ClinVar for MedGen (Select 65917) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065766	NM_033360.4(KRAS):c.490C>T (p.Arg164Ter)	KRAS (R164*)	Single nucleotide variant (nonsense +1 more)	Carcinoma of pancreas	GLikely pathogenic
Select item 1810321	GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3	BRCA1	Copy number gain	Fanconi anemia, complementation group S +3 more	Gnot provided
Select item 1696822	NM_000051.4(ATM):c.8584+1G>C	ATM, C11orf65	Single nucleotide variant (splice donor variant +1 more)	Carcinoma of pancreas	GLikely pathogenic
Select item 1461164	NM_005359.6(SMAD4):c.908C>A (p.Pro303His)	SMAD4 (P303H)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +5 more	GUncertain significance
Select item 1077095	NM_004629.2(FANCG):c.778-2A>C	FANCG	Single nucleotide variant (splice acceptor variant)	Carcinoma of pancreas	GLikely pathogenic
Select item 1077094	NM_000059.4(BRCA2):c.7415dup (p.Cys2473fs)	BRCA2 (C2473fs)	Duplication (frameshift variant)	Carcinoma of pancreas	GPathogenic
Select item 1077093	NM_007194.4(CHEK2):c.908+1540_1095+330del	CHEK2	Deletion (splice acceptor variant +1 more)	TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE +2 more	GPathogenic
Select item 1077092	NM_032043.3(BRIP1):c.1328_1334del (p.Cys443fs)	BRIP1 (C443fs)	Deletion (frameshift variant)	Carcinoma of pancreas	GPathogenic
Select item 1077091	NM_002691.4(POLD1):c.3148del (p.Arg1050fs)	POLD1 (R1050fs +1 more)	Deletion (frameshift variant +1 more)	Carcinoma of pancreas	GPathogenic
Select item 1046139	NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)	KRAS (A130I)	Indel (missense variant)	Malignant tumor of urinary bladder +12 more	GUncertain significance
Select item 1003211	NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe)	SMAD4 (Y276F)	Single nucleotide variant (missense variant)	Myhre syndrome +6 more	GUncertain significance
Select item 951459	NM_000546.6(TP53):c.677G>C (p.Gly226Ala)	TP53 (G187A +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +12 more	GUncertain significance
Select item 931293	NM_000455.5(STK11):c.716G>A (p.Trp239Ter)	STK11 (W239*)	Single nucleotide variant (nonsense)	Carcinoma of pancreas	GPathogenic
Select item 930894	NM_000455.5(STK11):c.375-19del	STK11	Deletion (intron variant)	Carcinoma of pancreas	GUncertain significance
Select item 922557	NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile)	SMAD4 (M543I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 889358	NM_005359.6(SMAD4):c.-69G>A	SMAD4	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GUncertain significance
Select item 655390	NM_021922.3(FANCE):c.929dup (p.Val311fs)	FANCE (V311fs)	Duplication (frameshift variant)	Fanconi anemia complementation group E +1 more	GPathogenic/Likely pathogenic
Select item 634682	NM_000546.6(TP53):c.817C>G (p.Arg273Gly)	TP53 (R141G +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +13 more	GPathogenic
Select item 630751	NM_005359.6(SMAD4):c.530A>C (p.His177Pro)	SMAD4 (H177P)	Single nucleotide variant (missense variant)	Carcinoma of pancreas +2 more	GUncertain significance
Select item 628325	NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu)	SMAD4 (M447L)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +5 more	GUncertain significance
Select item 626130	NM_033360.4(KRAS):c.112-5C>T	KRAS	Single nucleotide variant (intron variant)	Noonan syndrome 3 +12 more	GConflicting classifications of pathogenicity
Select item 620625	NM_033360.4(KRAS):c.101_106del	KRAS	Deletion (3 prime UTR variant +1 more)	Cerebral arteriovenous malformation +13 more	GUncertain significance
Select item 575340	NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg)	SMAD4 (G230R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GUncertain significance
Select item 496491	NM_033360.4(KRAS):c.4+5G>A	KRAS	Single nucleotide variant (intron variant)	Noonan syndrome 3 +12 more	GBenign/Likely benign
Select item 490165	NM_000455.5(STK11):c.358G>A (p.Glu120Lys)	STK11 (E120K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 482212	NM_000546.6(TP53):c.96+1G>T	TP53	Single nucleotide variant (splice donor variant)	Carcinoma of pancreas +12 more	GPathogenic/Likely pathogenic
Select item 460557	NM_005359.6(SMAD4):c.566G>A (p.Arg189His)	SMAD4 (R189H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 460530	NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)	SMAD4 (V407L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 458061	NM_000455.5(STK11):c.747C>T (p.Thr249=)	STK11	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 458048	NM_000455.5(STK11):c.486C>T (p.Asp162=)	STK11	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +4 more	GLikely benign
