ClinVar for MedGen (Select 854827) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065760	NM_020975.6(RET):c.277G>A (p.Gly93Ser)	RET (G93S)	Single nucleotide variant (missense variant +1 more)	Hirschsprung disease, susceptibility to, 1	GLikely pathogenic
Select item 3065254	NM_020975.6(RET):c.2780del (p.Ile927fs)	RET (I444fs +17 more)	Deletion (frameshift variant)	Hirschsprung disease, susceptibility to, 1	GLikely pathogenic
Select item 2692322	NM_020975.6(RET):c.338-7T>G	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 2678321	NM_020975.6(RET):c.3004A>G (p.Ser1002Gly)	RET (S1002G +17 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 2678320	NM_020975.6(RET):c.2693A>T (p.Asp898Val)	RET (D415V +17 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 2678319	NM_020975.6(RET):c.1303G>A (p.Gly435Ser)	RET (G105S +8 more)	Single nucleotide variant (missense variant +1 more)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 2678318	NM_020975.6(RET):c.737A>T (p.His246Leu)	RET (H150L +2 more)	Single nucleotide variant (missense variant +2 more)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 2678316	NM_020975.6(RET):c.712G>C (p.Glu238Gln)	RET (E142Q +2 more)	Single nucleotide variant (missense variant +2 more)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 2678315	NM_020975.6(RET):c.983C>T (p.Thr328Ile)	RET (T232I +3 more)	Single nucleotide variant (missense variant +1 more)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 2443064	NM_020975.6(RET):c.2617C>T (p.Arg873Trp)	RET (R390W +17 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +1 more	GLikely pathogenic
Select item 1805786	NM_020975.6(RET):c.1522+1G>A	RET	Single nucleotide variant (splice donor variant +1 more)	Hirschsprung disease, susceptibility to, 1	GLikely pathogenic
Select item 1792463	NM_020975.6(RET):c.2515G>A (p.Asp839Asn)	RET (D404N +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +2 more	GUncertain significance
Select item 1785477	NM_020975.6(RET):c.2077C>T (p.Arg693Cys)	RET (R349C +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +2 more	GUncertain significance
Select item 1777553	NM_020975.6(RET):c.1664T>G (p.Phe555Cys)	RET (F213C +12 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +2 more	GLikely pathogenic
Select item 1775944	NM_020975.6(RET):c.1592G>A (p.Cys531Tyr)	RET (C277Y +12 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +1 more	GUncertain significance
Select item 1765018	NM_020975.6(RET):c.889C>T (p.Arg297Cys)	RET (R254C +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1763538	NM_020975.6(RET):c.847G>C (p.Val283Leu)	RET (V29L +3 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +1 more	GUncertain significance
Select item 1748837	NM_020975.6(RET):c.564C>A (p.Phe188Leu)	RET (F145L +1 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +2 more	GUncertain significance
Select item 1709650	NM_020975.6(RET):c.1438G>T (p.Glu480Ter)	RET (E150* +8 more)	Single nucleotide variant (nonsense)	Hirschsprung disease, susceptibility to, 1	GLikely pathogenic
Select item 1709192	NM_020975.6(RET):c.2136+2T>G	RET	Single nucleotide variant (splice donor variant)	Multiple endocrine neoplasia, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 1709068	NM_020975.6(RET):c.158T>C (p.Val53Ala)	RET (V53A)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 1697458	NM_020975.6(RET):c.626-41G>A	RET	Single nucleotide variant (5 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 1 +5 more	GLikely benign
Select item 1668576	NM_020975.6(RET):c.2433C>T (p.Ser811=)	RET	Single nucleotide variant (synonymous variant)	Hirschsprung disease, susceptibility to, 1 +5 more	GLikely benign
Select item 1667342	NM_020975.6(RET):c.1879+18G>A	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1 +5 more	GLikely benign
Select item 1662743	NM_020975.6(RET):c.868-18G>T	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1 +5 more	GLikely benign
Select item 1654274	NM_020975.6(RET):c.1263+19C>T	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1 +5 more	GLikely benign
Select item 1613163	NM_020975.6(RET):c.810C>A (p.Pro270=)	RET	Single nucleotide variant (synonymous variant +1 more)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GLikely benign
Select item 1605446	NM_020975.6(RET):c.2284+15C>T	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +5 more	GLikely benign
Select item 1598128	NM_020975.6(RET):c.2939+13T>C	RET	Single nucleotide variant (intron variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +5 more	GLikely benign
Select item 1592544	NM_020975.6(RET):c.73+17G>T	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +5 more	GLikely benign
Select item 1584253	NM_020975.6(RET):c.1648+14A>G	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +5 more	GLikely benign
