3630[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 202

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 more	Copy number gain	See cases	GPathogenic
Select item 155520	GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3	ASCL2, C11orf21 +32 more	Copy number gain	See cases	GUncertain significance
Select item 148331	GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3	ASCL2, C11orf21 +28 more	Copy number gain	See cases	GUncertain significance
Select item 1269776	NC_000011.10:g.2159542C>T	INS, INS-IGF2	Single nucleotide variant (intron 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 1265784	NC_000011.10:g.2159615G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 65581	NM_000207.3(INS):c.*59A>G	INS, INS-IGF2	Single nucleotide variant (3 prime UTR variant +1 more)	Permanent neonatal diabetes mellitus	Gnot provided
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 304049	NM_000207.3(INS):c.*42C>T	INS, INS-IGF2	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +2 more	GConflicting classifications of pathogenicity
Select item 304050	NM_000207.3(INS):c.*28G>A	INS, INS-IGF2	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +2 more	GConflicting classifications of pathogenicity
Select item 304051	NM_000207.3(INS):c.*22A>C	INS, INS-IGF2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +8 more	GConflicting classifications of pathogenicity
Select item 255531	NM_000207.3(INS):c.*9C>T	INS, INS-IGF2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +5 more	GBenign/Likely benign
Select item 304052	NM_000207.3(INS):c.*2C>T	INS, INS-IGF2	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +2 more	GConflicting classifications of pathogenicity
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 435510	NM_000207.3(INS):c.320ACT[1] (p.Tyr108del)	INS, INS-IGF2 (Y108del)	Microsatellite (inframe_deletion +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 21120	NM_000207.3(INS):c.323A>G (p.Tyr108Cys)	INS, INS-IGF2 (Y108C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GLikely risk allele
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 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 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 68732	NM_000207.3(INS):c.308A>G (p.Tyr103Cys)	INS, INS-IGF2 (Y103C)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 68731	NM_000207.3(INS):c.302C>G (p.Ser101Cys)	INS, INS-IGF2 (S101C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GLikely risk allele
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 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 435508	NM_000207.3(INS):c.292A>T (p.Ser98Cys)	INS, INS-IGF2 (S98C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance/Uncertain risk allele
Select item 617648	NM_000207.3(INS):c.290C>G (p.Thr97Ser)	INS, INS-IGF2 (T97S)	Single nucleotide variant (missense variant +1 more)	Neonatal insulin-dependent diabetes mellitus +1 more	GConflicting classifications of pathogenicity
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 68730	NM_000207.3(INS):c.287G>C (p.Cys96Ser)	INS, INS-IGF2 (C96S)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus	Gnot provided
Select item 13387	NM_000207.3(INS):c.287G>A (p.Cys96Tyr)	INS, INS-IGF2 (C96Y)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4 +2 more	GConflicting classifications of pathogenicity
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 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 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 393455	NM_000207.3(INS):c.278A>G (p.Glu93Gly)	INS, INS-IGF2 (E93G)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 10 +1 more	GConflicting classifications of pathogenicity
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 13381	NM_000207.3(INS):c.274G>T (p.Val92Leu)	INS-IGF2, INS (V92L)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	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 21118	NM_000207.3(INS):c.268G>T (p.Gly90Cys)	INS, INS-IGF2 (G90C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GUncertain significance
Select item 13383	NM_000207.3(INS):c.266G>C (p.Arg89Pro)	INS, INS-IGF2 (R89P)	Single nucleotide variant (missense variant +1 more)	Hyperproinsulinemia	GPathogenic
Select item 13382	NM_000207.3(INS):c.266G>T (p.Arg89Leu)	INS, INS-IGF2 (R89L)	Single nucleotide variant (missense variant +1 more)	Hyperproinsulinemia	GPathogenic
Select item 13380	NM_000207.3(INS):c.266G>A (p.Arg89His)	INS, INS-IGF2 (R89H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 21117	NM_000207.3(INS):c.265C>T (p.Arg89Cys)	INS, INS-IGF2 (R89C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 68729	NM_000207.3(INS):c.250G>A (p.Gly84Arg)	INS-IGF2, INS (G84R)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	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 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 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 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 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 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 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 68728	NM_000207.3(INS):c.202C>A (p.Leu68Met)	INS, INS-IGF2 (L68M)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus +1 more	GUncertain significance
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 304053	NM_000207.3(INS):c.188-3C>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 10 +2 more	GConflicting classifications of pathogenicity
Select item 2428828	NM_000207.3(INS):c.188-5_188-4insGCGCAGTGGGGCACCTGCCACTGCGC	INS, INS-IGF2	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 129279	NM_000207.3(INS):c.188-10G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	Neonatal insulin-dependent diabetes mellitus +8 more	GBenign/Likely benign
Select item 1900945	NM_000207.3(INS):c.188-11C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 36400	NM_000207.3(INS):c.188-16C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 10 +7 more	GBenign/Likely 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 211186	NM_000207.3(INS):c.188-31G>A	INS-IGF2, INS	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely risk allele
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 2630683	NM_000207.3(INS):c.188-43C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	INS-related disorder	GUncertain significance
Select item 435501	NM_000207.3(INS):c.188-96G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1232756	NM_000207.3(INS):c.188-111C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1337685	NM_000207.3(INS):c.188-137A>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1239524	NM_000207.3(INS):c.188-168G>C	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 435502	NM_000207.3(INS):c.188-220C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
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 2443149	NM_000207.3(INS):c.187+391C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 1336686	NM_000207.3(INS):c.187+271A>G	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 268153	NM_000207.3(INS):c.187+241G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 4	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 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 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 255532	NM_000207.3(INS):c.187+11T>C	INS, INS-IGF2 +1 more	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 10 +8 more	GBenign/Likely 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 431440	NM_000207.2(INS):c.(?_-191)_(187_?)+1del	INS, INS-IGF2	Deletion	Permanent neonatal diabetes mellitus	Gnot provided
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 13392	NM_000207.3(INS):c.163C>T (p.Arg55Cys)	INS, INS-IGF2 (R55C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus type 1 +2 more	GPathogenic/Likely pathogenic/Likely risk allele
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 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 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 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 304054	NM_000207.3(INS):c.153A>G (p.Thr51=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 10 +2 more	GConflicting classifications of pathogenicity
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 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 13377	NM_000207.3(INS):c.147C>G (p.Phe49Leu)	INS-IGF2, INS (F49L)	Single nucleotide variant (missense variant +1 more)	Hyperproinsulinemia	GPathogenic
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 447579	NM_000207.3(INS):c.130_144del (p.Gly44_Phe48del)	INS, INS-IGF2	Deletion (inframe_deletion +1 more)	not specified +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3