ClinVar for Gene (Select 10370) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145174	NM_006079.5(CITED2):c.80G>C (p.Arg27Pro)	CITED2 (R32P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145173	NM_006079.5(CITED2):c.70C>T (p.Pro24Ser)	CITED2 (P24S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145172	NM_006079.5(CITED2):c.495C>A (p.Ser165Arg)	CITED2, LOC129997307 (S165R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145171	NM_006079.5(CITED2):c.277T>C (p.Phe93Leu)	CITED2 (F93L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145170	NM_006079.5(CITED2):c.271G>T (p.Ala91Ser)	CITED2 (A91S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145169	NM_006079.5(CITED2):c.265C>G (p.Pro89Ala)	CITED2 (P89A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064915	NM_006079.5(CITED2):c.754G>T (p.Glu252Ter)	CITED2 (E252* +1 more)	Single nucleotide variant (nonsense)	Atrial septal defect 8	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3054525	NM_006079.5(CITED2):c.-8-187T>C	CITED2, LOC129997309	Single nucleotide variant (5 prime UTR variant +1 more)	CITED2-related condition	GLikely benign
Select item 3054446	NM_006079.5(CITED2):c.510_536dup (p.Gly180_Ser181insGlySerSerThrProGlyGlySerGly)	CITED2, LOC129997307	Duplication (inframe insertion)	CITED2-related condition	GUncertain significance
Select item 3025178	NM_006079.5(CITED2):c.501C>T (p.Pro167=)	CITED2, LOC129997307	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671924	NM_006079.5(CITED2):c.388C>T (p.Pro130Ser)	CITED2 (P130S +1 more)	Single nucleotide variant (missense variant)	Ventricular septal defect 2	GUncertain significance
Select item 2635092	NM_006079.5(CITED2):c.517_555dup (p.Gly185_Gly186insSerSerThrProGlyGlySerGlySerSerSerGlyGly)	CITED2, LOC129997307	Duplication (inframe_insertion)	CITED2-related condition	GUncertain significance
Select item 2632780	NM_006079.5(CITED2):c.446C>T (p.Thr149Ile)	CITED2 (T149I +1 more)	Single nucleotide variant (missense variant)	CITED2-related condition	GUncertain significance
Select item 2631483	NM_006079.5(CITED2):c.-8-179G>C	CITED2, LOC129997309	Single nucleotide variant (intron variant +1 more)	CITED2-related condition	GUncertain significance
Select item 2631257	NM_006079.5(CITED2):c.73G>C (p.Ala25Pro)	CITED2 (A25P +1 more)	Single nucleotide variant (missense variant)	CITED2-related condition	GUncertain significance
Select item 2618507	NM_006079.5(CITED2):c.589G>C (p.Gly197Arg)	CITED2 (G197R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582057	NM_006079.5(CITED2):c.430_435del (p.His144_Gln145del)	CITED2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2581685	NM_006079.5(CITED2):c.28C>T (p.His10Tyr)	CITED2 (H10Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577067	NM_006079.5(CITED2):c.777C>T (p.Phe259=)	CITED2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2575798	NM_006079.5(CITED2):c.323G>T (p.Gly108Val)	CITED2 (G108V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572714	NM_006079.5(CITED2):c.295A>C (p.Met99Leu)	CITED2 (M104L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2534115	NM_006079.5(CITED2):c.608C>T (p.Ala203Val)	CITED2 (A203V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526457	NM_006079.5(CITED2):c.383C>T (p.Pro128Leu)	CITED2 (P133L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472919	NM_006079.5(CITED2):c.63C>A (p.His21Gln)	CITED2 (H26Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468971	NM_006079.5(CITED2):c.562G>A (p.Gly188Ser)	CITED2, LOC129997307 (G188S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446089	NM_006079.5(CITED2):c.19G>C (p.Ala7Pro)	CITED2 (A12P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440091	NM_006079.5(CITED2):c.694G>A (p.Val232Met)	CITED2 (V232M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440090	NM_006079.5(CITED2):c.421G>A (p.Ala141Thr)	CITED2 (A141T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2328334	NM_006079.5(CITED2):c.193G>T (p.Ala65Ser)	CITED2, LOC129997308 (A70S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308259	NM_006079.5(CITED2):c.686T>C (p.Met229Thr)	CITED2 (M229T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294398	NM_006079.5(CITED2):c.166A>G (p.Ile56Val)	CITED2, LOC129997308 (I61V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238325	NM_006079.5(CITED2):c.296T>C (p.Met99Thr)	CITED2 (M104T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804911	NM_006079.5(CITED2):c.119AGC[3] (p.Gln43del)	CITED2 (Q43del +1 more)	Microsatellite (inframe_deletion)	Atrial septal defect 8	GUncertain significance
