ClinVar for MedGen (Select 104917) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257753	NM_000546.6(TP53):c.373_375+1delinsCCTT	TP53 (T125P +1 more)	Single nucleotide variant (synonymous variant +2 more)	Neoplasm	OLikely oncogenic
Select item 2584755	NM_000546.6(TP53):c.652del (p.Val218fs)	TP53 (V179fs +3 more)	Deletion (frameshift variant)	Adrenal cortex carcinoma	GLikely pathogenic
Select item 2584754	NM_000546.6(TP53):c.722_724del (p.Ser241del)	TP53 (S109del +3 more)	Deletion (inframe_deletion +1 more)	Adrenal cortex carcinoma	GLikely pathogenic
Select item 2503053	t(12;16)(q13.13;p11.2)	FUS, TFCP2	Translocation	Adrenal cortex carcinoma	GUncertain significance
Select item 2503052	Single allele	ALK	Deletion	Adrenal cortex carcinoma	GUncertain significance
Select item 1334890	Single allele	CDKN2C, FAF1	Deletion	Adrenal cortex carcinoma	GUncertain significance
Select item 1334889	Single allele	RAD52	Duplication	Adrenal cortex carcinoma	GUncertain significance
Select item 1334888	t(17;19)(q25.1;p13.3)	STK11	Translocation	Adrenal cortex carcinoma	GUncertain significance
Select item 1334887	Single allele	CTNNB1	Deletion	Adrenal cortex carcinoma	GUncertain significance
Select item 1334886	NM_000489.6(ATRX):c.3904del (p.Arg1302fs)	ATRX (R1264fs +1 more)	Deletion (frameshift variant)	Adrenal cortex carcinoma	GUncertain significance
Select item 1334885	NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)	ATRX (R2041* +1 more)	Single nucleotide variant (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 1334884	NM_000179.3(MSH6):c.3644T>A (p.Leu1215Ter)	MSH6 (L1085* +2 more)	Single nucleotide variant (nonsense)	Adrenal cortex carcinoma	GUncertain significance
Select item 1334880	NM_003072.5(SMARCA4):c.276G>C (p.Gln92His)	SMARCA4 (Q92H)	Single nucleotide variant (missense variant +1 more)	Adrenal cortex carcinoma	GUncertain significance
Select item 1334879	NM_004972.4(JAK2):c.2385G>T (p.Arg795Ser)	INSL6, JAK2 (R390S +2 more)	Single nucleotide variant (missense variant +1 more)	Adrenal cortex carcinoma	GUncertain significance
Select item 1334878	NM_006218.4(PIK3CA):c.2086G>A (p.Gly696Arg)	PIK3CA (G696R)	Single nucleotide variant (missense variant)	Adrenal cortex carcinoma	GUncertain significance
Select item 1334877	NM_000249.4(MLH1):c.884G>T (p.Ser295Ile)	MLH1 (S197I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1334876	NM_000051.4(ATM):c.1837_1839del (p.Val613del)	ATM (V613del)	Deletion (inframe_deletion)	Adrenal cortex carcinoma	GUncertain significance
Select item 1069782	NM_001374828.1(ARID1B):c.4453C>T (p.Gln1485Ter)	ARID1B (Q1432* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 634785	NM_000546.6(TP53):c.437G>A (p.Trp146Ter)	TP53 (W107* +2 more)	Single nucleotide variant (nonsense +1 more)	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 634766	NM_000546.6(TP53):c.993+1G>T	TP53	Single nucleotide variant (splice donor variant)	Li-Fraumeni syndrome	GPathogenic
Select item 634754	NM_000546.6(TP53):c.661G>T (p.Glu221Ter)	TP53 (E182* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome +1 more	GPathogenic
Select item 634687	NM_000546.6(TP53):c.538G>T (p.Glu180Ter)	TP53 (E141* +3 more)	Single nucleotide variant (nonsense)	Li-Fraumeni syndrome 1	GPathogenic
Select item 578988	NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)	TP53 (Y126* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 428887	NM_000546.6(TP53):c.470T>C (p.Val157Ala)	TP53 (V118A +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 428884	NM_000546.6(TP53):c.313G>A (p.Gly105Ser)	TP53 (G105S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 406597	NM_000546.6(TP53):c.329G>T (p.Arg110Leu)	TP53 (R110L +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GPathogenic/Likely pathogenic
Select item 406579	NM_000546.6(TP53):c.574C>T (p.Gln192Ter)	TP53 (Q153* +3 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic OOncogenic
Select item 376692	NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)	TP53 (Y102N +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 376691	NM_000546.6(TP53):c.700T>C (p.Tyr234His)	TP53 (Y102H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 376690	NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)	TP53 (Y102S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376669	NM_000546.6(TP53):c.518T>A (p.Val173Glu)	TP53 (V134E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376668	NM_000546.6(TP53):c.517G>T (p.Val173Leu)	TP53 (V134L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GPathogenic/Likely pathogenic OOncogenic
Select item 376667	NM_000546.6(TP53):c.374C>G (p.Thr125Arg)	TP53 (T125R +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +4 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 376666	NM_000546.6(TP53):c.373A>C (p.Thr125Pro)	TP53 (T125P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376656	NM_000546.6(TP53):c.817C>A (p.Arg273Ser)	TP53 (R141S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic
Select item 376655	NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	TP53 (R141L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +15 more	GPathogenic OOncogenic
Select item 376651	NM_000546.6(TP53):c.637C>G (p.Arg213Gly)	TP53 (R174G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376650	NM_000546.6(TP53):c.638G>T (p.Arg213Leu)	TP53 (R174L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 376629	NM_000546.6(TP53):c.395A>T (p.Lys132Met)	TP53 (K132M +1 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome +2 more	GConflicting classifications of pathogenicity OLikely oncogenic
Select item 376628	NM_000546.6(TP53):c.394A>C (p.Lys132Gln)	TP53 (K132Q +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 376627	NM_000546.6(TP53):c.395A>C (p.Lys132Thr)	TP53 (K132T +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376626	NM_000546.6(TP53):c.394A>G (p.Lys132Glu)	TP53 (K132E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 376625	NM_000546.6(TP53):c.395A>G (p.Lys132Arg)	TP53 (K132R +1 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome 1 +3 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 376624	NM_000546.6(TP53):c.396G>C (p.Lys132Asn)	TP53 (K132N +1 more)	Single nucleotide variant (missense variant +2 more)	Li-Fraumeni syndrome	GLikely pathogenic FDA Recognized database
