ClinVar for Gene (Select 55326) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276295	NM_018361.5(AGPAT5):c.22C>T (p.His8Tyr)	AGPAT5, LOC129999788 (H8Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3096544	NM_018361.5(AGPAT5):c.952A>G (p.Ile318Val)	AGPAT5 (I318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096537	NM_018361.5(AGPAT5):c.86T>A (p.Val29Glu)	AGPAT5 (V29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096528	NM_018361.5(AGPAT5):c.781C>T (p.His261Tyr)	AGPAT5 (H261Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096522	NM_018361.5(AGPAT5):c.742A>G (p.Thr248Ala)	AGPAT5 (T248A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096515	NM_018361.5(AGPAT5):c.61C>G (p.Leu21Val)	AGPAT5, LOC129999788 (L21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096511	NM_018361.5(AGPAT5):c.5T>C (p.Leu2Pro)	AGPAT5, LOC129999788 (L2P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096508	NM_018361.5(AGPAT5):c.549A>T (p.Lys183Asn)	AGPAT5 (K183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096502	NM_018361.5(AGPAT5):c.491C>G (p.Thr164Ser)	AGPAT5 (T164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096491	NM_018361.5(AGPAT5):c.342T>A (p.His114Gln)	AGPAT5 (H114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096479	NM_018361.5(AGPAT5):c.199G>A (p.Glu67Lys)	AGPAT5, LOC129999789 (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096475	NM_018361.5(AGPAT5):c.183G>T (p.Met61Ile)	AGPAT5, LOC129999789 (M61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096472	NM_018361.5(AGPAT5):c.1015G>A (p.Asp339Asn)	AGPAT5 (D339N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063002	GRCh37/hg19 8p23.2-23.1(chr8:5908975-6631197)x1	AGPAT5, ANGPT2 +1 more	Copy number loss	not specified	GPathogenic
Select item 2685296	GRCh37/hg19 8p23.1(chr8:6566202-6999114)x1	DEFA1, DEFA1B +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685283	GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1	DEFB104A, DEFB104B +39 more	Copy number loss	not provided	GPathogenic
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB105A, DEFB107B +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 more	Copy number loss	not provided	GPathogenic
Select item 2685280	GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1	CLN8, CSMD1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2684521	GRCh37/hg19 8p23.2-23.1(chr8:6016801-6999114)x3	AGPAT5, ANGPT2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2684515	GRCh37/hg19 8p23.3-23.1(chr8:158049-7044046)x3	AGPAT5, ANGPT2 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2671622	Single allele	AGPAT5, ANGPT2 +22 more	Deletion	not provided	GPathogenic
Select item 2580354	GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1	TDRP, ZNF596 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 more	Copy number loss	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2491589	NM_018361.5(AGPAT5):c.304G>T (p.Ala102Ser)	AGPAT5 (A102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382810	NM_018361.5(AGPAT5):c.850C>T (p.Arg284Cys)	AGPAT5 (R284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376817	NM_018361.5(AGPAT5):c.319A>G (p.Ile107Val)	AGPAT5 (I107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321861	NM_018361.5(AGPAT5):c.347G>A (p.Arg116His)	AGPAT5 (R116H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303966	NM_018361.5(AGPAT5):c.773T>C (p.Ile258Thr)	AGPAT5 (I258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289436	NM_018361.5(AGPAT5):c.427C>T (p.Arg143Cys)	AGPAT5 (R143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282216	NM_018361.5(AGPAT5):c.725G>C (p.Arg242Thr)	AGPAT5 (R242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255547	NM_018361.5(AGPAT5):c.547A>G (p.Lys183Glu)	AGPAT5 (K183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245896	NM_018361.5(AGPAT5):c.733C>G (p.Pro245Ala)	AGPAT5 (P245A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238019	NM_018361.5(AGPAT5):c.55G>C (p.Val19Leu)	AGPAT5, LOC129999788 (V19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236846	NM_018361.5(AGPAT5):c.308A>G (p.Asp103Gly)	AGPAT5 (D103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231181	NM_018361.5(AGPAT5):c.941C>A (p.Ser314Tyr)	AGPAT5 (S314Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224696	NM_018361.5(AGPAT5):c.367T>A (p.Leu123Ile)	AGPAT5 (L123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215719	NM_018361.5(AGPAT5):c.545C>T (p.Thr182Ile)	AGPAT5 (T182I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808721	GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 1808083	GRCh37/hg19 8p23.1(chr8:6284373-9047178)x3	AGPAT5, ANGPT2 +33 more	Copy number gain	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1708195	GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1	AGPAT5, ANGPT2 +56 more	Copy number loss	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703666	GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413)	AGPAT5, ANGPT2 +46 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1340880	GRCh37/hg19 8p23.1(chr8:6452152-6651911)x1	AGPAT5, MCPH1	Copy number loss	not provided	GLikely benign
