ClinVar for Gene (Select 3630) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364832	NM_000207.3(INS):c.35C>T (p.Ala12Val)	INS, INS-IGF2 (A12V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3346944	NM_000207.3(INS):c.242C>T (p.Ala81Val)	INS, INS-IGF2 (A81V)	Single nucleotide variant (missense variant +1 more)	INS-related disorder	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3054992	NM_000207.3(INS):c.188-40C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	INS-related disorder	GLikely benign
Select item 3040666	NM_001042376.3(INS-IGF2):c.6C>T (p.Ala2=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	INS-IGF2-related disorder	GLikely benign
Select item 3036718	NM_000207.3(INS):c.187+6C>G	INS, INS-IGF2	Single nucleotide variant (intron variant)	INS-related disorder	GLikely benign
Select item 3035689	NM_000207.3(INS):c.187+245C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	INS-related disorder	GLikely benign
Select item 3033630	NM_000207.3(INS):c.224G>A (p.Gly75Asp)	INS, INS-IGF2 (G75D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3031610	NM_000207.3(INS):c.279A>G (p.Glu93=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	INS-related disorder	GLikely benign
Select item 3029536	NM_000207.3(INS):c.*49G>A	INS, INS-IGF2	Single nucleotide variant (3 prime UTR variant +1 more)	INS-related disorder	GLikely benign
Select item 3020391	NM_000207.3(INS):c.188-17G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956324	NM_000207.3(INS):c.15G>A (p.Met5Ile)	INS, INS-IGF2 (M5I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2862531	NM_000207.3(INS):c.317A>T (p.Glu106Val)	INS, INS-IGF2 (E106V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2856439	NM_000207.3(INS):c.272T>C (p.Ile91Thr)	INS, INS-IGF2 (I91T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2822542	NM_000207.3(INS):c.249G>A (p.Glu83=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2694226	NM_000207.3(INS):c.316_318del (p.Glu106del)	INS, INS-IGF2 (E106del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2664354	NM_000207.3(INS):c.104T>A (p.Leu35Gln)	INS, INS-IGF2 (L35Q)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GLikely risk allele
Select item 2636035	NM_000207.3(INS):c.206G>A (p.Gly69Asp)	INS, INS-IGF2 (G69D)	Single nucleotide variant (missense variant +1 more)	INS-related disorder	GUncertain significance
Select item 2634300	NM_000207.2(INS):c.-152C>T	INS	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 2631502	NM_000207.3(INS):c.284G>A (p.Cys95Tyr)	INS, INS-IGF2 (C95Y)	Single nucleotide variant (missense variant +1 more)	INS-related disorder	GLikely pathogenic
Select item 2630683	NM_000207.3(INS):c.188-43C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	INS-related disorder	GUncertain significance
Select item 2630345	NM_000207.3(INS):c.136C>T (p.Arg46Ter)	INS, INS-IGF2 (R46*)	Single nucleotide variant (nonsense +1 more)	INS-related disorder	GLikely pathogenic
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2443150	NM_000207.3(INS):c.299G>A (p.Cys100Tyr)	INS, INS-IGF2 (C100Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2443149	NM_000207.3(INS):c.187+391C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2428828	NM_000207.3(INS):c.188-5_188-4insGCGCAGTGGGGCACCTGCCACTGCGC	INS, INS-IGF2	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2427669	NC_000011.9:g.(?_1278740)_(2906719_?)dup	ASCL2, BRSK2 +32 more	Duplication	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2311109	NM_001042376.3(INS-IGF2):c.52G>C (p.Gly18Arg)	INS, INS-IGF2 (G18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284265	NM_001042376.3(INS-IGF2):c.145T>C (p.Phe49Leu)	INS, INS-IGF2 (F49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2179727	NM_000207.3(INS):c.48C>G (p.Leu16=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2152100	NM_000207.3(INS):c.277G>A (p.Glu93Lys)	INS, INS-IGF2 (E93K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054798	NM_000207.3(INS):c.207C>T (p.Gly69=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1948092	NM_000207.3(INS):c.194A>G (p.Gln65Arg)	INS, INS-IGF2 (Q65R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1900945	NM_000207.3(INS):c.188-11C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1801851	NM_000207.3(INS):c.153A>C (p.Thr51=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1801850	NM_000207.3(INS):c.155C>G (p.Pro52Arg)	INS, INS-IGF2 (P52R)	Single nucleotide variant (missense variant +1 more)	Neonatal insulin-dependent diabetes mellitus	GLikely pathogenic
Select item 1801848	NM_000207.3(INS):c.187+15C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	Neonatal insulin-dependent diabetes mellitus	GBenign
Select item 1774163	NM_000207.3(INS):c.150C>T (p.Tyr50=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1718014	NM_000207.3(INS):c.212G>C (p.Gly71Ala)	INS, INS-IGF2 (G71A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1715602	NM_000207.3(INS):c.29T>A (p.Leu10Gln)	INS, INS-IGF2 (L10Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1703675	GRCh37/hg19 11p15.5(chr11:1621232-2228572)	CTSD, H19 +15 more	Copy number gain	Beckwith-Wiedemann syndrome	GPathogenic
Select item 1678636	NM_000207.3(INS):c.155C>A (p.Pro52His)	INS, INS-IGF2 (P52H)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 10	GUncertain significance
Select item 1526013	NM_000207.3(INS):c.103C>A (p.Leu35Met)	INS, INS-IGF2 (L35M)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1526012	NM_000207.3(INS):c.101A>C (p.His34Pro)	INS, INS-IGF2 (H34P)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1526011	NM_000207.3(INS):c.326G>T (p.Cys109Phe)	INS-IGF2, INS (C109F)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1526010	NM_000207.3(INS):c.322T>G (p.Tyr108Asp)	INS, INS-IGF2 (Y108D)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1526009	NM_000207.3(INS):c.293G>T (p.Ser98Ile)	INS, INS-IGF2 (S98I)	Single nucleotide variant (missense variant +1 more)	Neonatal diabetes mellitus	GLikely pathogenic
