gi|4063576|gb|AAD03253.1| - ClinVar - NCBI

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The following terms were not found in ClinVar: 4063576, AAD03253.1.

	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)	not provided +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 870372	NM_017825.3(ADPRS):c.639_642del (p.Lys213fs)	ADPRS (K213fs)	Deletion (frameshift variant)	Abdominal distention +8 more	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)	not provided +2 more	GPathogenic/Likely pathogenic
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 1339057	NM_001035.3(RYR2):c.13900G>A (p.Val4634Ile)	RYR2 (V4634I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2	GUncertain significance
Select item 917844	NM_000384.3(APOB):c.10171del (p.Arg3391fs)	APOB (R3391fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 496312	NM_005633.4(SOS1):c.755T>C (p.Ile252Thr)	SOS1 (I252T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2585625	NM_020458.4(TTC7A):c.517+1G>A	TTC7A	Single nucleotide variant (splice donor variant)	Gastrointestinal defects and immunodeficiency syndrome 1	GLikely pathogenic
Select item 89357	NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	MSH6 (R1076C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 89488	NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)	MSH6 (A1190fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 3971	NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)	ALMS1 (T3592fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 620477	NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter)	ALMS1 (Q3817* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 550853	NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs)	ALMS1 (R4134fs +1 more)	Microsatellite (frameshift variant)	Alstrom syndrome +2 more	GUncertain significance
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 220145	NM_000249.4(MLH1):c.44T>C (p.Val15Ala)	MLH1 (V15A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 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 2585048	NM_001371395.1(USP53):c.976G>A (p.Gly326Arg)	USP53 (G276R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 996074	NM_181523.3(PIK3R1):c.1392_1403del (p.Asp464_Tyr467del)	PIK3R1	Deletion (inframe_deletion)	Overgrowth syndrome	GLikely pathogenic
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 209196	NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)	TNXB (V3219M +1 more)	Single nucleotide variant (missense variant)	See cases +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 434027	NM_000535.7(PMS2):c.538-1G>C	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	not provided +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 21515	NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)	SLC25A13 (R184*)	Single nucleotide variant (nonsense +1 more)	Citrullinemia, type II, adult-onset +3 more	GPathogenic
Select item 53529	NM_000492.4(CFTR):c.2620-26A>G	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	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 979021	NM_000237.3(LPL):c.929G>A (p.Cys310Tyr)	LPL (C310Y)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related	GLikely pathogenic
Select item 917845	NM_178172.6(GPIHBP1):c.230G>A (p.Cys77Tyr)	GPIHBP1 (C77Y)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type 1D	GLikely pathogenic
Select item 127538	NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)	FANCC (C10Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GConflicting classifications of pathogenicity
Select item 982458	NC_000009.12:g.127814980_127830815del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 982457	NC_000009.12:g.127814982_127820052del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 417397	NC_000009.12:g.(?_127815012)_(127854773_?)del	ENG, LOC102723566	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 914941	NM_001114753.3(ENG):c.*586C>T	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 914942	NM_001114753.3(ENG):c.*558A>G	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 914943	NM_001114753.3(ENG):c.*534C>T	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 912984	NM_001114753.3(ENG):c.*533G>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 912985	NM_001114753.3(ENG):c.*530T>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 365076	NM_001114753.3(ENG):c.*523A>G	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 912986	NM_001114753.3(ENG):c.*492G>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 365077	NM_001114753.3(ENG):c.*491C>T	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 365078	NM_001114753.3(ENG):c.*461AACT[1]	ENG	Microsatellite (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 912987	NM_001114753.3(ENG):c.*449C>G	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 912988	NM_001114753.3(ENG):c.*438G>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 912989	NM_001114753.3(ENG):c.*424G>C	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 913354	NM_001114753.3(ENG):c.*391G>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 913355	NM_001114753.3(ENG):c.*320G>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GBenign
Select item 437433	Single allele	LOC102723566, ENG	Deletion	Telangiectasia, hereditary hemorrhagic, type 1	GPathogenic
Select item 365079	NM_001114753.3(ENG):c.*273A>C	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 365080	NM_001114753.3(ENG):c.*266G>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 365081	NM_001114753.3(ENG):c.*252C>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance
Select item 365082	NM_001114753.3(ENG):c.*150C>A	ENG	Single nucleotide variant (3 prime UTR variant)	Telangiectasia, hereditary hemorrhagic, type 1	GUncertain significance

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