C0025269[trait identifier] AND "Counsyl"[submitter] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 372083	NM_020975.6(RET):c.73+9278G>A	LOC110121502, MCS+9.7 +1 more	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 2B +1 more	GLikely benign
Select item 405538	NM_020975.6(RET):c.134C>T (p.Ala45Val)	RET (A45V)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GUncertain significance
Select item 184368	NM_020975.6(RET):c.225G>A (p.Thr75=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia type 2B +8 more	GConflicting classifications of pathogenicity
Select item 188305	NM_020975.6(RET):c.262A>G (p.Ile88Val)	RET (I88V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 216724	NM_020975.6(RET):c.308A>G (p.His103Arg)	RET (H103R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 136120	NM_020975.6(RET):c.335G>A (p.Arg112His)	RET (R112H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 299887	NM_020975.6(RET):c.337+12G>A	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +9 more	GBenign/Likely benign
Select item 372085	NM_020975.6(RET):c.337+29G>A	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 2B +1 more	GLikely 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 216727	NM_020975.6(RET):c.406G>A (p.Glu136Lys)	RET (E136K)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 216729	NM_020975.6(RET):c.431G>A (p.Arg144His)	RET (R144H)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +7 more	GUncertain significance
Select item 41844	NM_020975.6(RET):c.509C>T (p.Thr170Ile)	RET (T170I +1 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +4 more	GUncertain significance
Select item 161360	NM_020975.6(RET):c.539G>A (p.Arg180Gln)	RET (R180Q +1 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 184536	NM_020975.6(RET):c.604G>A (p.Val202Met)	RET (V202M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GUncertain significance
Select item 136122	NM_020975.6(RET):c.667G>A (p.Val223Met)	RET (V223M +2 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +4 more	GConflicting classifications of pathogenicity
Select item 136123	NM_020975.6(RET):c.693C>T (p.Arg231=)	RET	Single nucleotide variant (synonymous variant +2 more)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 220205	NM_020975.6(RET):c.832A>G (p.Thr278Ala)	RET (T278A +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GUncertain significance
Select item 261398	NM_020975.6(RET):c.867+48A>G	RET	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
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 13932	NM_020975.6(RET):c.938G>A (p.Arg313Gln)	RET (R313Q +3 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 188078	NM_020975.6(RET):c.972G>C (p.Trp324Cys)	RET (W324C +3 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 216731	NM_020975.6(RET):c.977A>G (p.Gln326Arg)	RET (Q326R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 548870	NM_020975.6(RET):c.1016C>T (p.Ser339Leu)	RET (S339L +3 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +6 more	GConflicting classifications of pathogenicity
Select item 220952	NM_020975.6(RET):c.1017G>A (p.Ser339=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia type 2A +5 more	GBenign/Likely benign
Select item 241333	NM_020975.6(RET):c.1063+9G>A	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +9 more	GConflicting classifications of pathogenicity
Select item 136094	NM_020975.6(RET):c.1095G>A (p.Ser365=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia type 2B +3 more	GConflicting classifications of pathogenicity
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 216713	NM_020975.6(RET):c.1150C>G (p.Pro384Ala)	RET (P384A +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +3 more	GConflicting classifications of pathogenicity
Select item 136096	NM_020975.6(RET):c.1182C>T (p.Asn394=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia type 2A +6 more	GLikely benign
Select item 372081	NM_020975.6(RET):c.1187C>T (p.Ser396Leu)	RET (S396L +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +5 more	GUncertain significance
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 136097	NM_020975.6(RET):c.1264-4C>T	RET	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 477314	NM_020975.6(RET):c.1312G>A (p.Val438Ile)	RET (V438I +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
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 136100	NM_020975.6(RET):c.1437C>T (p.Ala479=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 2 +4 more	GBenign/Likely benign
Select item 135189	NM_020975.6(RET):c.1438G>A (p.Glu480Lys)	RET (E480K +8 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +4 more	GConflicting classifications of pathogenicity
Select item 241337	NM_020975.6(RET):c.1522+35C>T	RET	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 219959	NM_020975.6(RET):c.1530C>T (p.Ala510=)	RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 24883	NM_020975.6(RET):c.1531G>A (p.Glu511Lys)	RET (E257K +11 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 24887	NM_020975.6(RET):c.1597G>A (p.Gly533Ser)	RET (G279S +11 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 136102	NM_020975.6(RET):c.1642G>A (p.Gly548Ser)	RET (G548S +12 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity
Select item 372084	NM_020975.6(RET):c.1648+24G>A	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 2B +1 more	GLikely benign
Select item 132762	NM_020975.6(RET):c.1702G>A (p.Gly568Ser)	RET (G568S +12 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity
Select item 13933	NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)	RET (C609Y +12 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +5 more	GPathogenic
Select item 13928	NM_020975.6(RET):c.1859G>T (p.Cys620Phe)	RET (C620F +12 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
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 24920	NM_020975.6(RET):c.1894G>A (p.Glu632Lys)	RET (E378K +13 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +4 more	GConflicting classifications of pathogenicity
Select item 216718	NM_020975.6(RET):c.1897C>G (p.Leu633Val)	RET (L379V +14 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GUncertain significance
