ClinVar for Gene (Select 200150) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 116

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3214673	NM_001372062.1(PLD5):c.557T>C (p.Val186Ala)	PLD5 (V124A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214672	NM_001372062.1(PLD5):c.503G>A (p.Arg168His)	PLD5 (R168H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214671	NM_001372062.1(PLD5):c.443A>C (p.Asp148Ala)	PLD5 (D56A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214670	NM_001372062.1(PLD5):c.265G>C (p.Val89Leu)	PLD5 (V27L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214668	NM_001372062.1(PLD5):c.137A>C (p.Gln46Pro)	PLD5 (Q46P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685921	GRCh37/hg19 1q43(chr1:241953098-242505759)x1	EXO1, MAP1LC3C +2 more	Copy number loss	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2640262	GRCh37/hg19 1q43(chr1:241815787-242287967)x3	EXO1, MAP1LC3C +2 more	Copy number gain	not provided	GUncertain significance
Select item 2640211	NM_001372062.1(PLD5):c.220C>T (p.Leu74=)	PLD5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2614933	NM_001372062.1(PLD5):c.1030G>C (p.Val344Leu)	PLD5 (V282L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582786	GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1	ADSS2, AHCTF1 +118 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579277	GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1	ADSS2, AKT3 +73 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2534440	NM_001372062.1(PLD5):c.45G>C (p.Glu15Asp)	PLD5 (E15D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2481322	NM_001372062.1(PLD5):c.280G>A (p.Glu94Lys)	PLD5 (E94K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427727	NC_000001.10:g.(?_241661128)_(244218672_?)del	AKT3, CEP170 +10 more	Deletion	not provided	GUncertain significance
Select item 2376626	NM_001372062.1(PLD5):c.73C>T (p.Arg25Cys)	PLD5 (R25C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2369114	NM_001372062.1(PLD5):c.1009A>G (p.Lys337Glu)	PLD5 (K129E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346780	NM_001372062.1(PLD5):c.1606G>A (p.Val536Ile)	PLD5 (V328I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343273	NM_001372062.1(PLD5):c.637G>A (p.Ala213Thr)	PLD5 (A213T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324683	NM_001372062.1(PLD5):c.1103G>A (p.Arg368Lys)	PLD5 (R160K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308125	NM_001372062.1(PLD5):c.1436A>G (p.Asn479Ser)	PLD5 (N271S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284231	NM_001372062.1(PLD5):c.434A>G (p.Lys145Arg)	PLD5 (K53R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276696	NM_001372062.1(PLD5):c.1442G>A (p.Ser481Asn)	PLD5 (S419N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268344	NM_001372062.1(PLD5):c.227G>T (p.Cys76Phe)	PLD5 (C14F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236500	NM_001372062.1(PLD5):c.1136G>A (p.Arg379Gln)	PLD5 (R287Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225180	NM_001372062.1(PLD5):c.1579G>A (p.Asp527Asn)	PLD5 (D527N +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809364	GRCh37/hg19 1q43(chr1:242534486-242646475)x1	PLD5	Copy number loss	not provided	GUncertain significance
Select item 1808930	GRCh37/hg19 1q43-44(chr1:242619665-244705582)x4	ADSS2, AKT3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1807890	GRCh37/hg19 1q43(chr1:242403224-242512725)x1	PLD5	Copy number loss	not provided	GUncertain significance
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1705941	GRCh37/hg19 1q43(chr1:240857677-243316822)x3	CEP170, CHML +8 more	Copy number gain	Autism	GUncertain significance
Select item 1341309	GRCh37/hg19 1q43(chr1:240857677-243316822)x3	CEP170, CHML +8 more	Copy number gain	not provided	GUncertain significance
Select item 1047876	GRCh37/hg19 1q43-44(chr1:240554955-247342593)	AHCTF1, AKT3 +31 more	Copy number loss	Cerebellar vermis hypoplasia +5 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 831714	NC_000001.10:g.(?_241661108)_(242431558_?)del	CHML, EXO1 +6 more	Deletion	Fumarase deficiency	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814191	GRCh37/hg19 1q43-44(chr1:242483182-245087048)x1	ADSS2, AKT3 +9 more	Copy number loss	not provided	GPathogenic
Select item 814190	GRCh37/hg19 1q43(chr1:242200571-242466974)x1	PLD5	Copy number loss	not provided	GUncertain significance
Select item 689438	Single allele	CHML, CHRM3 +12 more	Deletion	Hereditary leiomyomatosis and renal cell cancer +1 more	GPathogenic
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 660672	NC_000001.11:g.(?_242268256)_(243843190_?)del	LOC122152353, PLD5 +15 more	Deletion	Senior-Loken syndrome 7 +1 more	GPathogenic
Select item 638140	GRCh37/hg19 1q43(chr1:242292690-243094146)x4	PLD5	Copy number gain	See cases	GLikely benign
Select item 635893	Single allele	AKT3, CEP170 +13 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 625615	GRCh37/hg19 1q43-44(chr1:242150334-246518362)	ADSS2, AKT3 +13 more	Copy number loss	not provided	GPathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565240	GRCh37/hg19 1q43(chr1:240958055-243698867)x3	AKT3, CEP170 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442726	GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1	ADSS2, AHCTF1 +35 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 442179	GRCh37/hg19 1q43(chr1:242401835-243027981)x1	PLD5	Copy number loss	See cases	GLikely benign
Select item 441937	GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1	ACTN2, ADSS2 +94 more	Copy number loss	See cases	GPathogenic
Select item 441889	GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4	ADSS2, AHCTF1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 395294	GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3	ADSS2, CATSPERE +70 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	GCSAML, GGPS1 +114 more	Copy number gain	See cases	GPathogenic
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic
Select item 253578	GRCh37/hg19 1q43-44(chr1:242357208-246378823)x1	ADSS2, AKT3 +12 more	Copy number loss	See cases	GPathogenic
Select item 243062	Single allele	AKT3, AKT3-IT1 +33 more	Deletion	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 221688	GRCh38/hg38 1q43(chr1:242366167-242391262)x1	PLD5	Copy number loss	Premature ovarian failure	GBenign
Select item 155665	GRCh38/hg38 1q43(chr1:241820063-242545979)x1	BECN2, EXO1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +282 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 153226	GRCh38/hg38 1q43(chr1:239288025-242458053)x1	BECN2, CHML +35 more	Copy number loss	See cases	GPathogenic
Select item 152780	GRCh38/hg38 1q43(chr1:242137482-242278796)x1	LOC129932891, PLD5	Copy number loss	See cases	GUncertain significance
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +243 more	Copy number loss	See cases	GPathogenic
Select item 149180	GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3	ADSS2, AKT3 +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 148644	GRCh38/hg38 1q43(chr1:242166764-243027799)x3	LOC122152350, LOC126806071 +4 more	Copy number gain	See cases	GLikely benign
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	LOC110121264, LOC110121265 +301 more	Copy number loss	See cases	GPathogenic
Select item 148475	GRCh38/hg38 1q43(chr1:242166764-242957825)x1	LOC122152350, LOC126806071 +3 more	Copy number loss	See cases	GUncertain significance
Select item 148403	GRCh38/hg38 1q43(chr1:242475494-243242152)x3	CEP170, LINC01347 +4 more	Copy number gain	See cases	GLikely benign
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +272 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 147285	GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3	ADSS2, AKT3 +87 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 60157	GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1	ADSS2, AKT3 +73 more	Copy number loss	See cases	GPathogenic
Select item 60156	GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1	ADSS2, AKT3 +70 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	LOC129932958, LOC129932959 +253 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 2