"Counsyl"[submitter] AND "RET"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 144

<< First< Prev

Page of 2

	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 241335	NM_020975.6(RET):c.139G>A (p.Gly47Ser)	RET (G47S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 216726	NM_020975.6(RET):c.334C>T (p.Arg112Cys)	RET (R112C)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1 +7 more	GUncertain significance
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 548834	NM_020975.6(RET):c.337+11C>T	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia type 2A +3 more	GLikely benign
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 41845	NM_020975.6(RET):c.785T>C (p.Val262Ala)	RET (V262A +3 more)	Single nucleotide variant (missense variant)	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 405524	NM_020975.6(RET):c.835G>A (p.Ala279Thr)	RET (A279T +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +2 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 405542	NM_020975.6(RET):c.1018G>T (p.Val340Phe)	RET (V340F +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 548864	NM_020975.6(RET):c.1083C>A (p.Asn361Lys)	RET (N361K +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
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 216714	NM_020975.6(RET):c.1188G>A (p.Ser396=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 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 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 548849	NM_020975.6(RET):c.1267G>A (p.Gly423Arg)	RET (G423R +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 413461	NM_020975.6(RET):c.1354C>A (p.Leu452Ile)	RET (L452I +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 477316	NM_020975.6(RET):c.1441C>G (p.Leu481Val)	RET (L481V +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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 241338	NM_020975.6(RET):c.1538C>T (p.Ala513Val)	RET (A513V +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 548897	NM_020975.6(RET):c.1649-4G>A	RET	Single nucleotide variant (intron variant)	Pheochromocytoma +7 more	GConflicting classifications of pathogenicity
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 136104	NM_020975.6(RET):c.1724C>T (p.Thr575Ile)	RET (T575I +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 24889	NM_020975.6(RET):c.1760-12G>A	RET	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 141420	NM_020975.6(RET):c.1760-3C>T	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +2 more	GUncertain significance
Select item 241339	NM_020975.6(RET):c.1777G>A (p.Gly593Arg)	RET (G593R +12 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2A +2 more	GUncertain significance
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 13914	NM_020975.6(RET):c.1853G>C (p.Cys618Ser)	RET (C618S +12 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +3 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 548925	NM_020975.6(RET):c.1876C>A (p.Gln626Lys)	RET (Q626K +12 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +2 more	GUncertain significance
Select item 405550	NM_020975.6(RET):c.1878G>A (p.Gln626=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 2 +2 more	GConflicting classifications of pathogenicity
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 299895	NM_020975.6(RET):c.1879+14G>A	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +5 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 24919	NM_020975.6(RET):c.1893C>T (p.Asp631=)	RET	Single nucleotide variant (synonymous variant +1 more)	not provided +4 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 13949	NM_020975.6(RET):c.1942G>A (p.Val648Ile)	RET (V648I +14 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +4 more	GConflicting classifications of pathogenicity
Select item 24928	NM_020975.6(RET):c.1946C>T (p.Ser649Leu)	RET (S395L +13 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 299897	NM_020975.6(RET):c.2070C>T (p.Ser690=)	RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 36727	NM_020975.6(RET):c.2080C>T (p.Arg694Trp)	RET (R694W +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
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 548901	NM_020975.6(RET):c.2137-16del	RET	Deletion (intron variant)	Multiple endocrine neoplasia, type 2 +1 more	GLikely 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 220577	NM_020975.6(RET):c.2284+54C>A	RET	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 548893	NM_020975.6(RET):c.2285-4T>G	RET	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
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 13935	NM_020975.6(RET):c.2370G>C (p.Leu790Phe)	RET (L790F +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +4 more	GPathogenic/Likely pathogenic
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 548735	NM_020975.6(RET):c.2392+19T>C	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +3 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 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

<< First< Prev

Page of 2