C0153574[trait identifier] AND "Database of Curated Mutations (DoCM)"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376455	NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met)	MTOR (I2500M)	Single nucleotide variant (missense variant)	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	GLikely pathogenic
Select item 376456	NM_004958.4(MTOR):c.7498A>T (p.Ile2500Phe)	MTOR (I2500F)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +3 more	GLikely pathogenic
Select item 376129	NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)	MTOR (S2215Y)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 156703	NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)	MTOR (S2215F)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 376457	NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr)	MTOR (S2215T)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +6 more	GLikely pathogenic
Select item 373003	NM_002524.5(NRAS):c.183A>T (p.Gln61His)	NRAS (Q61H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375874	NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)	NRAS (Q61L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 280409	NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)	NRAS (Q61P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13900	NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	NRAS (Q61R)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +4 more	GPathogenic OOncogenic
Select item 73058	NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)	NRAS (Q61K)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +3 more	GConflicting classifications of pathogenicity OOncogenic
Select item 219097	NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)	NRAS (G12A)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 40470	NM_002524.5(NRAS):c.35G>T (p.Gly12Val)	NRAS (G12V)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic OOncogenic
Select item 39648	NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	NRAS (G12D)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 177778	NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)	NRAS (G12S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 40469	NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	NRAS (G12R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 40468	NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)	NRAS (G12C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 376460	NM_005378.6(MYCN):c.131C>T (p.Pro44Leu)	MYCN, MYCNOS (P44L)	Single nucleotide variant (non-coding transcript variant +3 more)	Malignant neoplasm of body of uterus +5 more	GLikely pathogenic OLikely oncogenic
Select item 376542	NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr)	SOS1 (N233Y +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4	GLikely pathogenic
Select item 376697	NM_003400.4(XPO1):c.1712A>C (p.Glu571Ala)	XPO1 (E571A)	Single nucleotide variant (missense variant)	Breast neoplasm +4 more	GLikely pathogenic
Select item 376696	NM_003400.4(XPO1):c.1712A>T (p.Glu571Val)	XPO1 (E571V)	Single nucleotide variant (missense variant)	Breast neoplasm +4 more	GLikely pathogenic
Select item 376695	NM_003400.4(XPO1):c.1711G>A (p.Glu571Lys)	XPO1 (E571K)	Single nucleotide variant (missense variant)	Breast neoplasm +4 more	GLikely pathogenic
Select item 376464	NM_006164.5(NFE2L2):c.86A>G (p.Asp29Gly)	NFE2L2 (D13G +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant neoplasm of body of uterus +6 more	GLikely pathogenic
Select item 376463	NM_006164.5(NFE2L2):c.85G>A (p.Asp29Asn)	NFE2L2 (D13N +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant neoplasm of body of uterus +6 more	GLikely pathogenic
Select item 376462	NM_006164.5(NFE2L2):c.85G>T (p.Asp29Tyr)	NFE2L2 (D13Y +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant neoplasm of body of uterus +6 more	GLikely pathogenic
Select item 376461	NM_006164.5(NFE2L2):c.85G>C (p.Asp29His)	NFE2L2 (D13H +1 more)	Single nucleotide variant (missense variant +1 more)	Neoplasm of uterine cervix +6 more	GLikely pathogenic
Select item 376228	NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn)	CTNNB1, LOC126806658 (D32N +1 more)	Single nucleotide variant (missense variant)	Juvenile nasopharyngeal angiofibroma	GPathogenic
Select item 376054	NM_001904.4(CTNNB1):c.94G>C (p.Asp32His)	CTNNB1, LOC126806658 (D32H +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +8 more	GLikely pathogenic
Select item 17581	NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)	CTNNB1, LOC126806658 (D32Y +1 more)	Single nucleotide variant (missense variant)	Craniopharyngioma +11 more	GPathogenic/Likely pathogenic; other OOncogenic
Select item 376230	NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val)	CTNNB1, LOC126806658 (D32V +1 more)	Single nucleotide variant (missense variant)	Medulloblastoma +8 more	GLikely pathogenic
Select item 376229	NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala)	CTNNB1, LOC126806658 (D32A +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +8 more	GLikely pathogenic
Select item 17578	NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly)	CTNNB1, LOC126806658 (D32G +1 more)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +10 more	GPathogenic/Likely pathogenic
Select item 376393	NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr)	CTNNB1, LOC126806658 (S33T +1 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +10 more	GLikely pathogenic
Select item 376392	NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala)	CTNNB1, LOC126806658 (S33A +1 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +10 more	GLikely pathogenic
Select item 376391	NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro)	CTNNB1, LOC126806658 (S33P +1 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +10 more	GLikely pathogenic
