3481[Gene ID] - ClinVar - NCBI

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	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 147904	GRCh38/hg38 11p15.5(chr11:1975511-2138446)x3	H19, H19-ICR +9 more	Copy number gain	See cases	GBenign
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 148073	GRCh38/hg38 11p15.5(chr11:2052381-2138446)x3	IGF2, INS-IGF2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 155520	GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3	ASCL2, C11orf21 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152719	GRCh38/hg38 11p15.5(chr11:2127344-2159430)x3	IGF2, IGF2-AS +2 more	Copy number gain	See cases	GUncertain significance
Select item 3061189	NM_000612.6(IGF2):c.521A>C (p.Glu174Ala)	IGF2, INS-IGF2 (E174A +1 more)	Single nucleotide variant (missense variant +1 more)	IGF2-related disorder	GUncertain significance
Select item 998143	NM_000612.6(IGF2):c.520_521insC (p.Glu174fs)	IGF2, INS-IGF2 (E174fs +1 more)	Insertion (frameshift variant +1 more)	Colorectal cancer	GPathogenic
Select item 451532	NM_000612.6(IGF2):c.518dup (p.Glu174fs)	IGF2, INS-IGF2 (E230fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3372485	NM_000612.6(IGF2):c.518del (p.Pro173fs)	IGF2, INS-IGF2 (P173fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2324468	NM_000612.6(IGF2):c.518C>T (p.Pro173Leu)	IGF2, INS-IGF2 (P229L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3023243	NM_000612.6(IGF2):c.517C>T (p.Pro173Ser)	IGF2, INS-IGF2 (P173S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3063645	NM_000612.6(IGF2):c.513C>A (p.Ala171=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3068899	NM_000612.6(IGF2):c.509del (p.Gly170fs)	IGF2, INS-IGF2 (G170fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2409469	NM_000612.6(IGF2):c.505G>T (p.Gly169Trp)	IGF2, INS-IGF2 (G169W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2363787	NM_000612.6(IGF2):c.505G>C (p.Gly169Arg)	IGF2, INS-IGF2 (G225R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1602163	NM_000612.6(IGF2):c.504C>T (p.His168=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2359297	NM_000612.6(IGF2):c.503A>C (p.His168Pro)	IGF2, INS-IGF2 (H168P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223330	NM_000612.6(IGF2):c.499G>T (p.Ala167Ser)	IGF2, INS-IGF2 (A167S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3347375	NM_000612.6(IGF2):c.496C>A (p.Pro166Thr)	IGF2, INS-IGF2 (P166T +1 more)	Single nucleotide variant (missense variant +1 more)	IGF2-related disorder	GUncertain significance
Select item 2082658	NM_000612.6(IGF2):c.495C>G (p.Asp165Glu)	IGF2, INS-IGF2 (D165E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1196226	NM_000612.6(IGF2):c.490C>T (p.Gln164Ter)	IGF2, INS-IGF2 (Q164* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 769793	NM_000612.6(IGF2):c.480T>C (p.Ala160=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 504012	NM_000612.6(IGF2):c.472del (p.Pro157_Leu158insTer)	IGF2, INS-IGF2	Deletion (nonsense +1 more)	not provided	GUncertain significance
Select item 713986	NM_000612.6(IGF2):c.467G>A (p.Arg156His)	IGF2, INS-IGF2 (R156H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1359677	NM_000612.6(IGF2):c.466C>T (p.Arg156Cys)	IGF2, INS-IGF2 (R212C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2956557	NM_000612.6(IGF2):c.460C>T (p.Arg154Cys)	IGF2, INS-IGF2 (R210C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 728165	NM_000612.6(IGF2):c.444G>A (p.Ala148=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1598735	NM_000612.6(IGF2):c.441G>A (p.Glu147=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2178882	NM_000612.6(IGF2):c.439G>A (p.Glu147Lys)	IGF2, INS-IGF2 (E147K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2178673	NM_000612.6(IGF2):c.439G>C (p.Glu147Gln)	IGF2, INS-IGF2 (E147Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2888440	NM_000612.6(IGF2):c.438C>T (p.Leu146=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1595367	NM_000612.6(IGF2):c.438C>A (p.Leu146=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2064076	NM_000612.6(IGF2):c.421G>A (p.Val141Met)	IGF2, INS-IGF2 (V197M +1 more)	Single nucleotide variant (missense variant +1 more)	IGF2-related disorder +1 more	GUncertain significance