Select item 1560404	NM_020975.6(RET):c.625+11A>G	RET	Single nucleotide variant (intron variant)	Familial medullary thyroid carcinoma +5 more	GLikely benign
Select item 1538693	NM_020975.6(RET):c.1230C>G (p.Leu410=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GLikely benign
Select item 1521041	NM_020975.6(RET):c.2480T>C (p.Leu827Pro)	RET (L827P +17 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +5 more	GUncertain significance
Select item 1502247	NM_020975.6(RET):c.451A>G (p.Asn151Asp)	RET (N151D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1483934	NM_020975.6(RET):c.2623T>G (p.Leu875Val)	RET (L875V +17 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +2 more	GUncertain significance
Select item 1481718	NM_020975.6(RET):c.592C>T (p.Pro198Ser)	RET (P198S +1 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +5 more	GUncertain significance
Select item 1461344	NM_020975.6(RET):c.1412A>C (p.Lys471Thr)	RET (K217T +8 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 1450795	NM_020975.6(RET):c.657C>G (p.Asp219Glu)	RET (D219E +2 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +2 more	GUncertain significance
Select item 1436497	NM_020975.6(RET):c.3174A>C (p.Glu1058Asp)	RET (E1058D +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +5 more	GUncertain significance
Select item 1430721	NM_020975.6(RET):c.1829A>G (p.Asn610Ser)	RET (N610S +12 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GUncertain significance
Select item 1421734	NM_020975.6(RET):c.2566T>G (p.Trp856Gly)	RET (W856G +17 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +2 more	GUncertain significance
Select item 1416919	NM_020975.6(RET):c.3278A>G (p.Asp1093Gly)	RET (D1093G)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +1 more	GUncertain significance
Select item 1385324	NM_020975.6(RET):c.3179A>G (p.Lys1060Arg)	RET (K806R +17 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GUncertain significance
Select item 1312671	NM_020975.6(RET):c.1633C>A (p.Gln545Lys)	RET (Q291K +12 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1201517	NM_020975.6(RET):c.1264-5C>A	RET	Single nucleotide variant (intron variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +7 more	GConflicting classifications of pathogenicity
Select item 1136313	NM_020975.6(RET):c.2487T>C (p.Ser829=)	RET	Single nucleotide variant (synonymous variant)	Hirschsprung disease, susceptibility to, 1 +5 more	GLikely benign
Select item 1106240	NM_020975.6(RET):c.960C>T (p.Pro320=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 1103935	NM_020975.6(RET):c.2700T>C (p.Tyr900=)	RET	Single nucleotide variant (synonymous variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA +6 more	GLikely benign
Select item 1093517	NM_020975.6(RET):c.1617C>A (p.Gly539=)	RET	Single nucleotide variant (synonymous variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA +5 more	GLikely benign
Select item 1084292	NM_020975.6(RET):c.2985G>A (p.Arg995=)	RET	Single nucleotide variant (synonymous variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA +6 more	GLikely benign
Select item 1065487	NM_020975.6(RET):c.898G>A (p.Asp300Asn)	RET (D300N +3 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 1045058	NM_020975.6(RET):c.2164A>G (p.Lys722Glu)	RET (K468E +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1044947	NM_020975.6(RET):c.565C>T (p.Arg189Cys)	RET (R189C +1 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GUncertain significance
Select item 1016306	NM_020975.6(RET):c.445TTC[1] (p.Phe150del)	RET (F150del)	Microsatellite (inframe_indel +1 more)	Hirschsprung disease, susceptibility to, 1 +6 more	GUncertain significance
Select item 1008125	NM_020975.6(RET):c.1828A>C (p.Asn610His)	RET (N356H +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1001262	NM_020975.6(RET):c.3124G>A (p.Asp1042Asn)	RET (D1042N +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +5 more	GUncertain significance
Select item 1001213	NM_020975.6(RET):c.452A>T (p.Asn151Ile)	RET (N151I)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GUncertain significance
Select item 997535	NM_020975.6(RET):c.199C>G (p.Arg67Gly)	RET (R67G)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 997534	NM_020975.6(RET):c.3137C>A (p.Ala1046Asp)	RET (A1046D +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +2 more	GUncertain significance
Select item 972031	NM_020975.6(RET):c.3031A>G (p.Lys1011Glu)	RET (K757E +17 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +6 more	GUncertain significance
Select item 971865	NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys)	RET (Y761C +17 more)	Single nucleotide variant (missense variant)	RET-related condition +7 more	GUncertain significance
