ClinVar for MedGen (Select 322311) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 248

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1698934	NM_020975.6(RET):c.1921G>C (p.Ala641Pro)	RET (A387P +14 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 1327060	NM_020975.6(RET):c.1232C>G (p.Ser411Cys)	RET (S157C +6 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 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 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 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 997472	NM_020975.6(RET):c.1942G>T (p.Val648Phe)	RET (V394F +14 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +2 more	GUncertain significance
Select item 978717	NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys)	NTRK1 (E554K +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis +1 more	GLikely pathogenic
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 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 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 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
Select item 838741	NM_020975.6(RET):c.1264-10G>A	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +5 more	GUncertain significance
Select item 823117	NM_020975.6(RET):c.3184T>C (p.Tyr1062His)	RET (Y1062H +17 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +7 more	GUncertain significance
Select item 822820	NM_020975.6(RET):c.890G>A (p.Arg297His)	RET (R43H +3 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GUncertain significance
Select item 821298	NM_020975.6(RET):c.2450G>A (p.Arg817His)	RET (R563H +17 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GUncertain significance
Select item 821031	NM_020975.6(RET):c.2286G>C (p.Glu762Asp)	RET (E762D +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 818987	NM_020975.6(RET):c.1363G>A (p.Val455Ile)	RET (V201I +8 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GUncertain significance
Select item 749796	NM_020975.6(RET):c.186G>A (p.Glu62=)	RET	Single nucleotide variant (synonymous variant +1 more)	Hirschsprung disease, susceptibility to, 1 +5 more	GLikely benign
Select item 745515	NM_020975.6(RET):c.723C>T (p.Ala241=)	RET	Single nucleotide variant (synonymous variant +2 more)	Hirschsprung disease, susceptibility to, 1 +6 more	GLikely benign
Select item 737891	NM_020975.6(RET):c.138C>T (p.Ala46=)	RET	Single nucleotide variant (synonymous variant +1 more)	Multiple endocrine neoplasia, type 2 +6 more	GLikely benign
Select item 700047	NM_020975.6(RET):c.1649-7T>C	RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +5 more	GLikely benign
Select item 700002	NM_020975.6(RET):c.1311C>T (p.Asn437=)	RET	Single nucleotide variant (synonymous variant +1 more)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GLikely benign
Select item 698368	NM_020975.6(RET):c.2089C>T (p.Leu697=)	RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GLikely benign
Select item 697406	NM_020975.6(RET):c.825C>T (p.Gly275=)	RET	Single nucleotide variant (synonymous variant +1 more)	not provided +7 more	GLikely benign
Select item 665731	NM_020975.6(RET):c.2710T>G (p.Ser904Ala)	RET (S650A +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 662310	NM_020975.6(RET):c.701G>A (p.Arg234Gln)	RET (R234Q +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 655550	NM_020975.6(RET):c.2365A>G (p.Lys789Glu)	RET (K535E +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 655391	NM_020975.6(RET):c.2209A>C (p.Lys737Gln)	RET (K483Q +17 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +8 more	GUncertain significance
Select item 651895	NM_020975.6(RET):c.82G>A (p.Gly28Ser)	RET (G28S)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 618965	NM_020975.4(RET):c.[2410G>A;2832C>G]	RET (V804M +35 more)	Single nucleotide variant (missense variant)	Medullary thyroid carcinoma	GPathogenic
Select item 584745	NM_020975.6(RET):c.652C>T (p.Pro218Ser)	RET (P218S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 584603	NM_002529.4(NTRK1):c.2105G>A (p.Arg702His)	NTRK1 (R666H +2 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +1 more	GUncertain significance
Select item 584602	NM_002529.4(NTRK1):c.1525G>C (p.Asp509His)	NTRK1 (D503H +2 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +2 more	GUncertain significance
Select item 584601	NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp)	NTRK1 (G482D +2 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +1 more	GUncertain significance
Select item 584600	NM_002529.4(NTRK1):c.1381G>A (p.Gly461Arg)	NTRK1 (G425R +2 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +1 more	GUncertain significance
