ClinVar for Gene (Select 8818) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 168

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2990978	NM_003863.4(DPM2):c.93+17G>A	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2973586	NM_003863.4(DPM2):c.94-19G>C	DPM2	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2971850	NM_003863.4(DPM2):c.196+20C>T	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2956777	NM_003863.4(DPM2):c.196+18C>G	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2873390	NM_003863.4(DPM2):c.3+16T>C	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2809371	NM_003863.4(DPM2):c.196+12C>T	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2802572	NM_003863.4(DPM2):c.27G>C (p.Val9=)	DPM2	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2802571	NM_003863.4(DPM2):c.29del (p.Gly10fs)	DPM2 (G10fs)	Deletion (frameshift variant +2 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
Select item 2745894	NM_003863.4(DPM2):c.109C>T (p.Gln37Ter)	DPM2 (Q7* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
Select item 2741261	NM_003863.4(DPM2):c.94-19G>T	DPM2	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2716970	NM_003863.4(DPM2):c.93+17G>C	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2577397	NC_000009.11:g.(?_130697373)_(130700764_?)dup	DPM2	Duplication	not specified	GUncertain significance
Select item 2465765	NM_003863.4(DPM2):c.167C>T (p.Ala56Val)	DPM2 (A26V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465764	NM_003863.4(DPM2):c.166G>T (p.Ala56Ser)	DPM2 (A26S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464322	NM_003863.4(DPM2):c.125A>C (p.Lys42Thr)	DPM2 (K42T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2442789	NM_003863.4(DPM2):c.197G>A (p.Gly66Glu)	DPM2 (G36E +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely pathogenic
Select item 2198924	NM_003863.4(DPM2):c.93+5G>A	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 2154635	NM_003863.4(DPM2):c.3+14C>T	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2150778	NM_003863.4(DPM2):c.196+13C>T	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2144474	NM_003863.4(DPM2):c.65C>T (p.Thr22Ile)	DPM2 (T22I)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 2078278	NM_003863.4(DPM2):c.213_214inv (p.Val72Met)	DPM2 (V72M +1 more)	Inversion (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 2073723	NM_003863.4(DPM2):c.3+12A>T	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2064710	NM_003863.4(DPM2):c.3+15G>T	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2055488	NM_003863.4(DPM2):c.4-18G>C	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2051329	NM_003863.4(DPM2):c.212A>G (p.Tyr71Cys)	DPM2 (Y71C +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 2042661	NM_003863.4(DPM2):c.94-11C>T	DPM2	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2016811	NM_003863.4(DPM2):c.237G>A (p.Val79=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 2005414	NM_003863.4(DPM2):c.153C>A (p.Val51=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1980382	NM_003863.4(DPM2):c.100A>G (p.Ile34Val)	DPM2 (I4V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1948282	NM_003863.4(DPM2):c.8C>T (p.Thr3Met)	DPM2 (T3M)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1701582	NM_003863.4(DPM2):c.166_167delinsTT (p.Ala56Phe)	DPM2 (A26F +1 more)	Indel (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1676354	NM_003863.4(DPM2):c.196+102C>T	DPM2	Single nucleotide variant	not provided	GLikely benign
Select item 1673817	NM_003863.4(DPM2):c.94-14del	DPM2	Deletion (intron variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1662135	NM_003863.4(DPM2):c.180G>A (p.Leu60=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1644987	NM_003863.4(DPM2):c.39C>G (p.Leu13=)	DPM2	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1633321	NM_003863.4(DPM2):c.94-8G>T	DPM2	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1631877	NM_003863.4(DPM2):c.178C>T (p.Leu60=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1611082	NM_003863.4(DPM2):c.66C>A (p.Thr22=)	DPM2	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1609303	NM_003863.4(DPM2):c.196+19C>T	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1603991	NM_003863.4(DPM2):c.93+14C>T	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1597719	NM_003863.4(DPM2):c.114T>C (p.His38=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1595559	NM_003863.4(DPM2):c.3+14C>A	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1591863	NM_003863.4(DPM2):c.93+13C>A	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1556179	NM_003863.4(DPM2):c.94-18C>G	DPM2	Single nucleotide variant (intron variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1534901	NM_003863.4(DPM2):c.94-19G>A	DPM2	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1524656	NM_003863.4(DPM2):c.3+3G>A	DPM2, LOC130002675	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1500243	NM_003863.4(DPM2):c.208T>C (p.Ser70Pro)	DPM2 (S70P +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1457478	NC_000009.11:g.(?_130216807)_(130953136_?)del	AK1, BBLN +22 more	Deletion	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
