Related gene-specific medical variations for Gene (Select 5979) - 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 3054907	NM_020975.6(RET):c.-23C>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	RET-related condition	GLikely benign
Select item 3053801	NM_020975.6(RET):c.73+9398G>A	LOC110121502, MCS+9.7 +1 more	Single nucleotide variant (intron variant)	RET-related condition	GLikely benign
Select item 3048275	NM_020975.6(RET):c.73+9405G>A	LOC110121502, MCS+9.7 +1 more	Single nucleotide variant (intron variant)	RET-related condition	GLikely benign
Select item 3036896	NM_020975.6(RET):c.73+9408A>G	LOC110121502, MCS+9.7 +1 more	Single nucleotide variant (intron variant)	RET-related condition	GLikely benign
Select item 3029773	NM_020975.6(RET):c.73+9390C>T	LOC110121502, MCS+9.7 +1 more	Single nucleotide variant (intron variant)	RET-related condition	GLikely benign
Select item 3026657	NM_020975.6(RET):c.2800G>A (p.Val934Ile)	LOC130003710, RET (V451I +17 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914324	NM_020975.6(RET):c.5C>A (p.Ala2Glu)	LOC106736614, RET (A2E)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 2870705	NM_020975.6(RET):c.2801+12T>C	LOC130003710, RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 2818431	NM_020975.6(RET):c.2801+15T>C	LOC130003710, RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 2741884	NM_020975.6(RET):c.2801+19C>A	LOC130003710, RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 2733686	NM_020975.6(RET):c.2801+7G>T	LOC130003710, RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 2733287	NM_020975.6(RET):c.6G>T (p.Ala2=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 2723047	NM_020975.6(RET):c.2791C>A (p.Gln931Lys)	LOC130003710, RET (Q536K +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 2717904	NM_020975.6(RET):c.19G>C (p.Gly7Arg)	LOC106736614, RET (G7R)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 2713355	NM_020975.6(RET):c.28G>A (p.Gly10Arg)	LOC106736614, RET (G10R)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	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 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 2576108	NM_020975.6(RET):c.2940-26A>C	RET	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2568372	NM_020975.6(RET):c.21T>C (p.Gly7=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2447524	NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla)	LOC106736614, RET	Duplication (inframe_indel +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2445369	NM_020975.6(RET):c.818C>A (p.Pro273His)	RET (P177H +3 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2153627	NM_020975.6(RET):c.2801+19C>G	LOC130003710, RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 2005044	NM_020975.6(RET):c.2801+19C>T	LOC130003710, RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 1962949	NM_020975.6(RET):c.15G>A (p.Thr5=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 1796199	NM_020975.6(RET):c.27G>C (p.Ala9=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1796194	NM_020975.6(RET):c.27G>A (p.Ala9=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1796116	NM_020975.6(RET):c.2799T>C (p.Asp933=)	LOC130003710, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1792215	NM_020975.6(RET):c.24C>T (p.Ala8=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1790712	NM_020975.6(RET):c.23C>T (p.Ala8Val)	LOC106736614, RET (A8V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1784210	NM_020975.6(RET):c.-1G>A	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1782267	NM_020975.6(RET):c.18C>G (p.Ser6=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1782262	NM_020975.6(RET):c.18C>A (p.Ser6=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1776161	NM_020975.6(RET):c.15G>T (p.Thr5=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1771753	NM_020975.6(RET):c.13A>G (p.Thr5Ala)	LOC106736614, RET (T5A)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 1756637	NM_020975.6(RET):c.-7_-4del	LOC106736614, RET	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1751015	NM_020975.6(RET):c.-5G>C	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1736907	NM_020975.6(RET):c.-3G>A	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1661821	NM_020975.6(RET):c.2801+8T>C	LOC130003710, RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 1655052	NM_020975.6(RET):c.2801+11del	LOC130003710, RET	Deletion (intron variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 1565027	NM_020975.6(RET):c.2801+13G>A	LOC130003710, RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 1486379	NM_020975.6(RET):c.14C>T (p.Thr5Met)	LOC106736614, RET (T5M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1426573	NM_020975.6(RET):c.29G>C (p.Gly10Ala)	LOC106736614, RET (G10A)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 1406841	NM_020975.6(RET):c.20G>T (p.Gly7Val)	LOC106736614, RET (G7V)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 1395989	NM_020975.6(RET):c.2801+3A>G	LOC130003710, RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 1321691	NM_020975.6(RET):c.-6C>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1319674	NM_020975.6(RET):c.1349G>T (p.Ser450Ile)	RET (S196I +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319672	NM_020975.6(RET):c.2801+17C>T	LOC130003710, RET	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1319670	NM_020975.6(RET):c.867+9C>T	RET	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1290350	NM_020975.6(RET):c.73+9189C>A	LOC110121502, MCS+9.7 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286863	NM_020975.6(RET):c.868-265G>A	LOC130003706, RET	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254248	NM_020975.6(RET):c.73+9189C>T	LOC110121502, MCS+9.7 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229701	NM_020975.6(RET):c.73+9331A>G	LOC110121502, MCS+9.7 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225708	NM_020975.6(RET):c.-68C>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1189903	NM_020975.6(RET):c.73+9385_73+9395del	LOC110121502, MCS+9.7 +1 more	Deletion (intron variant)	Multiple endocrine neoplasia, type 2 +2 more	GBenign/Likely benign
