ClinVar for Gene (Select 10644) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285499	NM_006548.6(IGF2BP2):c.1535C>T (p.Ala512Val)	IGF2BP2 (A406V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3108546	NM_006548.6(IGF2BP2):c.928A>G (p.Ile310Val)	IGF2BP2 (I247V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108545	NM_006548.6(IGF2BP2):c.671A>G (p.Gln224Arg)	IGF2BP2, LOC126806896 (Q224R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108544	NM_006548.6(IGF2BP2):c.461A>G (p.Tyr154Cys)	IGF2BP2, LOC126806896 (Y91C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108543	NM_006548.6(IGF2BP2):c.1171C>T (p.Pro391Ser)	IGF2BP2 (P391S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108542	NM_006548.6(IGF2BP2):c.1138G>A (p.Val380Met)	IGF2BP2 (V323M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108541	NM_006548.6(IGF2BP2):c.1106G>A (p.Ser369Asn)	IGF2BP2 (S233N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108540	NM_006548.6(IGF2BP2):c.1081A>T (p.Asn361Tyr)	IGF2BP2 (N367Y +4 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3108539	NM_006548.6(IGF2BP2):c.1015A>G (p.Ile339Val)	IGF2BP2 (I203V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062690	GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	ABCF3, ALG3 +26 more	Copy number gain	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2604018	NM_006548.6(IGF2BP2):c.1162C>T (p.Arg388Cys)	IGF2BP2 (R325C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509609	NM_006548.6(IGF2BP2):c.488C>T (p.Pro163Leu)	IGF2BP2, LOC126806896 (P106L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509387	NM_006548.6(IGF2BP2):c.364G>A (p.Val122Ile)	IGF2BP2 (V65I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2485748	NM_006548.6(IGF2BP2):c.1208C>T (p.Ser403Phe)	IGF2BP2 (S360F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467195	NM_006548.6(IGF2BP2):c.1181C>T (p.Ala394Val)	IGF2BP2 (A331V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459962	NM_006548.6(IGF2BP2):c.1306A>T (p.Thr436Ser)	IGF2BP2 (T300S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383741	NM_006548.6(IGF2BP2):c.442T>C (p.Tyr148His)	IGF2BP2, LOC126806896 (Y148H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352667	NM_006548.6(IGF2BP2):c.46G>A (p.Ala16Thr)	IGF2BP2 (A16T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241077	NM_006548.6(IGF2BP2):c.1717C>T (p.Arg573Cys)	IGF2BP2 (R437C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231014	NM_006548.6(IGF2BP2):c.530G>A (p.Arg177Gln)	IGF2BP2, LOC126806896 (R177Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527064	GRCh37/hg19 3q27.2(chr3:185135104-185741504)	IGF2BP2, LIPH +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 814506	GRCh37/hg19 3q27.1-27.2(chr3:184493051-185493146)x3	LIPH, EHHADH +6 more	Copy number gain	not provided	GUncertain significance
Select item 814505	GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1	DVL3, ALG3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 745118	NM_006548.6(IGF2BP2):c.1443A>T (p.Pro481=)	IGF2BP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 562851	GRCh37/hg19 3q27.2(chr3:185169926-185519350)x3	LIPH, SENP2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 523279	GRCh37/hg19 3q27.1-28(chr3:184300169-188285627)	FETUB, HRG +32 more	Copy number loss	Cognitive impairment +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394816	GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1	ADIPOQ, AHSG +14 more	Copy number loss	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 144319	GRCh38/hg38 3q27.2(chr3:185506271-185977882)x1	IGF2BP2, IGF2BP2-AS1 +15 more	Copy number loss	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 2435	NM_006548.6(IGF2BP2):c.239+29254C>A	IGF2BP2	Single nucleotide variant (intron variant)	Diabetes mellitus type 2, susceptibility to	Grisk factor

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Links from Gene

Items: 68