C0005859[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133707	NM_000057.4(BLM):c.410A>G (p.Lys137Arg)	BLM (K137R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 133708	NM_000057.4(BLM):c.419A>G (p.Glu140Gly)	BLM (E140G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 136509	NM_000057.4(BLM):c.615G>A (p.Lys205=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +3 more	GBenign/Likely benign
Select item 92397	NM_000057.4(BLM):c.893C>T (p.Thr298Met)	BLM (T298M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 136510	NM_000057.4(BLM):c.1122T>C (p.His374=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 136511	NM_000057.4(BLM):c.1722A>G (p.Leu574=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 136512	NM_000057.4(BLM):c.2075-14T>C	BLM	Single nucleotide variant (intron variant)	Bloom syndrome +2 more	GBenign
Select item 223543	NM_000057.4(BLM):c.2075-12G>T	BLM	Single nucleotide variant (intron variant)	Bloom syndrome +2 more	GBenign/Likely benign
Select item 454094	NM_000057.4(BLM):c.2115T>C (p.Val705=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +1 more	GLikely benign
Select item 127482	NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)	BLM (P707S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 254778	NM_000057.4(BLM):c.2308-50G>A	BLM	Single nucleotide variant (intron variant)	Bloom syndrome +2 more	GBenign
Select item 92392	NM_000057.4(BLM):c.2555+7T>C	BLM	Single nucleotide variant (intron variant)	Bloom syndrome +2 more	GBenign
Select item 2573225	NM_000057.4(BLM):c.2603_2614delinsTAGAAAAGACT (p.Pro868fs)	BLM (P493fs +1 more)	Indel (frameshift variant)	Bloom syndrome	GBenign
Select item 2573224	NM_000057.4(BLM):c.2603_2605delinsTAG (p.Pro868_Lys869delinsLeuGlu)	BLM	Indel (missense variant)	Bloom syndrome	GBenign
Select item 92393	NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)	BLM (P868L +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +3 more	GBenign
Select item 413298	NM_000057.4(BLM):c.2898C>G (p.Leu966=)	BLM	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 92394	NM_000057.4(BLM):c.3102G>A (p.Thr1034=)	BLM	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 136516	NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)	BLM (A1043D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 254780	NM_000057.4(BLM):c.3358+32T>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome +2 more	GBenign
Select item 92395	NM_000057.4(BLM):c.3531C>A (p.Ala1177=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +3 more	GBenign
Select item 133701	NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)	BLM (V1205I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 236818	NM_000057.4(BLM):c.3849G>A (p.Gln1283=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 92396	NM_000057.4(BLM):c.3945C>T (p.Leu1315=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +3 more	GBenign
Select item 128530	NM_000057.4(BLM):c.3961G>A (p.Val1321Ile)	BLM (V1321I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign

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Items: 24