Select item 1061842	NM_020975.6(RET):c.35_55dup (p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu)	LOC106736614, RET	Duplication (inframe_indel +1 more)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 1053894	NM_020975.6(RET):c.35_52dup (p.Leu17_Leu18insArgLeuLeuLeuLeuLeu)	LOC106736614, RET	Duplication (inframe_indel +1 more)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 1035794	NM_020975.6(RET):c.29G>A (p.Gly10Glu)	LOC106736614, RET (G10E)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 1023866	NM_020975.6(RET):c.10G>A (p.Ala4Thr)	LOC106736614, RET (A4T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1020843	NM_020975.6(RET):c.5_28dup (p.Ala9_Gly10insAlaLysAlaThrSerGlyAlaAla)	LOC106736614, RET	Duplication (inframe_indel +2 more)	not specified +2 more	GUncertain significance
Select item 1011760	NM_020975.6(RET):c.16T>C (p.Ser6Pro)	LOC106736614, RET (S6P)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 1001221	NM_020975.6(RET):c.19G>A (p.Gly7Ser)	LOC106736614, RET (G7S)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 936337	NM_020975.6(RET):c.29G>T (p.Gly10Val)	LOC106736614, RET (G10V)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 932072	NM_020975.6(RET):c.2631del (p.Arg878fs)	RET (R624fs +1 more)	Deletion (frameshift variant)	Multiple endocrine neoplasia, type 2b	GPathogenic
Select item 931231	NM_020975.6(RET):c.1162G>T (p.Val388Phe)	RET (V388F +6 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2b	GUncertain significance
Select item 930672	NM_020975.6(RET):c.2313C>G (p.Asp771Glu)	RET (D517E +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2b	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 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 860225	NM_020975.6(RET):c.11C>T (p.Ala4Val)	LOC106736614, RET (A4V)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 842268	NM_020975.6(RET):c.22G>T (p.Ala8Ser)	LOC106736614, RET (A8S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 840153	NM_020975.6(RET):c.14C>G (p.Thr5Arg)	LOC106736614, RET (T5R)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 825359	NM_020975.6(RET):c.-4G>A	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 819613	NM_020975.6(RET):c.15G>C (p.Thr5=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 798629	NM_020975.6(RET):c.2801+8_2801+9del	LOC130003710, RET	Microsatellite (intron variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 767548	NM_020975.6(RET):c.6G>A (p.Ala2=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 762818	NM_020975.6(RET):c.2801+7G>A	LOC130003710, RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2	GLikely benign
Select item 695195	NM_020975.6(RET):c.73+9494A>C	RET, LOC110121502 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 662154	NM_020975.6(RET):c.30G>T (p.Gly10=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 655125	NM_020975.6(RET):c.16T>G (p.Ser6Ala)	LOC106736614, RET (S6A)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 618346	NM_020975.6(RET):c.1765A>T (p.Ser589Cys)	RET (S589C +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 584566	NM_020975.6(RET):c.7A>G (p.Lys3Glu)	LOC106736614, RET (K3E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 486316	NM_020975.6(RET):c.31C>A (p.Leu11Met)	LOC106736614, RET (L11M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 486313	NM_020975.6(RET):c.20G>A (p.Gly7Asp)	LOC106736614, RET (G7D)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +7 more	GUncertain significance
Select item 477374	NM_020975.6(RET):c.-37G>C	RET, LOC106736614	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 477368	NM_020975.6(RET):c.31C>T (p.Leu11=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GLikely benign
Select item 477365	NM_020975.6(RET):c.30G>A (p.Gly10=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 477355	NM_020975.6(RET):c.2801+9G>A	LOC130003710, RET	Single nucleotide variant (intron variant)	Multiple endocrine neoplasia, type 2	GConflicting classifications of pathogenicity
Select item 477331	NM_020975.6(RET):c.18C>T (p.Ser6=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 395039	GRCh37/hg19 10q11.21(chr10:43600657-43600691)x3	RET	Copy number gain	See cases	GBenign
Select item 394036	GRCh37/hg19 10q11.21(chr10:43600625-43600691)x3	RET	Copy number gain	See cases	GBenign
Select item 378478	NM_020975.6(RET):c.73+9201C>T	LOC110121502, MCS+9.7 +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 376312	NM_020975.6(RET):c.1834_1860del (p.Phe612_Cys620del)	RET	Deletion (inframe_indel +1 more)	Medullary thyroid carcinoma	GLikely pathogenic
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 2a +1 more	GLikely benign
Select item 299885	NM_020975.6(RET):c.-132G>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 299884	NM_020975.6(RET):c.-158G>A	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance

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