28868[HGNC] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 2341696	NM_006547.3(IGF2BP3):c.1564G>A (p.Val522Ile)	IGF2BP3 (V522I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386114	NM_006547.3(IGF2BP3):c.1526C>T (p.Thr509Met)	IGF2BP3 (T509M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774452	NM_006547.3(IGF2BP3):c.1204-7C>A	IGF2BP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2368476	NM_006547.3(IGF2BP3):c.1193C>T (p.Pro398Leu)	IGF2BP3 (P398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285503	NM_006547.3(IGF2BP3):c.1183C>T (p.Pro395Ser)	IGF2BP3 (P395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108547	NM_006547.3(IGF2BP3):c.1113C>G (p.Asn371Lys)	IGF2BP3 (N371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276732	NM_006547.3(IGF2BP3):c.1021G>A (p.Glu341Lys)	IGF2BP3 (E341K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 997791	NM_006547.3(IGF2BP3):c.922A>G (p.Thr308Ala)	IGF2BP3 (T308A)	Single nucleotide variant (missense variant)	Primary microcephaly	GUncertain significance
Select item 2323620	NM_006547.3(IGF2BP3):c.920A>G (p.Asp307Gly)	IGF2BP3 (D307G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465178	NM_006547.3(IGF2BP3):c.911A>G (p.Gln304Arg)	IGF2BP3 (Q304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265422	NM_006547.3(IGF2BP3):c.861T>G (p.Phe287Leu)	IGF2BP3 (F287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480017	NM_006547.3(IGF2BP3):c.773A>G (p.Lys258Arg)	IGF2BP3 (K258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352931	NM_006547.3(IGF2BP3):c.710C>T (p.Ala237Val)	IGF2BP3 (A237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303410	NM_006547.3(IGF2BP3):c.698G>A (p.Arg233His)	IGF2BP3 (R233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265608	NM_006547.3(IGF2BP3):c.610A>G (p.Thr204Ala)	IGF2BP3 (T204A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392998	NM_006547.3(IGF2BP3):c.562G>A (p.Val188Ile)	IGF2BP3 (V188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285500	NM_006547.3(IGF2BP3):c.536C>T (p.Ser179Phe)	IGF2BP3 (S179F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458072	NM_006547.3(IGF2BP3):c.517G>T (p.Gly173Trp)	IGF2BP3 (G173W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108549	NM_006547.3(IGF2BP3):c.512G>A (p.Arg171His)	IGF2BP3 (R171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285501	NM_006547.3(IGF2BP3):c.460A>G (p.Ile154Val)	IGF2BP3 (I154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285504	NM_006547.3(IGF2BP3):c.419A>G (p.Asn140Ser)	IGF2BP3 (N140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691122	NM_006547.3(IGF2BP3):c.285+21968C>T	IGF2BP3	Single nucleotide variant (intron variant)	Vascular endothelial growth factor (VEGF) inhibitor response	Gassociation
Select item 2507661	NM_006547.3(IGF2BP3):c.269C>G (p.Pro90Arg)	IGF2BP3 (P90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517731	NM_006547.3(IGF2BP3):c.250C>G (p.Gln84Glu)	IGF2BP3 (Q84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108548	NM_006547.3(IGF2BP3):c.244A>C (p.Lys82Gln)	IGF2BP3 (K82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151970	GRCh38/hg38 7p15.3(chr7:23423194-23635828)x1	CCDC126, IGF2BP3 +14 more	Copy number loss	See cases	GLikely benign
Select item 2463593	NM_006547.3(IGF2BP3):c.202A>G (p.Ile68Val)	IGF2BP3 (I68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512888	NM_006547.3(IGF2BP3):c.139G>A (p.Glu47Lys)	IGF2BP3 (E47K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242428	NM_006547.3(IGF2BP3):c.134C>T (p.Pro45Leu)	IGF2BP3 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285502	NM_006547.3(IGF2BP3):c.133C>G (p.Pro45Ala)	IGF2BP3 (P45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2685238	GRCh37/hg19 7p15.3(chr7:23483815-23544371)x1	IGF2BP3	Copy number loss	not provided	GUncertain significance
Select item 2684484	GRCh37/hg19 7p15.3(chr7:22362299-23695195)x3	GPNMB, CCDC126 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807992	GRCh37/hg19 7p15.3(chr7:22949862-23470342)x3	GPNMB, HYCC1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527341	GRCh37/hg19 7p15.3(chr7:22574536-23357770)	GPNMB, HYCC1 +8 more	Copy number loss	not specified	GUncertain significance
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 63