Select item 1459937	NC_000011.9:g.(?_2181023)_(2182533_?)del	INS, INS-IGF2	Deletion	not provided	GPathogenic
Select item 1457228	NC_000011.9:g.(?_2181023)_(2193087_?)del	INS, INS-IGF2 +1 more	Deletion	Autosomal recessive DOPA responsive dystonia	GPathogenic
Select item 1455986	NM_000207.3(INS):c.1A>G (p.Met1Val)	INS, INS-IGF2 (M1V)	Single nucleotide variant (missense variant +2 more)	Type 1 diabetes mellitus 2 +4 more	GPathogenic/Likely pathogenic
Select item 1359577	NM_000207.3(INS):c.91T>G (p.Cys31Gly)	INS, INS-IGF2 (C31G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1340828	GRCh37/hg19 11p15.5(chr11:1719815-2321109)x3	ASCL2, C11orf21 +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 1338640	NM_000207.3(INS):c.103C>G (p.Leu35Val)	INS, INS-IGF2 (L35V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1338622	NM_000207.3(INS):c.95G>T (p.Gly32Val)	INS, INS-IGF2 (G32V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1337685	NM_000207.3(INS):c.188-137A>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1337581	NM_000207.3(INS):c.188-114G>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1337497	NM_000207.2(INS):c.-439G>A	INS, LOC109623489	Single nucleotide variant	not specified	GUncertain significance
Select item 1337436	NM_000207.3(INS):c.147C>T (p.Phe49=)	INS-IGF2, INS	Single nucleotide variant (synonymous variant +1 more)	Hyperproinsulinemia +1 more	GUncertain significance
Select item 1337288	NM_000207.3(INS):c.187+203G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1337186	NM_000207.3(INS):c.188-97C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1337077	NM_000207.2(INS):c.-88A>G	INS	Single nucleotide variant	not specified	GUncertain significance
Select item 1337069	NM_000207.2(INS):c.-485_-430del	INS, LOC109623489	Deletion	not specified	GBenign
Select item 1337065	NM_000207.3(INS):c.188-233C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1336766	NM_000207.3(INS):c.-17-74T>C	INS, INS-IGF2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1336720	NM_000207.2(INS):c.-293C>T	INS	Single nucleotide variant	not specified	GUncertain significance
Select item 1336686	NM_000207.3(INS):c.187+271A>G	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1336658	NM_000207.3(INS):c.-46A>G	INS, INS-IGF2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1336487	NM_000207.3(INS):c.289A>C (p.Thr97Pro)	INS, INS-IGF2 (T97P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1336428	NM_000207.2(INS):c.-449_-443del	INS, LOC109623489	Deletion	not specified	GBenign
Select item 1336162	NM_000207.2(INS):c.-146A>C	INS	Single nucleotide variant	not specified	GLikely benign
Select item 1336035	NM_000207.2(INS):c.-379_-372dup	INS	Duplication	not specified	GBenign
Select item 1317682	NM_000207.3(INS):c.-153C>G	INS	Single nucleotide variant	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1291923	NC_000011.10:g.2161265C>G	INS	Single nucleotide variant	not provided	GBenign
Select item 1275239	NC_000011.10:g.2159566C>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269776	NC_000011.10:g.2159542C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265784	NC_000011.10:g.2159615G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261033	NM_000207.3(INS):c.-18+38A>G	INS, INS-IGF2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1252995	NM_000207.2(INS):c.-463_-451del	INS, LOC109623489	Deletion	not provided +1 more	GBenign
Select item 1239524	NM_000207.3(INS):c.188-168G>C	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232756	NM_000207.3(INS):c.188-111C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211544	NM_000207.3(INS):c.187+282G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1162205	NM_000207.3(INS):c.115C>T (p.Leu39Phe)	INS, INS-IGF2 (L39F)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 10	GLikely pathogenic
Select item 1049511	NM_000207.3(INS):c.227G>A (p.Ser76Asn)	INS, INS-IGF2 (S76N)	Single nucleotide variant (missense variant +1 more)	Type 1 diabetes mellitus 2 +4 more	GConflicting classifications of pathogenicity
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	ANO9, AP2A2 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1004798	NC_000011.9:g.(?_612625)_(2193840_?)dup	AP2A2, BRSK2 +45 more	Duplication	Immunodeficiency 39 +1 more	GUncertain significance
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980415	GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3	TNNT3, ASCL2 +22 more	Copy number gain	not provided	GPathogenic
Select item 931331	NM_001042376.3(INS-IGF2):c.155C>T (p.Pro52Leu)	INS, INS-IGF2 (P52L)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 10	GPathogenic
Select item 918067	NM_000207.3(INS):c.286T>C (p.Cys96Arg)	INS, INS-IGF2 (C96R)	Single nucleotide variant (missense variant +1 more)	Type 1 diabetes mellitus 2	GLikely risk allele
Select item 916729	NM_000207.3(INS):c.174del (p.Glu59fs)	INS, INS-IGF2 (E59fs)	Deletion (frameshift variant +1 more)	Neonatal insulin-dependent diabetes mellitus	GLikely pathogenic
Select item 880304	NM_000207.3(INS):c.72C>A (p.Ala24=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	Transient Neonatal Diabetes, Dominant/Recessive +4 more	GBenign/Likely benign
Select item 878501	NM_000207.3(INS):c.187+15C>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	Transient Neonatal Diabetes, Dominant/Recessive +1 more	GUncertain significance
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	C11orf21, AP2A2 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic

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