Select item 376231	NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys)	CTNNB1, LOC126806658 (S33C +1 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +14 more	GLikely pathogenic; other OOncogenic
Select item 17583	NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)	CTNNB1, LOC126806658 (S33F +1 more)	Single nucleotide variant (missense variant)	Medulloblastoma +13 more	GPathogenic/Likely pathogenic; other
Select item 17577	NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)	CTNNB1, LOC126806658 (S33Y +1 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +13 more	GPathogenic/Likely pathogenic
Select item 376233	NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)	CTNNB1, LOC126806658 (G34R +1 more)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +9 more	GLikely pathogenic
Select item 376390	NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala)	CTNNB1, LOC126806658 (G34A +1 more)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +7 more	GLikely pathogenic
Select item 17584	NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)	CTNNB1, LOC126806658 (G34E +1 more)	Single nucleotide variant (missense variant)	Medulloblastoma +9 more	GPathogenic/Likely pathogenic; other
Select item 17582	NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)	CTNNB1, LOC126806658 (G34V +1 more)	Single nucleotide variant (missense variant)	Hepatoblastoma +11 more	GConflicting classifications of pathogenicity
Select item 376235	NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala)	CTNNB1, LOC126806658 (S37A +1 more)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +9 more	GLikely pathogenic
Select item 376234	NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro)	CTNNB1, LOC126806658 (S37P +1 more)	Single nucleotide variant (missense variant)	Neoplasm of stomach +9 more	GLikely pathogenic
Select item 375894	NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr)	CTNNB1, LOC126806658 (S37Y +1 more)	Single nucleotide variant (missense variant)	Neoplasm of stomach +10 more	GPathogenic/Likely pathogenic
Select item 17586	NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe)	CTNNB1, LOC126806658 (S37F +1 more)	Single nucleotide variant (missense variant)	Melanoma +11 more	GPathogenic/Likely pathogenic
Select item 17579	NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)	CTNNB1, LOC126806658 (S37C +1 more)	Single nucleotide variant (missense variant)	Lung adenocarcinoma +11 more	GPathogenic/Likely pathogenic
Select item 17580	NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)	CTNNB1, LOC126806658 (T41A +1 more)	Single nucleotide variant (missense variant)	Desmoid tumor	GLikely pathogenic
Select item 376394	NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn)	CTNNB1, LOC126806658 (T41N +1 more)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +7 more	GLikely pathogenic
Select item 17587	NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)	CTNNB1, LOC126806658 (T41I +1 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary	GLikely pathogenic
Select item 17589	NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)	CTNNB1, LOC126806658 (S45P +1 more)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +11 more	GPathogenic/Likely pathogenic OOncogenic
Select item 376242	NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys)	CTNNB1, LOC126806658 (S45C +1 more)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +8 more	GLikely pathogenic
Select item 375895	NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr)	CTNNB1, LOC126806658 (S45Y +1 more)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +8 more	GPathogenic/Likely pathogenic
Select item 17588	NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)	CTNNB1, LOC126806658 (S45F +1 more)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +11 more	GPathogenic/Likely pathogenic; other
Select item 376496	NM_006218.4(PIK3CA):c.112C>G (p.Arg38Gly)	PIK3CA (R38G)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +5 more	GLikely pathogenic
Select item 376494	NM_006218.4(PIK3CA):c.112C>A (p.Arg38Ser)	PIK3CA (R38S)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +5 more	GLikely pathogenic
Select item 376493	NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys)	PIK3CA (R38C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 376495	NM_006218.4(PIK3CA):c.113G>T (p.Arg38Leu)	PIK3CA (R38L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +5 more	GLikely pathogenic
Select item 376492	NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)	PIK3CA (R38H)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more	GLikely pathogenic OLikely oncogenic
Select item 376478	NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	PIK3CA (E81K)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 376049	NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	PIK3CA (R88Q)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +5 more	GPathogenic OOncogenic
Select item 376480	NM_006218.4(PIK3CA):c.316G>C (p.Gly106Arg)	PIK3CA (G106R)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +5 more	GLikely pathogenic
Select item 376479	NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)	PIK3CA (G106V)	Single nucleotide variant (missense variant)	CLOVES syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376482	NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)	PIK3CA (K111E)	Single nucleotide variant (missense variant)	Cowden syndrome 5	GPathogenic
Select item 376484	NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)	PIK3CA (K111R)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +10 more	GLikely pathogenic
Select item 376483	NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn)	PIK3CA (K111N)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 156446	NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)	PIK3CA (G118D)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome +3 more	GPathogenic
