C1834235[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 457784	NM_001042492.3(NF1):c.61-9T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +5 more	GConflicting classifications of pathogenicity
Select item 184126	NM_001042492.3(NF1):c.168C>T (p.Ser56=)	NF1	Single nucleotide variant (synonymous variant)	Café-au-lait macules with pulmonary stenosis +7 more	GBenign
Select item 257283	NM_001042492.3(NF1):c.288+41G>A	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 237582	NM_001042492.3(NF1):c.624G>A (p.Ala208=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +7 more	GLikely benign
Select item 257296	NM_001042492.3(NF1):c.655-29T>C	NF1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 183825	NM_001042492.3(NF1):c.702G>A (p.Leu234=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +7 more	GBenign
Select item 184123	NM_001042492.3(NF1):c.846G>A (p.Gln282=)	NF1	Single nucleotide variant (synonymous variant)	Café-au-lait macules with pulmonary stenosis +8 more	GBenign/Likely benign
Select item 184560	NM_001042492.3(NF1):c.1005T>C (p.Asn335=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +6 more	GBenign/Likely benign
Select item 257276	NM_001042492.3(NF1):c.1393-32T>C	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 257278	NM_001042492.3(NF1):c.1641+39T>C	NF1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 226850	NM_001042492.3(NF1):c.1845+13A>T	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 134880	NM_001042492.3(NF1):c.1933A>G (p.Met645Val)	NF1 (M645V)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 134881	NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)	NF1 (S665F)	Single nucleotide variant (missense variant)	Café-au-lait macules with pulmonary stenosis +7 more	GConflicting classifications of pathogenicity
Select item 141819	NM_001042492.3(NF1):c.2022C>T (p.Ser674=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +7 more	GBenign/Likely benign
Select item 183826	NM_001042492.3(NF1):c.2034G>A (p.Pro678=)	NF1	Single nucleotide variant (synonymous variant)	Café-au-lait macules with pulmonary stenosis +7 more	GBenign
Select item 413013	NM_001042492.3(NF1):c.2226C>G (p.Ala742=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +3 more	GLikely benign
Select item 215463	NM_001042492.3(NF1):c.2252-34T>C	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 215462	NM_001042492.3(NF1):c.2252-31A>T	NF1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 183949	NM_001042492.3(NF1):c.2544G>A (p.Gly848=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign
Select item 257282	NM_001042492.3(NF1):c.2851-16T>C	NF1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 184057	NM_001042492.3(NF1):c.2985G>C (p.Leu995=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +8 more	GBenign/Likely benign
Select item 233070	NM_001042492.3(NF1):c.3039G>A (p.Thr1013=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +2 more	GLikely benign
Select item 184233	NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 237547	NM_001042492.3(NF1):c.3315-8T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +3 more	GLikely benign
Select item 184364	NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)	NF1	Single nucleotide variant (synonymous variant)	Café-au-lait macules with pulmonary stenosis +6 more	GBenign/Likely benign
Select item 257285	NM_001042492.3(NF1):c.3496+33C>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +3 more	GBenign
Select item 142037	NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 231393	NM_001042492.3(NF1):c.3727C>T (p.Leu1243=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +2 more	GLikely benign
Select item 184231	NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)	NF1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 257290	NM_001042492.3(NF1):c.4431-46G>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +2 more	GBenign
Select item 227741	NM_001042492.3(NF1):c.4577+11C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +5 more	GBenign/Likely benign
Select item 226851	NM_001042492.3(NF1):c.4577+12C>T	NF1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 257291	NM_001042492.3(NF1):c.4578-39A>G	NF1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 257292	NM_001042492.3(NF1):c.4835+36T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +2 more	GBenign/Likely benign
Select item 184149	NM_001042492.3(NF1):c.4929G>A (p.Val1643=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +7 more	GBenign
Select item 184131	NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)	NF1	Single nucleotide variant (synonymous variant)	Café-au-lait macules with pulmonary stenosis +7 more	GBenign/Likely benign
Select item 257293	NM_001042492.3(NF1):c.5268+23T>C	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 480120	NM_001042492.3(NF1):c.5280T>C (p.Thr1760=)	NF1	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 481980	NM_001042492.3(NF1):c.5496A>G (p.Glu1832=)	NF1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 457755	NM_001042492.3(NF1):c.5517C>A (p.Ile1839=)	NF1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 257294	NM_001042492.3(NF1):c.5609+19T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +3 more	GBenign
Select item 184188	NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 413012	NM_001042492.3(NF1):c.6189A>G (p.Leu2063=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +3 more	GLikely benign
Select item 186916	NM_001042492.3(NF1):c.6315C>T (p.His2105=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +6 more	GLikely benign
Select item 412969	NM_001042492.3(NF1):c.6378C>T (p.Val2126=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 184228	NM_001042492.3(NF1):c.6393C>T (p.His2131=)	NF1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 184643	NM_001042492.3(NF1):c.6528T>C (p.Ile2176=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +3 more	GLikely benign
Select item 413019	NM_001042492.3(NF1):c.6600A>C (p.Thr2200=)	NF1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 257297	NM_001042492.3(NF1):c.6642+45T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +3 more	GBenign/Likely benign
Select item 230747	NM_001042492.3(NF1):c.6927G>A (p.Ser2309=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +2 more	GLikely benign
Select item 257300	NM_001042492.3(NF1):c.7189+37C>G	NF1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 232310	NM_001042492.3(NF1):c.7305C>T (p.Ser2435=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 220819	NM_001042492.3(NF1):c.7322-17C>T	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +7 more	GBenign/Likely benign
Select item 257303	NM_001042492.3(NF1):c.7458-29G>A	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 230467	NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	NF1 (R2496* +1 more)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +9 more	GPathogenic
Select item 184185	NM_001042492.3(NF1):c.7755C>T (p.Ser2585=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +7 more	GBenign
Select item 257305	NM_001042492.3(NF1):c.7971-19G>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +3 more	GBenign
Select item 141895	NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)	NF1 (I2660V +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +7 more	GConflicting classifications of pathogenicity
Select item 257306	NM_001042492.3(NF1):c.8113+20G>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +3 more	GBenign
Select item 215726	NM_001042492.3(NF1):c.8114-70A>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +4 more	GBenign/Likely benign
Select item 141033	NM_001042492.3(NF1):c.8151G>A (p.Pro2717=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +6 more	GBenign/Likely benign
Select item 257307	NM_001042492.3(NF1):c.8161-45A>C	NF1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 457868	NM_001042492.3(NF1):c.8161-8C>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +1 more	GLikely benign

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Items: 63