IGFBP3[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	LOC113748397, LOC113748398 +200 more	Copy number loss	See cases	GPathogenic
Select item 3063593	NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv]	LOC129998399, LOC129998400 +27 more	Indel	Cerebral cavernous malformation 2	GPathogenic
Select item 2334247	NM_000598.5(IGFBP3):c.851A>C (p.His284Pro)	IGFBP3 (H290P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254585	NM_000598.5(IGFBP3):c.776G>A (p.Arg259Gln)	IGFBP3 (R259Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716144	NM_000598.5(IGFBP3):c.700G>A (p.Gly234Ser)	IGFBP3 (G234S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2592192	NM_000598.5(IGFBP3):c.592C>G (p.Gln198Glu)	IGFBP3 (Q204E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736283	NM_000598.5(IGFBP3):c.582C>T (p.Ser194=)	IGFBP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2477820	NM_000598.5(IGFBP3):c.478G>C (p.Val160Leu)	IGFBP3 (V166L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 792074	NM_000598.5(IGFBP3):c.404-8G>A	IGFBP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2620970	NM_000598.5(IGFBP3):c.400C>T (p.Pro134Ser)	IGFBP3 (P134S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481380	NM_000598.5(IGFBP3):c.349G>A (p.Ala117Thr)	IGFBP3 (A117T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251320	NM_000598.5(IGFBP3):c.193C>T (p.Pro65Ser)	IGFBP3 (P65S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295281	NM_000598.5(IGFBP3):c.116G>A (p.Arg39His)	IGFBP3 (R39H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216626	NM_000598.5(IGFBP3):c.61G>T (p.Gly21Trp)	IGFBP3 (G21W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363774	NM_000598.5(IGFBP3):c.28G>T (p.Ala10Ser)	IGFBP3 (A10S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591212	NM_000598.5(IGFBP3):c.22C>G (p.Leu8Val)	IGFBP3 (L8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685239	GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1	ADCY1, AEBP1 +38 more	Copy number loss	not provided	GPathogenic
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 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 1047885	GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)	ADCY1, AEBP1 +44 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 814970	GRCh37/hg19 7p12.3(chr7:45895448-46380286)x3	IGFBP1, IGFBP3	Copy number gain	not provided	GUncertain significance
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 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 394005	GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1	ADCY1, AEBP1 +41 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: 36