Select item 376498	NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	PIK3CA (V344M)	Single nucleotide variant (missense variant)	Cowden syndrome 5 +3 more	GPathogenic
Select item 376499	NM_006218.4(PIK3CA):c.1031T>C (p.Val344Ala)	PIK3CA (V344A)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +7 more	GLikely pathogenic
Select item 376497	NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly)	PIK3CA (V344G)	Single nucleotide variant (missense variant)	Breast neoplasm +8 more	GLikely pathogenic
Select item 376490	NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His)	PIK3CA (N345H)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +9 more	GLikely pathogenic
Select item 376489	NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)	PIK3CA (N345T)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more	GPathogenic
Select item 376488	NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile)	PIK3CA (N345I)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +9 more	GLikely pathogenic
Select item 376050	NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)	PIK3CA (N345K)	Single nucleotide variant (missense variant)	Congenital macrodactylia +14 more	GPathogenic
Select item 376469	NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly)	PIK3CA (C420G)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +6 more	GLikely pathogenic
Select item 31945	NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	PIK3CA (C420R)	Single nucleotide variant (missense variant)	Cowden syndrome +7 more	GPathogenic OOncogenic
Select item 376471	NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln)	PIK3CA (E453Q)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +9 more	GLikely pathogenic
Select item 376470	NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	PIK3CA (E453K)	Single nucleotide variant (missense variant)	CLOVES syndrome +5 more	GPathogenic
Select item 376472	NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp)	PIK3CA (E453D)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma +9 more	GLikely pathogenic
Select item 376244	NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)	PIK3CA (E542Q)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +17 more	GPathogenic/Likely pathogenic
Select item 31944	NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	PIK3CA (E542K)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 376475	NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)	PIK3CA (E542G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 376474	NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val)	PIK3CA (E542V)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +15 more	GLikely pathogenic
Select item 376473	NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)	PIK3CA (E542A)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +16 more	GPathogenic/Likely pathogenic
Select item 375896	NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)	PIK3CA (E545Q)	Single nucleotide variant (missense variant)	Small cell lung carcinoma +26 more	GPathogenic/Likely pathogenic; drug response
Select item 13655	NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	PIK3CA (E545K)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic OOncogenic
Select item 13659	NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)	PIK3CA (E545A)	Single nucleotide variant (missense variant)	Ovarian neoplasm	GPathogenic
Select item 13656	NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)	PIK3CA (E545G)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome	GPathogenic
Select item 217293	NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	PIK3CA (E545D)	Single nucleotide variant (missense variant)	Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more	GPathogenic/Likely pathogenic
Select item 13657	NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)	PIK3CA (Q546K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13654	NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)	PIK3CA (Q546E)	Single nucleotide variant (missense variant)	Uterine carcinosarcoma +13 more	GPathogenic/Likely pathogenic
Select item 375899	NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu)	PIK3CA (Q546L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +12 more	GPathogenic/Likely pathogenic
Select item 375898	NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro)	PIK3CA (Q546P)	Single nucleotide variant (missense variant)	PIK3CA related overgrowth syndrome	GPathogenic
Select item 45466	NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)	PIK3CA (Q546R)	Single nucleotide variant (missense variant)	Ovarian neoplasm +3 more	GPathogenic OOncogenic
Select item 376491	NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His)	PIK3CA (Q546H)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +12 more	GLikely pathogenic
Select item 376487	NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)	PIK3CA (M1043L)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +10 more	GLikely pathogenic
Select item 376485	NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)	PIK3CA (M1043V)	Single nucleotide variant (missense variant)	Breast neoplasm +11 more	GLikely pathogenic OOncogenic
Select item 376486	NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)	PIK3CA (M1043T)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +10 more	GLikely pathogenic
Select item 179173	NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	PIK3CA (M1043I)	Single nucleotide variant (missense variant)	Cowden syndrome +3 more	GPathogenic/Likely pathogenic
Select item 39705	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA (H1047Y)	Single nucleotide variant (missense variant)	not provided +18 more	GPathogenic
Select item 13653	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	PIK3CA (H1047L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GPathogenic OOncogenic

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