Select item 968066	NM_020975.6(RET):c.677G>C (p.Arg226Pro)	RET (R226P +2 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +6 more	GUncertain significance
Select item 966506	NM_020975.6(RET):c.1783G>A (p.Glu595Lys)	RET (E595K +12 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +2 more	GUncertain significance
Select item 964019	NM_020975.6(RET):c.3332C>T (p.Thr1111Met)	RET (T1111M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 959187	NM_020975.6(RET):c.2078G>A (p.Arg693His)	RET (R693H +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 956150	NM_020975.6(RET):c.1385C>T (p.Ser462Leu)	RET (S462L +8 more)	Single nucleotide variant (missense variant)	Ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 952569	NM_020975.6(RET):c.59C>A (p.Pro20Gln)	RET (P20Q)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 946452	NM_020975.6(RET):c.3140C>T (p.Pro1047Leu)	RET (P1047L +17 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GUncertain significance
Select item 939898	NM_020975.6(RET):c.750C>T (p.Arg250=)	RET	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 937428	NM_020975.6(RET):c.960C>A (p.Pro320=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 936959	NM_020975.6(RET):c.2297C>T (p.Pro766Leu)	RET (P512L +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 880357	NM_020975.6(RET):c.*1516C>T	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +3 more	GUncertain significance
Select item 880217	NM_020975.6(RET):c.*180G>A	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 879260	NM_020975.6(RET):c.*1900C>A	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 879101	NM_020975.6(RET):c.*1112A>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 879000	NM_020975.6(RET):c.*159G>T	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 878710	NM_020975.6(RET):c.-51C>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia +3 more	GUncertain significance
Select item 878659	NM_020975.6(RET):c.*1886T>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 878562	NM_020975.6(RET):c.*1430A>G	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +4 more	GConflicting classifications of pathogenicity
Select item 878517	NM_020975.6(RET):c.*1046G>C	RET	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 878467	NM_020975.6(RET):c.*500C>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 878084	NM_020975.6(RET):c.1326G>T (p.Leu442=)	RET	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1 +3 more	GUncertain significance
Select item 877981	NM_020975.6(RET):c.867+4C>G	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 877685	NM_020975.6(RET):c.-160G>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 877684	NM_020975.6(RET):c.-173A>G	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 877645	NM_020975.6(RET):c.*1812C>A	RET	Single nucleotide variant (3 prime UTR variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 877587	NM_020975.6(RET):c.*1533A>G	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 877535	NM_020975.6(RET):c.*1326T>C	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +3 more	GConflicting classifications of pathogenicity
Select item 877490	NM_020975.6(RET):c.*883G>A	RET	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 1 +3 more	GUncertain significance
Select item 877445	NM_020975.6(RET):c.*492G>C	RET	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1 +3 more	GBenign/Likely benign
Select item 877386	NM_020975.6(RET):c.*29C>A	RET	Single nucleotide variant (3 prime UTR variant)	Multiple endocrine neoplasia +4 more	GConflicting classifications of pathogenicity
Select item 877158	NM_020975.6(RET):c.1880-5C>A	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia +4 more	GUncertain significance
Select item 877094	NM_020975.6(RET):c.1601T>C (p.Leu534Pro)	RET (L534P +12 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +5 more	GUncertain significance
Select item 870394	NM_020975.6(RET):c.2629G>C (p.Ala877Pro)	RET (A877P +17 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GLikely pathogenic
Select item 864094	NM_020975.6(RET):c.178C>T (p.Pro60Ser)	RET (P60S)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GUncertain significance
Select item 862826	NM_020975.6(RET):c.1811C>T (p.Ala604Val)	RET (A350V +12 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GUncertain significance
Select item 857380	NM_020975.6(RET):c.2771T>A (p.Phe924Tyr)	RET (F670Y +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 856445	NM_020975.6(RET):c.443C>T (p.Ser148Phe)	RET (S148F)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GUncertain significance
Select item 851935	NM_020975.6(RET):c.3192G>A (p.Met1064Ile)	RET (M1064I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity

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