Select item 1702830	NM_006079.5(CITED2):c.80G>T (p.Arg27Leu)	CITED2 (R27L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684895	NM_006079.5(CITED2):c.574_579del (p.Ser192_Gly193del)	CITED2, LOC129997307	Deletion (inframe_deletion)	CITED2-related condition +1 more	GBenign/Likely benign
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 1527297	GRCh37/hg19 6q24.1(chr6:139093282-140660265)	ABRACL, CCDC28A +5 more	Copy number gain	not specified	GUncertain significance
Select item 1334831	NM_006079.5(CITED2):c.524C>T (p.Thr175Ile)	CITED2, LOC129997307 (T175I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1314370	NM_006079.5(CITED2):c.671A>G (p.Asp224Gly)	CITED2 (D224G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309282	NM_006079.5(CITED2):c.682_684del (p.Leu228del)	CITED2 (L228del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1277671	NM_006079.5(CITED2):c.-24A>T	CITED2, LOC129997310	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1231089	NM_006079.5(CITED2):c.21C>A (p.Ala7=)	CITED2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1228566	NM_006079.5(CITED2):c.-8-97C>T	CITED2, LOC129997309	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	ABRACL, AHI1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1174691	NM_006079.5(CITED2):c.542G>C (p.Ser181Thr)	CITED2, LOC129997307 (S181T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1050048	NM_006079.5(CITED2):c.13A>G (p.Met5Val)	CITED2 (M10V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033069	NM_006079.5(CITED2):c.114CCA[1] (p.His39del)	CITED2 (H39del +1 more)	Microsatellite (inframe_deletion)	CITED2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 972948	GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1	ABRACL, ARFGEF3 +23 more	Copy number loss	not provided	Gnot provided
Select item 930141	NM_006079.5(CITED2):c.382C>T (p.Pro128Ser)	CITED2 (P133S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 804240	NM_006079.5(CITED2):c.701A>C (p.Glu234Ala)	CITED2 (E234A +1 more)	Single nucleotide variant (missense variant)	Atrial septal defect 8	GLikely pathogenic
Select item 787835	NM_006079.5(CITED2):c.12T>C (p.His4=)	CITED2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786539	NM_006079.5(CITED2):c.657C>T (p.Asp219=)	CITED2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776166	NM_006079.5(CITED2):c.510G>C (p.Ser170=)	CITED2, LOC129997307	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771866	NM_006079.5(CITED2):c.138C>T (p.His46=)	CITED2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746097	NM_006079.5(CITED2):c.27C>T (p.Asn9=)	CITED2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733119	NM_006079.5(CITED2):c.627C>T (p.Pro209=)	CITED2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717442	NM_006079.5(CITED2):c.582C>T (p.Gly194=)	CITED2, LOC129997307	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 668342	NM_006079.5(CITED2):c.574A>G (p.Ser192Gly)	CITED2, LOC129997307 (S192G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 560611	NM_006079.5(CITED2):c.479A>T (p.His160Leu)	CITED2 (H160L +1 more)	Single nucleotide variant (missense variant)	CITED2-related condition +1 more	GLikely benign
Select item 453201	NM_006079.5(CITED2):c.74C>T (p.Ala25Val)	CITED2 (A25V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 425394	NM_006079.5(CITED2):c.788AGC[3] (p.Gln264dup)	CITED2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 148927	GRCh38/hg38 6q24.1(chr6:139002616-140199336)x3	ABRACL, CITED2 +42 more	Copy number gain	See cases	GUncertain significance
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 6723	NM_006079.5(CITED2):c.581GCGGCA[2] (p.196SG[1])	CITED2	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 6722	CITED2, 27-BP INS, NT534	CITED2	Insertion	Atrial septal defect 8	GPathogenic
Select item 6721	NM_006079.5(CITED2):c.510_536del (p.163GSSTPGGSG[1])	CITED2, LOC129997307	Deletion (inframe_deletion)	Ventricular septal defect 2	GPathogenic

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Links from Gene

Items: 76