8818[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC108281127, LOC113839508 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
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 365110	NM_003863.3(DPM2):c.*627C>T	DPM2	Single nucleotide variant	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 365111	NM_003863.4(DPM2):c.*553G>A	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 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 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 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 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 365112	NM_003863.4(DPM2):c.*49G>T	DPM2	Single nucleotide variant (3 prime UTR variant +1 more)	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 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 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 128921	NM_003863.4(DPM2):c.227C>G (p.Thr76Ser)	DPM2 (T76S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
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 652697	NM_003863.4(DPM2):c.212_213delinsGC (p.Tyr71Cys)	DPM2 (Y71C +1 more)	Indel (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 128920	NM_003863.4(DPM2):c.213T>C (p.Tyr71=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
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 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 540608	NM_003863.4(DPM2):c.208T>G (p.Ser70Ala)	DPM2 (S70A +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	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 365113	NM_003863.4(DPM2):c.197-5C>T	DPM2	Single nucleotide variant (intron variant)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GConflicting classifications of pathogenicity
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 1196032	NM_003863.4(DPM2):c.196+191C>G	DPM2	Single nucleotide variant (intron variant)	not provided	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 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 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 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 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 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 128919	NM_003863.4(DPM2):c.183G>A (p.Leu61=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely 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 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 128918	NM_003863.4(DPM2):c.177C>T (p.Leu59=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy +1 more	GBenign/Likely benign
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 2465765	NM_003863.4(DPM2):c.167C>T (p.Ala56Val)	DPM2 (A26V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2465764	NM_003863.4(DPM2):c.166G>T (p.Ala56Ser)	DPM2 (A26S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 540609	NM_003863.4(DPM2):c.154G>A (p.Ala52Thr)	DPM2 (A52T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
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 383874	NM_003863.4(DPM2):c.153C>T (p.Val51=)	DPM2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 568680	NM_003863.4(DPM2):c.146A>G (p.Tyr49Cys)	DPM2 (Y49C +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 540610	NM_003863.4(DPM2):c.145T>A (p.Tyr49Asn)	DPM2 (Y49N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
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 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 984511	NM_003863.4(DPM2):c.139del (p.Arg47fs)	DPM2 (R17fs +1 more)	Deletion (frameshift variant +1 more)	not specified	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 2464322	NM_003863.4(DPM2):c.125A>C (p.Lys42Thr)	DPM2 (K42T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 1006598	NM_003863.4(DPM2):c.108_111del (p.Gln37fs)	DPM2 (Q37fs +1 more)	Deletion (frameshift variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
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 650014	NM_003863.4(DPM2):c.107G>A (p.Ser36Asn)	DPM2 (S36N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
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 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 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 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 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 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 1673817	NM_003863.4(DPM2):c.94-14del	DPM2	Deletion (non-coding transcript variant +1 more)	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 (non-coding transcript variant +1 more)	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 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 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 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 1217485	NM_003863.4(DPM2):c.93+60C>G	DPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 365114	NM_003863.4(DPM2):c.88C>G (p.Leu30Val)	DPM2 (L30V)	Single nucleotide variant (missense variant +2 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 39446	NM_003863.4(DPM2):c.68A>G (p.Tyr23Cys)	DPM2 (Y23C)	Single nucleotide variant (missense variant +2 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
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 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 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 392159	NM_003863.4(DPM2):c.64A>G (p.Thr22Ala)	DPM2 (T22A)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely 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 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 632533	NM_003863.4(DPM2):c.37del (p.Leu13fs)	DPM2 (L13fs)	Deletion (frameshift variant +2 more)	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GConflicting classifications of pathogenicity

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