LOC106736614[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 148036	GRCh38/hg38 10q11.21(chr10:42395216-43234240)x3	BMS1, CSGALNACT2 +41 more	Copy number gain	See cases	GUncertain significance
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 1186865	NC_000010.11:g.43076732C>A	LOC106736614, RET	Single nucleotide variant	not provided	GLikely benign
Select item 1250759	NC_000010.11:g.43076848G>A	LOC106736614, RET	Single nucleotide variant	not provided	GBenign
Select item 1195506	NC_000010.11:g.43076978C>T	LOC106736614, RET	Single nucleotide variant	not provided	GLikely benign
Select item 36721	NC_000010.11:g.43077015GCCCC[4]	LOC106736614, RET	Microsatellite (genic upstream transcript variant)	Multiple endocrine neoplasia type 2A	GUncertain significance
Select item 1189242	NC_000010.11:g.43077033C>T	LOC106736614, RET	Single nucleotide variant	not provided	GLikely benign
Select item 368898	NM_020630.5(RET):c.-200A>G	LOC106736614, RET	Single nucleotide variant	Renal hypodysplasia/aplasia 1 +4 more	GBenign
Select item 368899	NM_020975.5(RET):c.-196C>A	LOC106736614, RET	Single nucleotide variant	not provided +4 more	GBenign/Likely benign
Select item 299883	NM_020975.6(RET):c.-187C>A	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia +3 more	GUncertain significance
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 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 299884	NM_020975.6(RET):c.-158G>A	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Pheochromocytoma +3 more	GUncertain significance
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 1225708	NM_020975.6(RET):c.-68C>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 477374	NM_020975.6(RET):c.-37G>C	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3256491	NM_020975.6(RET):c.-30C>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3054907	NM_020975.6(RET):c.-23C>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	RET-related disorder	GLikely benign
Select item 662839	NC_000010.10:g.(?_43572697)_(43623727_?)dup	LOC110121502, LOC130003705 +8 more	Duplication	Multiple endocrine neoplasia, type 2	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 1321691	NM_020975.6(RET):c.-6C>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 477299	NC_000010.10:g.(?_43572701)_(43623723_?)dup	LOC130003709, LOC130003710 +8 more	Duplication	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 2447524	NM_020975.6(RET):c.2_7dup (p.Ala2_Lys3insMetAla)	LOC106736614, RET	Duplication (inframe_indel +2 more)	Multiple endocrine neoplasia, type 2 +1 more	GConflicting classifications of pathogenicity
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 3074853	NM_020975.6(RET):c.-4G>T	LOC106736614, RET	Single nucleotide variant (5 prime UTR 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 1736907	NM_020975.6(RET):c.-3G>A	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 229201	NM_020975.6(RET):c.-2C>A	LOC106736614, RET	Single nucleotide variant (5 prime UTR variant)	not provided +7 more	GConflicting classifications of pathogenicity
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 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 2914324	NM_020975.6(RET):c.5C>A (p.Ala2Glu)	LOC106736614, RET (A2E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 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 584566	NM_020975.6(RET):c.7A>G (p.Lys3Glu)	LOC106736614, RET (K3E)	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 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 1771753	NM_020975.6(RET):c.13A>G (p.Thr5Ala)	LOC106736614, RET (T5A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1486379	NM_020975.6(RET):c.14C>T (p.Thr5Met)	LOC106736614, RET (T5M)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +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 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 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 819613	NM_020975.6(RET):c.15G>C (p.Thr5=)	LOC106736614, RET	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 486313	NM_020975.6(RET):c.20G>A (p.Gly7Asp)	LOC106736614, RET (G7D)	Single nucleotide variant (missense variant)	not provided +7 more	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 3313699	NM_020975.6(RET):c.22G>A (p.Ala8Thr)	LOC106736614, RET (A8T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 842268	NM_020975.6(RET):c.22G>T (p.Ala8Ser)	LOC106736614, RET (A8S)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
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 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 3070336	NM_020975.6(RET):c.25G>T (p.Ala9Ser)	LOC106736614, RET (A9S)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
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 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 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 1061842	NM_020975.6(RET):c.35_55dup (p.Leu18_Leu19insArgLeuLeuLeuLeuLeuLeu)	LOC106736614, RET	Duplication (inframe_indel +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1053894	NM_020975.6(RET):c.35_52dup (p.Leu17_Leu18insArgLeuLeuLeuLeuLeu)	LOC106736614, RET	Duplication (inframe_indel +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1035794	NM_020975.6(RET):c.29G>A (p.Gly10Glu)	LOC106736614, RET (G10E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 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 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 486316	NM_020975.6(RET):c.31C>A (p.Leu11Met)	LOC106736614, RET (L11M)	Single nucleotide variant (missense variant)	not specified +2 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 136117	NM_020975.6(RET):c.31C>G (p.Leu11Val)	LOC106736614, RET (L11V)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance

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Items: 75