ClinVar for Gene (Select 5168) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341517	NM_001040092.3(ENPP2):c.1164A>G (p.Gly388=)	ENPP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3275485	NM_001040092.3(ENPP2):c.1607G>T (p.Arg536Leu)	ENPP2 (R532L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275484	NM_001040092.3(ENPP2):c.1546C>T (p.Leu516Phe)	ENPP2 (L512F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275483	NM_001040092.3(ENPP2):c.752A>C (p.Asn251Thr)	ENPP2 (N247T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275482	NM_001040092.3(ENPP2):c.1254T>G (p.Asp418Glu)	ENPP2 (D414E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275481	NM_001040092.3(ENPP2):c.695C>T (p.Ser232Leu)	ENPP2 (S228L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275480	NM_001040092.3(ENPP2):c.223C>T (p.Arg75Cys)	ENPP2 (R71C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275479	NM_001040092.3(ENPP2):c.2068C>T (p.Pro690Ser)	ENPP2 (P715S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275477	NM_001040092.3(ENPP2):c.1049G>A (p.Arg350Gln)	ENPP2 (R402Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275476	NM_001040092.3(ENPP2):c.1594A>C (p.Asn532His)	ENPP2 (N584H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245509	NC_000008.10:g.(?_116426251)_(120844804_?)del	CCN3, AARD +14 more	Deletion	Trichorhinophalangeal syndrome, type III +1 more	GPathogenic
Select item 3245404	NC_000008.10:g.(?_116426251)_(120844804_?)dup	AARD, CCN3 +14 more	Duplication	Trichorhinophalangeal syndrome, type III +2 more	GUncertain significance
Select item 3245402	NC_000008.10:g.(?_118649470)_(122282519_?)del	CCN3, COL14A1 +12 more	Deletion	Multiple congenital exostosis	GPathogenic
Select item 3088987	NM_001040092.3(ENPP2):c.968C>T (p.Pro323Leu)	ENPP2 (P323L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088986	NM_001040092.3(ENPP2):c.965G>T (p.Gly322Val)	ENPP2 (G318V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088985	NM_001040092.3(ENPP2):c.79G>A (p.Gly27Arg)	ENPP2 (G27R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088984	NM_001040092.3(ENPP2):c.554T>A (p.Val185Asp)	ENPP2 (V185D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088983	NM_001040092.3(ENPP2):c.539A>G (p.Lys180Arg)	ENPP2 (K176R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088982	NM_001040092.3(ENPP2):c.464C>T (p.Ala155Val)	ENPP2 (A155V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088981	NM_001040092.3(ENPP2):c.458A>G (p.Lys153Arg)	ENPP2 (K149R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088980	NM_001040092.3(ENPP2):c.355C>G (p.His119Asp)	ENPP2 (H115D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088979	NM_001040092.3(ENPP2):c.2557A>G (p.Lys853Glu)	ENPP2 (K853E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088978	NM_001040092.3(ENPP2):c.196C>T (p.Leu66Phe)	ENPP2 (L62F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088977	NM_001040092.3(ENPP2):c.1777G>A (p.Glu593Lys)	ENPP2 (E589K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088975	NM_001040092.3(ENPP2):c.16T>G (p.Ser6Ala)	ENPP2 (S6A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088974	NM_001040092.3(ENPP2):c.974T>C (p.Met325Thr)	ENPP2 (M321T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	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 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2658779	NM_001040092.3(ENPP2):c.1059C>T (p.Asn353=)	ENPP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658778	NM_001040092.3(ENPP2):c.1781-1341A>C	ENPP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2609630	NM_001040092.3(ENPP2):c.559C>A (p.Pro187Thr)	ENPP2 (P187T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605208	NM_001040092.3(ENPP2):c.2311A>G (p.Ile771Val)	ENPP2 (I771V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603897	NM_001040092.3(ENPP2):c.1651C>G (p.Pro551Ala)	ENPP2 (P547A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588093	NM_001040092.3(ENPP2):c.1636G>C (p.Glu546Gln)	ENPP2 (E542Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580301	GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1	ANXA13, ATAD2 +41 more	Copy number loss	Exostoses, multiple, type 1	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2559661	NM_001040092.3(ENPP2):c.718G>T (p.Ala240Ser)	ENPP2 (A240S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538732	NM_001040092.3(ENPP2):c.149C>A (p.Ser50Tyr)	ENPP2 (S46Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524727	NM_001040092.3(ENPP2):c.217G>A (p.Asp73Asn)	ENPP2 (D73N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520066	NM_001040092.3(ENPP2):c.1627A>T (p.Thr543Ser)	ENPP2 (T539S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517556	NM_001040092.3(ENPP2):c.2381T>C (p.Phe794Ser)	ENPP2 (F819S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515160	NM_001040092.3(ENPP2):c.1048C>T (p.Arg350Trp)	ENPP2 (R350W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509364	NM_001040092.3(ENPP2):c.1446C>A (p.Asn482Lys)	ENPP2 (N482K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486032	NM_001040092.3(ENPP2):c.754C>T (p.His252Tyr)	ENPP2 (H248Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482863	NM_001040092.3(ENPP2):c.973-2026T>G	ENPP2 (H363Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480068	NM_001040092.3(ENPP2):c.323G>A (p.Cys108Tyr)	ENPP2 (C108Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470003	NM_001040092.3(ENPP2):c.429T>A (p.His143Gln)	ENPP2 (H143Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424480	NC_000008.10:g.(?_117859739)_(120844804_?)del	AARD, CCN3 +10 more	Deletion	not provided	GPathogenic