Select item 2969644	NM_000612.6(IGF2):c.420C>T (p.His140=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2807325	NM_000612.6(IGF2):c.418C>T (p.His140Tyr)	IGF2, INS-IGF2 (H196Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917711	NM_000612.6(IGF2):c.416G>T (p.Gly139Val)	IGF2, INS-IGF2 (G195V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2617071	NM_000612.6(IGF2):c.412C>T (p.Arg138Trp)	IGF2, INS-IGF2 (R138W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2414050	NM_000612.6(IGF2):c.412C>G (p.Arg138Gly)	IGF2, INS-IGF2 (R138G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3108532	NM_000612.6(IGF2):c.407C>G (p.Ala136Gly)	IGF2, INS-IGF2 (A192G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3340246	NM_000612.6(IGF2):c.404G>A (p.Arg135His)	IGF2, INS-IGF2 (R135H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2873270	NM_000612.6(IGF2):c.403C>T (p.Arg135Cys)	IGF2, INS-IGF2 (R191C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962591	NM_000612.6(IGF2):c.386G>T (p.Gly129Val)	IGF2, INS-IGF2 (G129V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 729023	NM_000612.6(IGF2):c.381C>T (p.Arg127=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 647387	NM_000612.6(IGF2):c.380G>T (p.Arg127Leu)	IGF2, INS-IGF2 (R183L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2821235	NM_000612.6(IGF2):c.372G>A (p.Gln124=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2111479	NM_000612.6(IGF2):c.370C>G (p.Gln124Glu)	IGF2, INS-IGF2 (Q124E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502356	NM_000612.6(IGF2):c.357G>A (p.Trp119Ter)	IGF2, INS-IGF2 (W119* +1 more)	Single nucleotide variant (nonsense +1 more)	Silver-Russell syndrome 3	GLikely pathogenic
Select item 3010214	NM_000612.6(IGF2):c.321A>C (p.Arg107Ser)	IGF2, INS-IGF2 (R107S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2864095	NM_000612.6(IGF2):c.318C>T (p.Pro106=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1373162	NM_000612.6(IGF2):c.307-3C>T	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2869950	NM_000612.6(IGF2):c.307-11T>G	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1977706	NM_000612.6(IGF2):c.306G>A (p.Pro102=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2885052	NM_000612.6(IGF2):c.305C>T (p.Pro102Leu)	IGF2, INS-IGF2 (P158L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1610880	NM_000612.6(IGF2):c.303T>C (p.Leu101=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3347794	NM_000612.6(IGF2):c.298G>A (p.Val100Met)	IGF2, INS-IGF2 (V100M +1 more)	Single nucleotide variant (missense variant +1 more)	IGF2-related disorder	GUncertain significance
Select item 2896604	NM_000612.6(IGF2):c.293C>T (p.Pro98Leu)	IGF2, INS-IGF2 (P98L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1897408	NM_000612.6(IGF2):c.285G>A (p.Ser95=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 754853	NM_000612.6(IGF2):c.279C>T (p.Asp93=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1597228	NM_000612.6(IGF2):c.270C>T (p.Ser90=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 728474	NM_000612.6(IGF2):c.261C>T (p.Pro87=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1401609	NM_000612.6(IGF2):c.257C>A (p.Thr86Asn)	IGF2, INS-IGF2 (T86N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3236772	NM_000612.6(IGF2):c.252T>G (p.Cys84Trp)	IGF2, INS-IGF2 (C140W +1 more)	Single nucleotide variant (missense variant +1 more)	Silver-Russell syndrome 3	GLikely pathogenic