Select item 376584	NM_000546.6(TP53):c.823T>C (p.Cys275Arg)	TP53 (C143R +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 376583	NM_000546.6(TP53):c.824G>C (p.Cys275Ser)	TP53 (C143S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 376582	NM_000546.6(TP53):c.824G>T (p.Cys275Phe)	TP53 (C143F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic
Select item 376563	NM_000546.6(TP53):c.403T>G (p.Cys135Gly)	TP53 (C135G +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 376562	NM_000546.6(TP53):c.403T>A (p.Cys135Ser)	TP53 (C135S +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 376561	NM_000546.6(TP53):c.405C>G (p.Cys135Trp)	TP53 (C135W +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376560	NM_000546.6(TP53):c.403T>C (p.Cys135Arg)	TP53 (C135R +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 376559	NM_000546.6(TP53):c.404G>T (p.Cys135Phe)	TP53 (C135F +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 376481	NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)	PIK3CA (H1047Q)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +21 more	GLikely pathogenic
Select item 376434	NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg)	H3-3A (G34R)	Single nucleotide variant (missense variant)	Adrenal cortex carcinoma +3 more	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 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 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 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 376017	NM_000546.6(TP53):c.518T>C (p.Val173Ala)	TP53 (V134A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 376016	NM_000546.6(TP53):c.518T>G (p.Val173Gly)	TP53 (V134G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GConflicting classifications of pathogenicity
Select item 375947	NM_004333.6(BRAF):c.1780G>C (p.Asp594His)	BRAF (D594H +7 more)	Single nucleotide variant (missense variant)	Melanoma +9 more	GPathogenic/Likely 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 375874	NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)	NRAS (Q61L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 374257	NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)	KMT2A (S774fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
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 280409	NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)	NRAS (Q61P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 265357	NM_000546.6(TP53):c.734G>C (p.Gly245Ala)	TP53 (G113A +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 233951	NM_000546.6(TP53):c.517G>A (p.Val173Met)	TP53 (V134M +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 231214	NM_000546.6(TP53):c.638G>C (p.Arg213Pro)	TP53 (R174P +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic OOncogenic
Select item 231060	NM_000546.6(TP53):c.818G>C (p.Arg273Pro)	TP53 (R141P +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 219759	NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)	TP53 (Y102D +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 216465	NM_000546.6(TP53):c.374C>A (p.Thr125Lys)	TP53 (T125K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 215997	NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)	TP53 (C143Y +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 210045	NM_000516.7(GNAS):c.602G>T (p.Arg201Leu)	GNAS (R201L +5 more)	Single nucleotide variant (missense variant +1 more)	Hepatocellular carcinoma +10 more	GLikely pathogenic
Select item 186451	NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)	TP53 (C137Y +3 more)	Single nucleotide variant (missense variant)	Squamous cell carcinoma +6 more	GPathogenic
Select item 184863	NM_000546.6(TP53):c.413C>T (p.Ala138Val)	TP53 (A138V +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 183748	NM_000546.6(TP53):c.374C>T (p.Thr125Met)	TP53 (T125M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity OLikely oncogenic
Select item 141762	NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)	TP53 (C135Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 135359	NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	TP53 (R174Q +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 127820	NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)	TP53 (Y102C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GPathogenic/Likely pathogenic
Select item 127819	NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	TP53 (Y181C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 127817	NM_000546.6(TP53):c.580C>T (p.Leu194Phe)	TP53 (L155F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GPathogenic/Likely pathogenic
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 44813	NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)	BRAF (D594N +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 39705	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA (H1047Y)	Single nucleotide variant (missense variant)	Segmental undergrowth associated with mainly venous malformation with capillary component +18 more	GPathogenic
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 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 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 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 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 15934	NM_000516.7(GNAS):c.602G>A (p.Arg201His)	GNAS (R201H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic OOncogenic
Select item 15933	NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)	GNAS (R201C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic OOncogenic
Select item 13972	NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)	BRAF (D594G +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma +1 more	GConflicting classifications of pathogenicity
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 13653	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	PIK3CA (H1047L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GPathogenic OOncogenic
Select item 13652	NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	PIK3CA (H1047R)	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 12375	NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)	TP53 (L344P +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GLikely pathogenic FDA Recognized database
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database

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