Select item 2424479	NC_000008.10:g.(?_118811951)_(120844804_?)dup	CCN3, COLEC10 +6 more	Duplication	not provided	GUncertain significance
Select item 2422394	NC_000008.10:g.(?_117647788)_(120797526_?)dup	AARD, CCN3 +12 more	Duplication	Multiple congenital exostosis	GUncertain significance
Select item 2390470	NM_001040092.3(ENPP2):c.1819C>T (p.Arg607Trp)	ENPP2 (R632W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383000	NM_001040092.3(ENPP2):c.1212C>A (p.Asp404Glu)	ENPP2 (D400E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370109	NM_001040092.3(ENPP2):c.295C>T (p.Arg99Cys)	ENPP2 (R99C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369232	NM_001040092.3(ENPP2):c.365A>G (p.Glu122Gly)	ENPP2 (E122G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351721	NM_001040092.3(ENPP2):c.1941C>G (p.Asp647Glu)	ENPP2 (D668E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2351217	NM_001040092.3(ENPP2):c.1753C>T (p.Arg585Trp)	ENPP2 (R637W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341165	NM_001040092.3(ENPP2):c.2396G>A (p.Arg799Gln)	ENPP2 (R851Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336715	NM_001040092.3(ENPP2):c.2308A>G (p.Ser770Gly)	ENPP2 (S791G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315934	NM_001040092.3(ENPP2):c.338A>G (p.Asn113Ser)	ENPP2 (N109S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284186	NM_001040092.3(ENPP2):c.425C>T (p.Ser142Leu)	ENPP2 (S138L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274340	NM_001040092.3(ENPP2):c.2225A>C (p.Asp742Ala)	ENPP2 (D742A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250687	NM_001040092.3(ENPP2):c.1808C>A (p.Ala603Glu)	ENPP2 (A603E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249828	NM_001040092.3(ENPP2):c.2240A>G (p.His747Arg)	ENPP2 (H768R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232420	NM_001040092.3(ENPP2):c.973-2023G>C	ENPP2 (R364S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216097	NM_001040092.3(ENPP2):c.2483G>A (p.Arg828His)	ENPP2 (R849H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213952	NM_001040092.3(ENPP2):c.2251G>A (p.Asp751Asn)	ENPP2 (D751N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209667	NM_001040092.3(ENPP2):c.296G>A (p.Arg99His)	ENPP2 (R95H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808876	GRCh37/hg19 8q24.11-24.12(chr8:118492577-121075880)x3	CCN3, COLEC10 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
Select item 1807843	GRCh37/hg19 8q24.11-24.12(chr8:118645068-121684174)x1	CCN3, COL14A1 +12 more	Copy number loss	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527461	GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)	AARD, ABRA +28 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979849	GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3	AARD, ANGPT1 +35 more	Copy number gain	not provided	GPathogenic
Select item 815162	GRCh37/hg19 8q24.12(chr8:120577149-120973977)x3	TAF2, DSCC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815154	GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1	AARD, CCN3 +23 more	Copy number loss	not provided	GPathogenic
Select item 789299	NM_001040092.3(ENPP2):c.973-2122T>C	ENPP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 782143	NM_001040092.3(ENPP2):c.2530C>T (p.Arg844Cys)	ENPP2 (R869C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 777833	NM_001040092.3(ENPP2):c.2264+7G>A	ENPP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770575	NM_001040092.3(ENPP2):c.973-2129G>A	ENPP2 (G329D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 714513	NM_001040092.3(ENPP2):c.480-4T>G	ENPP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 714512	NM_001040092.3(ENPP2):c.1730A>G (p.Asn577Ser)	ENPP2 (N573S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 689255	GRCh37/hg19 8q24.12(chr8:120572884-120976352)x3	DEPTOR, DSCC1 +2 more	Copy number gain	not provided	GUncertain significance
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 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 599306	Single allele	PCAT1, POU5F1B +52 more	Deletion	Trichorhinophalangeal dysplasia type I	GPathogenic
Select item 587542	NM_001040092.3(ENPP2):c.2395C>T (p.Arg799Trp)	ENPP2 (R851W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 563549	GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1	AARD, CCN3 +29 more	Copy number loss	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	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 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic

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