Select item 1505532	NM_000612.6(IGF2):c.245C>T (p.Thr82Met)	IGF2, INS-IGF2 (T82M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499591	NM_000612.6(IGF2):c.243_244del (p.Glu81fs)	IGF2, INS-IGF2 (E137fs +1 more)	Microsatellite (frameshift variant +1 more)	Silver-Russell syndrome 3	GPathogenic
Select item 783591	NM_000612.6(IGF2):c.240G>A (p.Leu80=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 711541	NM_000612.6(IGF2):c.234C>G (p.Ala78=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2682447	NM_000612.6(IGF2):c.232G>A (p.Ala78Thr)	IGF2, INS-IGF2 (A134T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1275788	NM_000612.6(IGF2):c.227del (p.Asp76fs)	IGF2, INS-IGF2 (D132fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2731930	NM_000612.6(IGF2):c.217C>T (p.Arg73Cys)	IGF2, INS-IGF2 (R73C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1409569	NM_000612.6(IGF2):c.212G>A (p.Cys71Tyr)	IGF2, INS-IGF2 (C127Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 595839	NM_000612.6(IGF2):c.211T>C (p.Cys71Arg)	IGF2, INS-IGF2 (C71R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1328522	NM_000612.6(IGF2):c.199G>A (p.Val67Ile)	IGF2, INS-IGF2 (V123I +1 more)	Single nucleotide variant (missense variant +1 more)	Silver-Russell syndrome 3	GUncertain significance
Select item 2961583	NM_000612.6(IGF2):c.198C>T (p.Ile66=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 917503	NM_000612.6(IGF2):c.195del (p.Ile66fs)	IGF2, INS-IGF2 (I122fs +1 more)	Deletion (frameshift variant +1 more)	Silver-Russell syndrome 3	GLikely pathogenic
Select item 1478636	NM_000612.6(IGF2):c.190C>T (p.Arg64Cys)	IGF2, INS-IGF2 (R120C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3055661	NM_000612.6(IGF2):c.181C>T (p.Arg61Cys)	IGF2, INS-IGF2 (R117C +1 more)	Single nucleotide variant (missense variant +1 more)	IGF2-related disorder	GUncertain significance
Select item 3108531	NM_000612.6(IGF2):c.175G>A (p.Val59Met)	IGF2, INS-IGF2 (V115M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2890973	NM_000612.6(IGF2):c.166G>A (p.Ala56Thr)	IGF2, INS-IGF2 (A112T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908138	NM_000612.6(IGF2):c.165C>T (p.Pro55=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2504717	NM_000612.6(IGF2):c.163C>T (p.Pro55Ser)	IGF2, INS-IGF2 (P111S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2107814	NM_000612.6(IGF2):c.158-20_158-17del	IGF2, INS-IGF2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1957128	NM_000612.6(IGF2):c.158-19T>A	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2958220	NM_000612.6(IGF2):c.158-20C>A	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910064	NM_000612.6(IGF2):c.157+18G>C	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1900663	NM_000612.6(IGF2):c.157+15G>C	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880078	NM_000612.6(IGF2):c.157+8G>C	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2637040	NM_000612.6(IGF2):c.157+5G>A	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 917502	NM_000612.6(IGF2):c.157+3A>C	INS-IGF2, IGF2	Single nucleotide variant (intron variant)	Silver-Russell syndrome 3	GPathogenic
Select item 253298	NM_000612.6(IGF2):c.157+1_157+2insGC	IGF2, INS-IGF2	Insertion (splice donor variant)	Silver-Russell syndrome 1	GPathogenic
Select item 2799899	NM_000612.6(IGF2):c.145G>A (p.Gly49Ser)	IGF2, INS-IGF2 (G105S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity

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