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 241341	NM_020975.6(RET):c.1915G>A (p.Ala639Thr)	RET (A639T +14 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +5 more	GConflicting classifications of pathogenicity
Select item 241342	NM_020975.6(RET):c.1921G>A (p.Ala641Thr)	RET (A641T +14 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 161358	NM_020975.6(RET):c.2081G>A (p.Arg694Gln)	RET (R694Q +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +9 more	GConflicting classifications of pathogenicity
Select item 372088	NM_020975.6(RET):c.2110G>T (p.Val704Phe)	RET (V704F +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GUncertain significance
Select item 372079	NM_020975.6(RET):c.2116G>A (p.Val706Met)	RET (V706M +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +4 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 187701	NM_020975.6(RET):c.2225C>T (p.Thr742Met)	RET (T742M +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +8 more	GConflicting classifications of pathogenicity
Select item 220507	NM_020975.6(RET):c.2226G>A (p.Thr742=)	RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 2 +4 more	GBenign/Likely benign
Select item 135177	NM_020975.6(RET):c.2261C>T (p.Thr754Met)	RET (T754M +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
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 38611	NM_020975.6(RET):c.2304G>T (p.Glu768Asp)	RET (E768D +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +4 more	GPathogenic/Likely pathogenic
Select item 135178	NM_020975.6(RET):c.2348A>C (p.Asn783Thr)	RET (N783T +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +5 more	GConflicting classifications of pathogenicity
Select item 24939	NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)	RET (Y537N +16 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 13936	NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	RET (Y791F +17 more)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
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 136110	NM_020975.6(RET):c.2409C>T (p.Ile803=)	RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 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 136111	NM_020975.6(RET):c.2449C>T (p.Arg817Cys)	RET (R817C +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +5 more	GUncertain significance
Select item 24943	NM_020975.6(RET):c.2452G>A (p.Glu818Lys)	RET (E564K +16 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 220530	NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)	RET (Y826S +17 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 372078	NM_020975.6(RET):c.2488G>A (p.Gly830Arg)	RET (G830R +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +7 more	GConflicting classifications of pathogenicity
Select item 24947	NM_020975.6(RET):c.2522C>T (p.Pro841Leu)	RET (P587L +16 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 24950	NM_020975.6(RET):c.2530C>T (p.Arg844Trp)	RET (R590W +16 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 24952	NM_020975.6(RET):c.2531G>T (p.Arg844Leu)	RET (R844L +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +3 more	GUncertain significance
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 216720	NM_020975.6(RET):c.2607+4C>T	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 2A +4 more	GConflicting classifications of pathogenicity
Select item 41842	NM_020975.6(RET):c.2611G>A (p.Val871Ile)	RET (V871I +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 24957	NM_020975.6(RET):c.2641C>G (p.Leu881Val)	RET (L627V +16 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 215913	NM_020975.6(RET):c.2715C>T (p.Tyr905=)	RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 2A +6 more	GBenign/Likely benign
Select item 13919	NM_020975.6(RET):c.2753T>C (p.Met918Thr)	RET (M918T +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +16 more	GPathogenic/Likely pathogenic
Select item 135180	NM_020975.6(RET):c.2875C>T (p.Arg959Trp)	RET (R959W +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +4 more	GUncertain significance
Select item 216722	NM_020975.6(RET):c.2931C>G (p.Ser977Arg)	RET (S977R +17 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
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 41843	NM_020975.6(RET):c.2982A>C (p.Lys994Asn)	RET (K994N +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 372099	NM_020975.6(RET):c.3040-11C>G	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +2 more	GLikely benign
Select item 132727	NM_020975.6(RET):c.3057G>A (p.Ala1019=)	RET	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 13948	NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)	RET (P1039L +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 372080	NM_020975.6(RET):c.3142C>G (p.Leu1048Val)	RET (L1048V +17 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 548922	NM_020975.6(RET):c.3176A>G (p.Asn1059Ser)	RET (N1059S +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 135181	NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)	RET (Y1062C +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 136116	NM_020975.6(RET):c.3188-9C>T	RET	Single nucleotide variant (intron variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 543760	NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)	RET (P1067S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 220521	NM_020975.6(RET):c.3206G>C (p.Trp1069Ser)	RET (W1069S)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +5 more	GUncertain significance
Select item 136118	NM_020975.6(RET):c.3243T>C (p.Asp1081=)	RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia type 2A +7 more	GConflicting classifications of pathogenicity
Select item 183744	NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)	RET (T1085A)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia +8 more	GConflicting classifications of pathogenicity
Select item 201136	NM_020975.6(RET):c.3314C>T (p.Ala1105Val)	RET (A1105V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity

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Items: 98