"KCCC/NGS Laboratory, Kuwait Cancer Control Center"[submitter] AND "RE - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 477370	NM_020975.6(RET):c.322A>C (p.Lys108Gln)	RET (K108Q)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +3 more	GConflicting classifications of pathogenicity
Select item 95996	NM_020975.6(RET):c.337+9G>A	RET	Single nucleotide variant (intron variant)	not provided +9 more	GBenign/Likely benign
Select item 372092	NM_020975.6(RET):c.337+34C>T	RET	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 95997	NM_020975.6(RET):c.375C>A (p.Val125=)	RET	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1 +8 more	GBenign/Likely benign
Select item 216730	NM_020975.6(RET):c.582G>A (p.Gln194=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 2 +4 more	GLikely benign
Select item 220722	NM_020975.6(RET):c.868-18G>A	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 2B +5 more	GBenign
Select item 219685	NM_020975.6(RET):c.951G>A (p.Thr317=)	RET	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 188268	NM_020975.6(RET):c.1118C>T (p.Ala373Val)	RET (A373V +6 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +8 more	GBenign/Likely benign
Select item 287736	NM_020975.6(RET):c.1119G>A (p.Ala373=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 184610	NM_020975.6(RET):c.1197G>A (p.Pro399=)	RET	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 132713	NM_020975.6(RET):c.1264-5C>T	RET	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1 +10 more	GBenign/Likely benign
Select item 95995	NM_020975.6(RET):c.1296A>G (p.Ala432=)	RET	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1 +9 more	GBenign
Select item 135187	NM_020975.6(RET):c.1336G>C (p.Gly446Arg)	RET (G446R +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GBenign/Likely benign
Select item 135190	NM_020975.6(RET):c.1465G>A (p.Asp489Asn)	RET (D489N +8 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +5 more	GBenign/Likely benign
Select item 477317	NM_020975.6(RET):c.1539G>A (p.Ala513=)	RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 2B +3 more	GLikely benign
Select item 486300	NM_020975.6(RET):c.1866C>T (p.Pro622=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 372091	NM_020975.6(RET):c.1879+13C>T	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 2B +6 more	GConflicting classifications of pathogenicity
Select item 372086	NM_020975.6(RET):c.1879+17C>T	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +2 more	GBenign/Likely benign
Select item 13911	NM_020975.6(RET):c.1901G>T (p.Cys634Phe)	RET (C634F +14 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 13909	NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)	RET (C634Y +14 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 261395	NM_020975.6(RET):c.1908G>A (p.Thr636=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia type 2B +4 more	GLikely benign
Select item 136107	NM_020975.6(RET):c.2037C>T (p.Pro679=)	RET	Single nucleotide variant (synonymous variant)	Renal hypodysplasia/aplasia 1 +8 more	GBenign/Likely benign
Select item 24934	NM_020975.6(RET):c.2071G>A (p.Gly691Ser)	RET (G437S +16 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 372098	NM_020975.6(RET):c.2136+15G>A	RET	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 261396	NM_020975.6(RET):c.2284+47C>T	RET	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 220687	NM_020975.6(RET):c.2298G>A (p.Pro766=)	RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 2B +4 more	GConflicting classifications of pathogenicity
Select item 372082	NM_020975.6(RET):c.2393-14C>T	RET	Single nucleotide variant (intron variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 219833	NM_020975.6(RET):c.2393-9C>T	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 37102	NM_020975.6(RET):c.2410G>A (p.Val804Met)	RET (V804M +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +12 more	GPathogenic/Likely pathogenic
Select item 24946	NM_020975.6(RET):c.2508C>T (p.Ser836=)	RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 2 +8 more	GBenign/Likely benign
Select item 241349	NM_020975.6(RET):c.2554A>G (p.Ile852Val)	RET (I852V +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +3 more	GBenign/Likely benign
Select item 24955	NM_020975.6(RET):c.2556C>G (p.Ile852Met)	RET (I598M +16 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 942848	NM_020975.6(RET):c.2561T>C (p.Phe854Ser)	RET (F600S +17 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 24956	NM_020975.6(RET):c.2608-24G>A	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 2B +3 more	GBenign
Select item 13951	NM_020975.6(RET):c.2671T>G (p.Ser891Ala)	RET (S891A +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +10 more	GPathogenic
Select item 24964	NM_020975.6(RET):c.2712C>G (p.Ser904=)	RET	Single nucleotide variant (synonymous variant)	not provided +9 more	GBenign
Select item 13938	NM_020975.6(RET):c.2944C>T (p.Arg982Cys)	RET (R982C +17 more)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 132724	NM_020975.6(RET):c.2976G>A (p.Pro992=)	RET	Single nucleotide variant (synonymous variant)	Renal hypodysplasia/aplasia 1 +7 more	GBenign/Likely benign
Select item 165056	NM_020975.6(RET):c.3187+47T>C	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +5 more	GBenign

ClinVar

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Items: 39