Select item 2000177	NM_002074.5(GNB1):c.281C>G (p.Pro94Arg)	GNB1 (P94R)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 976435	NM_002074.5(GNB1):c.280C>T (p.Pro94Ser)	GNB1 (P94S)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GUncertain significance
Select item 1315577	NM_002074.5(GNB1):c.272_275del (p.His91fs)	GNB1 (H91fs)	Deletion (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 633546	NM_002074.5(GNB1):c.274G>A (p.Ala92Thr)	GNB1 (A92T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1315576	NM_002074.5(GNB1):c.268-1G>T	GNB1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 1032797	NM_002074.5(GNB1):c.267+7A>G	GNB1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 391609	NM_002074.5(GNB1):c.239T>G (p.Ile80Ser)	GNB1 (I80S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 224715	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)	GNB1 (I80N)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +2 more	GPathogenic
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder +7 more	GPathogenic/Likely pathogenic
Select item 224714	NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	GNB1 (K78R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1315582	NM_002074.5(GNB1):c.230G>T (p.Gly77Val)	GNB1 (G77V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 985590	NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)	GNB1 (G77D)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +3 more	GPathogenic/Likely pathogenic
Select item 431082	NM_002074.5(GNB1):c.230G>C (p.Gly77Ala)	GNB1 (G77A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1700090	NM_002074.5(GNB1):c.229G>T (p.Gly77Cys)	GNB1 (G77C)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GPathogenic
Select item 224713	NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)	GNB1 (G77S)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +2 more	GPathogenic/Likely pathogenic
Select item 1699320	NM_002074.5(GNB1):c.228T>A (p.Asp76Glu)	GNB1 (D76E)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42	GPathogenic
Select item 224711	NM_002074.5(GNB1):c.227A>G (p.Asp76Gly)	GNB1 (D76G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 976696	NM_002074.5(GNB1):c.226G>A (p.Asp76Asn)	GNB1 (D76N)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GPathogenic/Likely pathogenic
Select item 2444031	NM_002074.5(GNB1):c.183G>T (p.Met61Ile)	GNB1 (M61I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 1029408	NM_002074.5(GNB1):c.178G>A (p.Ala60Thr)	GNB1 (A60T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GUncertain significance
Select item 617622	NM_002074.5(GNB1):c.158G>A (p.Gly53Glu)	GNB1 (G53E)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 1326280	NM_002074.5(GNB1):c.154C>T (p.Arg52Trp)	GNB1 (R52W)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2572418	NM_002074.5(GNB1):c.93_94del (p.Gln32fs)	GNB1 (Q32fs)	Microsatellite (frameshift variant +1 more)	Intellectual disability, autosomal dominant 42	GLikely pathogenic
Select item 638348	NM_002074.5(GNB1):c.34G>A (p.Glu12Lys)	GNB1 (E12K)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 42 +1 more	GConflicting classifications of pathogenicity
Select item 297115	NM_017837.4(PIGV):c.348G>A (p.Leu116=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	PIGV-related condition +3 more	GConflicting classifications of pathogenicity
Select item 870372	NM_017825.3(ADPRS):c.639_642del (p.Lys213fs)	ADPRS (K213fs)	Deletion (frameshift variant)	Abdominal distention +8 more	GUncertain significance
Select item 57429	GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3	ARMH1, BEST4 +39 more	Copy number gain	See cases	GUncertain significance
Select item 449417	NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)	MUTYH (R274W +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 7806	NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer)	GLMN	Deletion (nonsense +1 more)	GLMN-related condition +2 more	GPathogenic
Select item 160833	GRCh38/hg38 1q21.1(chr1:145635445-146009630)x1	ANKRD34A, ANKRD35 +41 more	Copy number loss	See cases	GPathogenic
Select item 59691	GRCh38/hg38 1q21.1(chr1:145635445-145968427)x3	ANKRD34A, ANKRD35 +35 more	Copy number gain	See cases	GUncertain significance
Select item 160792	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1	TRH-GTG1-2, TRH-GTG1-3 +53 more	Copy number loss	See cases	GPathogenic
Select item 65570	NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)	GBA1, LOC106627981 (R159W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 985090	NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn)	SPTA1 (K1449N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1691326	NM_005401.5(PTPN14):c.1066+3A>T	PTPN14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 201235	NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)	RYR2 (R1051C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +7 more	GConflicting classifications of pathogenicity
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +226 more	Copy number loss	See cases	GPathogenic