Select item 1428217	NM_003863.4(DPM2):c.124A>G (p.Lys42Glu)	DPM2 (K12E +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1419961	NM_003863.4(DPM2):c.74C>G (p.Thr25Ser)	DPM2 (T25S)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1399311	NM_003863.4(DPM2):c.3+6A>G	DPM2, LOC130002675	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1397768	NM_003863.4(DPM2):c.184C>G (p.Leu62Val)	DPM2 (L32V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1382802	NM_003863.4(DPM2):c.35G>A (p.Gly12Asp)	DPM2 (G12D)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 1234407	NC_000009.12:g.127938681T>C	DPM2	Single nucleotide variant	not provided	GBenign
Select item 1217490	NM_003863.4(DPM2):c.3+99C>G	DPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217485	NM_003863.4(DPM2):c.93+60C>G	DPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200255	NM_003863.4(DPM2):c.94-47C>T	DPM2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1196032	NM_003863.4(DPM2):c.196+191C>G	DPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1161345	NM_003863.4(DPM2):c.33C>T (p.Leu11=)	DPM2	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1141609	NM_003863.4(DPM2):c.102C>T (p.Ile34=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1113106	NM_003863.4(DPM2):c.144C>T (p.Ala48=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1090519	NM_003863.4(DPM2):c.39C>T (p.Leu13=)	DPM2	Single nucleotide variant (synonymous variant +2 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 1070851	NC_000009.11:g.(?_130577951)_(130700109_?)del	AK1, DPM2 +4 more	Deletion	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 1065329	NM_003863.4(DPM2):c.173G>A (p.Gly58Asp)	DPM2 (G58D +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
Select item 1065328	NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)	DPM2 (R47* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic/Likely pathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, EEIG1 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1040140	NM_003863.4(DPM2):c.151G>A (p.Val51Ile)	DPM2 (V21I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1030718	NM_003863.4(DPM2):c.127T>C (p.Tyr43His)	DPM2 (Y13H +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1027056	NM_003863.4(DPM2):c.197-9_197-8insA	DPM2	Insertion (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 1006598	NM_003863.4(DPM2):c.108_111del (p.Gln37fs)	DPM2 (Q37fs +1 more)	Deletion (non-coding transcript variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 984763	GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1	COQ4, DNM1 +33 more	Copy number loss	Infantile epilepsy syndrome	GPathogenic
Select item 984511	NM_003863.4(DPM2):c.139del (p.Arg47fs)	DPM2 (R17fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 954735	NM_003863.4(DPM2):c.229A>G (p.Lys77Glu)	DPM2 (K47E +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 937139	NM_003863.4(DPM2):c.3+5G>A	LOC130002675, DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 915120	NM_003863.4(DPM2):c.*14A>T	DPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 915119	NM_003863.4(DPM2):c.*124G>C	DPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 915118	NM_003863.4(DPM2):c.*231C>T	DPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 915117	NM_003863.4(DPM2):c.*404C>T	DPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 915116	NM_003863.4(DPM2):c.*510A>G	DPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 915115	NM_003863.4(DPM2):c.*529G>A	DPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 913917	NM_003863.3(DPM2):c.-523C>A	DPM2	Single nucleotide variant	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 913916	NM_003863.3(DPM2):c.-267T>C	DPM2, LOC130002675	Single nucleotide variant	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 913870	NM_003863.3(DPM2):c.*632T>C	DPM2	Single nucleotide variant	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 913535	NM_003863.3(DPM2):c.-208G>A	DPM2, LOC130002675	Single nucleotide variant	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 913534	NM_003863.3(DPM2):c.-84G>A	DPM2, LOC130002675	Single nucleotide variant	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 843254	NM_003863.4(DPM2):c.3+3G>T	DPM2, LOC130002675	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 831938	NC_000009.12:g.(?_127815672)_(128541180_?)del	AK1, BBLN +22 more	Deletion	not provided	GPathogenic
Select item 766872	NM_003863.4(DPM2):c.66C>G (p.Thr22=)	DPM2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 745531	NM_003863.4(DPM2):c.94-4C>T	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 741466	NM_003863.4(DPM2):c.120C>T (p.Ile40=)	DPM2	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 726703	NM_003863.4(DPM2):c.94-9C>T	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GLikely benign
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2