Select item 428908	NM_000546.6(TP53):c.559+1G>A	TP53	Single nucleotide variant (splice donor variant)	Familial cancer of breast +13 more	GPathogenic/Likely pathogenic
Select item 428873	NM_000546.6(TP53):c.389T>C (p.Leu130Pro)	TP53 (L130P +1 more)	Single nucleotide variant (missense variant +1 more)	Adrenocortical carcinoma, hereditary +12 more	GPathogenic
Select item 419954	NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)	SMAD4 (I61V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GUncertain significance
Select item 419554	NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val)	SMAD4 (L551V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +6 more	GUncertain significance
Select item 413431	NM_005359.6(SMAD4):c.1125C>T (p.Ala375=)	SMAD4	Single nucleotide variant (synonymous variant)	Myhre syndrome +5 more	GLikely benign
Select item 412534	NM_000455.5(STK11):c.558C>T (p.Thr186=)	STK11	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +6 more	GBenign/Likely benign
Select item 406605	NM_000546.6(TP53):c.760A>G (p.Ile254Val)	TP53 (I215V +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1	GLikely benign FDA Recognized database
Select item 403791	NM_000455.5(STK11):c.1195C>A (p.Gln399Lys)	STK11 (Q399K)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +3 more	GUncertain significance
Select item 393140	NM_005359.6(SMAD4):c.155A>T (p.Asp52Val)	SMAD4 (D52V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 389752	NM_000546.6(TP53):c.-12C>T	TP53	Single nucleotide variant (5 prime UTR variant)	not specified +13 more	GLikely benign
Select item 379556	NM_033360.4(KRAS):c.5-18A>G	KRAS	Single nucleotide variant (intron variant)	Acute myeloid leukemia +13 more	GBenign/Likely benign
Select item 376659	NM_000546.6(TP53):c.845G>C (p.Arg282Pro)	TP53 (R150P +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +14 more	GPathogenic/Likely pathogenic
Select item 376655	NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	TP53 (R141L +3 more)	Single nucleotide variant (missense variant)	Adrenocortical carcinoma, hereditary +14 more	GPathogenic
Select item 348074	NM_001166108.2(PALLD):c.*2162ATCA[2]	CBR4, PALLD	Microsatellite (3 prime UTR variant)	not provided +1 more	GBenign
Select item 348073	NM_001166108.2(PALLD):c.2155_2156del	CBR4, PALLD	Deletion (3 prime UTR variant)	Carcinoma of pancreas	GUncertain significance
Select item 348072	NM_001166108.2(PALLD):c.*2156del	PALLD, CBR4	Deletion (3 prime UTR variant)	Carcinoma of pancreas	GBenign
Select item 348071	NM_001166108.2(PALLD):c.*2156dup	CBR4, PALLD	Duplication (3 prime UTR variant)	Carcinoma of pancreas	GUncertain significance
Select item 348062	NM_001166108.2(PALLD):c.1786_1787insATT	CBR4, PALLD	Insertion (3 prime UTR variant)	Carcinoma of pancreas	GUncertain significance
Select item 348056	NM_001166108.2(PALLD):c.1011_1014dup	CBR4, PALLD	Duplication (3 prime UTR variant)	Carcinoma of pancreas	GUncertain significance
Select item 348052	NM_001166108.2(PALLD):c.*829dup	CBR4, PALLD	Duplication (3 prime UTR variant)	Carcinoma of pancreas	GUncertain significance
Select item 348050	NM_001166108.2(PALLD):c.*333ATA[3]	CBR4, PALLD	Microsatellite (3 prime UTR variant)	Carcinoma of pancreas	GLikely benign
Select item 348048	NM_001166108.2(PALLD):c.*325del	CBR4, PALLD	Deletion (3 prime UTR variant)	not provided +1 more	GBenign
Select item 348045	NM_001166108.2(PALLD):c.3145C>T (p.Arg1049Cys)	CBR4, PALLD (R1032C +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +2 more	GConflicting classifications of pathogenicity
Select item 348022	NM_001166108.2(PALLD):c.-139G>T	PALLD	Single nucleotide variant (5 prime UTR variant)	Carcinoma of pancreas	GUncertain significance
Select item 327114	NM_005359.6(SMAD4):c.*202A>G	SMAD4	Single nucleotide variant (3 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +4 more	GUncertain significance
Select item 254495	NM_000059.4(BRCA2):c.1989del (p.Phe663fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 246092	NM_000051.4(ATM):c.6096-9_6096-5del	ATM, C11orf65	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 241642	NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)	BRIP1	Deletion (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 237950	NM_000546.6(TP53):c.461G>A (p.Gly154Asp)	TP53 (G115D +2 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 1	GUncertain significance FDA Recognized database