Select item 160839	GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3	BIRC6, BIRC6-AS2 +15 more	Copy number gain	See cases	GBenign
Select item 40683	NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	SOS1 (R552K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 89488	NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)	MSH6 (A1190fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 2627381	NM_003124.5(SPR):c.560A>G (p.Glu187Gly)	SPR (E187G)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GLikely pathogenic
Select item 57563	GRCh38/hg38 2q12.2-12.3(chr2:106261594-107786796)x1	CD8B2, GACAT1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 160844	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 599048	NM_006593.4(TBR1):c.405del (p.Ala136fs)	TBR1 (A136fs)	Deletion (frameshift variant)	Autism, susceptibility to, 5	GPathogenic
Select item 623475	NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys)	CTLA4 (Y139C)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency +1 more	GConflicting classifications of pathogenicity
Select item 2428920	NM_000335.5(SCN5A):c.5341_5342del (p.Ser1781fs)	SCN5A (S1728fs +5 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 843425	NM_032638.5(GATA2):c.1289C>T (p.Ala430Val)	GATA2 (A416V +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 160885	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	LINC00885, LOC126806932 +107 more	Copy number loss	See cases	GPathogenic
Select item 1691355	NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)	FGFR3 (P461L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +14 more	GUncertain significance
Select item 522802	NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs)	PPP3CA (S438fs +1 more)	Duplication (frameshift variant)	Epileptic encephalopathy, infantile or early childhood, 1	GPathogenic
Select item 474342	NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter)	TRAPPC11 (R398*)	Single nucleotide variant (nonsense)	Limb-girdle muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 977744	NM_002184.4(IL6ST):c.2121del (p.Asp707_Leu708insTer)	IL6ST	Deletion (frameshift variant +2 more)	Hyper-IgE recurrent infection syndrome 1, autosomal dominant	GUncertain significance
Select item 949975	NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter)	CCNH, RASA1 (R1010* +1 more)	Single nucleotide variant (nonsense +1 more)	Capillary malformation-arteriovenous malformation syndrome +1 more	GPathogenic
Select item 264670	NM_001127511.3(APC):c.-195A>C	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 39589	NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp)	PDGFRB (R987W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic
Select item 209196	NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)	TNXB (V3219M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 209197	NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly)	TNXB (R3211G +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GConflicting classifications of pathogenicity
Select item 496526	NM_138694.4(PKHD1):c.8036T>C (p.Leu2679Pro)	PKHD1 (L2679P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 57021	GRCh38/hg38 6q27(chr6:169441378-170612001)x1	C6orf120, DLL1 +40 more	Copy number loss	See cases	GPathogenic
Select item 434027	NM_000535.7(PMS2):c.538-1G>C	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 434024	NM_000535.7(PMS2):c.134A>C (p.Asn45Thr)	PMS2 (N45T)	Single nucleotide variant (missense variant +3 more)	Endometrial carcinoma	GLikely pathogenic
Select item 160898	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 160823	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 160822	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	See cases	GPathogenic
Select item 160831	GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3	LOC105375387, LOC126860099 +5 more	Copy number gain	See cases	GUncertain significance
Select item 870465	NM_001375524.1(TRRAP):c.3128C>T (p.Ala1043Val)	TRRAP (A1043V)	Single nucleotide variant (missense variant)	Developmental delay with or without dysmorphic facies and autism	GPathogenic
Select item 53529	NM_000492.4(CFTR):c.2620-26A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GUncertain significance
Select item 495917	NM_000492.4(CFTR):c.2878C>T (p.Pro960Ser)	CFTR (P960S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 13975	NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)	BRAF (L485F +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 148273	GRCh38/hg38 7q35(chr7:146649010-146778666)x1	CNTNAP2	Copy number loss	See cases	GLikely pathogenic
Select item 160883	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 2585331	NM_017662.5(TRPM6):c.2189_2197del (p.Thr730_Trp733delinsArg)	TRPM6	Deletion (inframe_indel)	Intestinal hypomagnesemia 1	GUncertain significance
Select item 127538	NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)	FANCC (C10Y)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 982458	NC_000009.12:g.127814980_127830815del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic

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