Select item 1339975	GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 1330178	GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1	FBXO25, USP17L4 +22 more	Copy number loss	Single transverse palmar crease +6 more	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980862	GRCh37/hg19 8p23.2-23.1(chr8:5950546-6703513)x1	AGPAT5, ANGPT2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 979225	GRCh37/hg19 8p23.3-23.1(chr8:411691-6999114)x1	AGPAT5, ANGPT2 +18 more	Copy number loss	not provided	GPathogenic
Select item 974794	GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1	DEFB106B, XKR5 +57 more	Copy number loss	Intellectual disability +1 more	GPathogenic
Select item 815080	GRCh37/hg19 8p23.2-23.1(chr8:5887223-6999114)x1	XKR5, DEFA1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 815066	GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1	AGPAT5, ANGPT2 +43 more	Copy number loss	not provided	GPathogenic
Select item 815065	GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3	AGPAT5, ANGPT2 +39 more	Copy number gain	not provided	GPathogenic
Select item 813835	GRCh37/hg19 8p23.2-23.1(chr8:2308926-6939296)x3	DEFA4, AGPAT5 +10 more	Copy number gain	Short stature +1 more	GLikely pathogenic
Select item 765348	NM_018361.5(AGPAT5):c.495+9C>A	AGPAT5	Single nucleotide variant	not provided	GLikely benign
Select item 689009	GRCh37/hg19 8p23.1(chr8:6287703-6619261)x3	AGPAT5, ANGPT2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688520	GRCh37/hg19 8p23.3-23.1(chr8:158048-6828766)x1	AGPAT5, ANGPT2 +15 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687060	GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	USP17L4, USP17L7 +75 more	Copy number loss	not provided	GPathogenic
Select item 686293	GRCh37/hg19 8p23.3-23.1(chr8:158048-6984438)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 685634	GRCh37/hg19 8p23.3-23.1(chr8:158048-6969688)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 685445	GRCh37/hg19 8p23.3-23.1(chr8:158048-6940661)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 684955	GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1	AGPAT5, ANGPT2 +43 more	Copy number loss	not provided	GPathogenic
Select item 626289	Single allele	AGPAT5, ANGPT2 +19 more	Deletion	not provided	GLikely pathogenic
Select item 625670	GRCh37/hg19 8p23.3-23.1(chr8:184617-6804328)	AGPAT5, ANGPT2 +15 more	Copy number gain	not provided	GPathogenic
Select item 625669	GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)	AGPAT5, ANGPT2 +37 more	Copy number loss	Tetralogy of Fallot	GPathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 624505	GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1	AGPAT5, ANGPT2 +36 more	Copy number loss	not provided	GLikely pathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563551	GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	LONRF1, NEIL2 +76 more	Copy number gain	not provided	GPathogenic
Select item 563550	GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	DEFB105A, USP17L1 +75 more	Copy number gain	not provided	GPathogenic
Select item 563548	GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2	MTMR9, MYOM2 +73 more	Copy number gain	not provided	GPathogenic
Select item 563547	GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 563545	GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3	AGPAT5, ANGPT2 +44 more	Copy number gain	not provided	GPathogenic
Select item 563543	GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 523290	GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)	AGPAT5, ANGPT2 +15 more	Copy number loss	Autism +7 more	GPathogenic
Select item 523289	GRCh37/hg19 8p23.3-23.1(chr8:191530-6644251)	ERICH1, FBXO25 +11 more	Copy number loss	Intellectual disability	GPathogenic
Select item 443996	GRCh37/hg19 8p23.3-23.1(chr8:158048-7044046)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	See cases	GPathogenic
Select item 443971	GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x3	AGPAT5, ANGPT2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 443921	GRCh37/hg19 8p23.3-23.1(chr8:158048-9749574)x1	AGPAT5, ANGPT2 +44 more	Copy number loss	See cases	GPathogenic
Select item 442870	GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1	AGPAT5, ANGPT2 +73 more	Copy number loss	See cases	GLikely pathogenic
Select item 442827	GRCh37/hg19 8p23.3-23.1(chr8:158048-6982980)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 430635	NM_018361.5(AGPAT5):c.926G>A (p.Gly309Glu)	AGPAT5 (G309E)	Single nucleotide variant (missense variant)	Keloid formation	GBenign
Select item 395298	GRCh37/hg19 8p23.1(chr8:6617436-6686708)x3	AGPAT5, XKR5	Copy number gain	See cases	GLikely benign
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394656	GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4	AGPAT5, ANGPT2 +86 more	Copy number gain	See cases	GPathogenic
Select item 394635	GRCh37/hg19 8p23.3-23.1(chr8:163166-6735327)x1	AGPAT5, ANGPT2 +13 more	Copy number loss	See cases	GPathogenic
Select item 394377	GRCh37/hg19 8p23.3-23.1(chr8:190822-6735327)x1	AGPAT5, ANGPT2 +13 more	Copy number loss	See cases	GPathogenic
Select item 253407	GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3	DEFB135, DEFB136 +73 more	Copy number gain	See cases	GPathogenic

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