Select item 584598	NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser)	NTRK1 (N251S +1 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +2 more	GUncertain significance
Select item 584596	NM_002529.4(NTRK1):c.422A>C (p.Gln141Pro)	NTRK1 (Q111P +1 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +1 more	GUncertain significance
Select item 584595	NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys)	NTRK1 (R119C +1 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +1 more	GUncertain significance
Select item 584592	NM_014215.3(INSRR):c.3319G>T (p.Ala1107Ser)	NTRK1, INSRR (A40E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 584591	NM_014215.3(INSRR):c.3397+4del	INSRR, NTRK1 (V13fs)	Deletion (frameshift variant +1 more)	Familial medullary thyroid carcinoma	GUncertain significance
Select item 584589	NM_014215.3(INSRR):c.3537dup (p.Val1180fs)	INSRR, NTRK1 (V1180fs)	Duplication (frameshift variant +1 more)	Familial medullary thyroid carcinoma	GUncertain significance
Select item 584563	NM_020975.6(RET):c.2162G>A (p.Arg721Gln)	RET (R721Q +17 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +7 more	GUncertain significance
Select item 581770	NM_020975.6(RET):c.2755G>C (p.Ala919Pro)	RET (A919P +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 580338	NM_020975.6(RET):c.2129A>G (p.Lys710Arg)	RET (K710R +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GUncertain significance
Select item 573409	NM_020975.6(RET):c.433G>A (p.Val145Ile)	RET (V145I)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA +8 more	GConflicting classifications of pathogenicity
Select item 572175	NM_020975.6(RET):c.1423C>T (p.Arg475Trp)	RET (R475W +8 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 570574	NM_020975.6(RET):c.2182A>G (p.Lys728Glu)	RET (K728E +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 570220	NM_020975.6(RET):c.1547C>G (p.Pro516Arg)	RET (P516R +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 568215	NM_020975.6(RET):c.398G>A (p.Arg133His)	RET (R133H)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA +7 more	GConflicting classifications of pathogenicity
Select item 560871	NM_020975.6(RET):c.602G>C (p.Ser201Thr)	RET (S201T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 548922	NM_020975.6(RET):c.3176A>G (p.Asn1059Ser)	RET (N1059S +17 more)	Single nucleotide variant (missense variant)	Familial medullary thyroid carcinoma +6 more	GUncertain significance
Select item 548870	NM_020975.6(RET):c.1016C>T (p.Ser339Leu)	RET (S339L +3 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 543787	NM_020975.6(RET):c.1371A>T (p.Ser457=)	RET	Single nucleotide variant (synonymous variant +1 more)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GLikely benign
Select item 543774	NM_020975.6(RET):c.96G>A (p.Ser32=)	RET	Single nucleotide variant (synonymous variant +1 more)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GLikely benign
Select item 543773	NM_020975.6(RET):c.2124C>T (p.Ala708=)	RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GLikely benign
Select item 543767	NM_020975.6(RET):c.3006C>T (p.Ser1002=)	RET	Single nucleotide variant (synonymous variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +7 more	GLikely benign
Select item 543760	NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)	RET (P1067S)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GConflicting classifications of pathogenicity
Select item 543757	NM_020975.6(RET):c.2546G>A (p.Gly849Asp)	RET (G849D +17 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +5 more	GUncertain significance
Select item 543752	NM_020975.6(RET):c.1154G>T (p.Gly385Val)	RET (G385V +6 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GUncertain significance
Select item 543745	NM_020975.6(RET):c.2657G>A (p.Arg886Gln)	RET (R886Q +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 543735	NM_020975.6(RET):c.350C>A (p.Pro117His)	RET (P117H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 543734	NM_020975.6(RET):c.2996C>T (p.Ala999Val)	RET (A999V +17 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +6 more	GUncertain significance
Select item 543723	NM_020975.6(RET):c.1138G>A (p.Asp380Asn)	RET (D380N +6 more)	Single nucleotide variant (missense variant)	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB +5 more	GUncertain significance
Select item 543721	NM_020975.6(RET):c.577G>T (p.Val193Leu)	RET (V193L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 511190	NM_020975.6(RET):c.2393-5C>T	RET	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3