Select item 234549	NM_000455.5(STK11):c.25C>G (p.Leu9Val)	STK11 (L9V)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +5 more	GUncertain significance
Select item 231829	NM_005359.6(SMAD4):c.70A>G (p.Met24Val)	SMAD4 (M24V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +7 more	GUncertain significance
Select item 220942	NM_000546.6(TP53):c.97-6C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome +17 more	GBenign/Likely benign
Select item 220264	NM_000455.5(STK11):c.1243C>G (p.Arg415Gly)	STK11 (R415G)	Single nucleotide variant (missense variant)	Carcinoma of pancreas +5 more	GUncertain significance
Select item 216652	NM_007194.4(CHEK2):c.846+4_846+7del	CHEK2	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 188234	NM_005359.6(SMAD4):c.172A>G (p.Ile58Val)	SMAD4 (I58V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +8 more	GUncertain significance
Select item 185866	NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)	SMAD4 (I179V)	Single nucleotide variant (missense variant)	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +7 more	GUncertain significance
Select item 184046	NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)	STK11 (G394S)	Single nucleotide variant (missense variant)	Embryonal rhabdomyosarcoma +7 more	GUncertain significance
Select item 183733	NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)	SMAD4 (T7M)	Single nucleotide variant (missense variant)	SMAD4-related condition +9 more	GConflicting classifications of pathogenicity
Select item 182970	NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	TP53 (R210* +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Adrenocortical carcinoma, hereditary +14 more	GPathogenic
Select item 182969	NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)	TP53 (G202R +3 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome	GUncertain significance FDA Recognized database
Select item 182947	NM_000546.6(TP53):c.672+18G>C	TP53	Single nucleotide variant (intron variant)	not specified +16 more	GBenign/Likely benign
Select item 182918	NM_000455.5(STK11):c.1148G>A (p.Arg383His)	STK11 (R383H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 182910	NM_000455.5(STK11):c.632G>A (p.Arg211Gln)	STK11 (R211Q)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 182902	NM_000455.5(STK11):c.719C>G (p.Ser240Trp)	STK11 (S240W)	Single nucleotide variant (missense variant)	Malignant tumor of testis +3 more	GLikely pathogenic
Select item 182870	NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser)	SMAD4 (N306S)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 182869	NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)	SMAD4 (A226V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +7 more	GConflicting classifications of pathogenicity
Select item 181974	NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	ATM, C11orf65 (R2032K)	Single nucleotide variant (missense variant +1 more)	ATM-related condition +5 more	GPathogenic/Likely pathogenic
Select item 180861	NM_033360.4(KRAS):c.389C>T (p.Ala130Val)	KRAS (A130V)	Single nucleotide variant (missense variant)	Noonan syndrome 3 +15 more	GUncertain significance
Select item 180052	NM_004985.5(KRAS):c.451-5652C>T	KRAS	Single nucleotide variant (intron variant)	Noonan syndrome 3 +12 more	GLikely benign
Select item 177714	NM_004985.5(KRAS):c.112-9C>T	KRAS	Single nucleotide variant (intron variant)	Noonan syndrome 3 +12 more	GLikely benign
Select item 142410	NM_000455.5(STK11):c.464+10C>T	STK11	Single nucleotide variant (intron variant)	STK11-related condition +8 more	GBenign/Likely benign
Select item 142320	NM_000546.6(TP53):c.542G>A (p.Arg181His)	TP53 (R142H +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 142253	NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)	SMAD4	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GPathogenic
Select item 142198	NM_000455.5(STK11):c.1012G>A (p.Val338Met)	LOC130062899, STK11 (V338M)	Single nucleotide variant (missense variant)	STK11-related condition +6 more	GConflicting classifications of pathogenicity
Select item 142165	NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)	SMAD4 (N369S)	Single nucleotide variant (missense variant)	Isolated thoracic aortic aneurysm +7 more	GConflicting classifications of pathogenicity
Select item 141954	NM_000455.5(STK11):c.1183A>G (p.Thr395Ala)	STK11 (T395A)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 141764	NM_000546.6(TP53):c.799C>T (p.Arg267Trp)	TP53 (R135W +3 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +14 more	GPathogenic/Likely pathogenic
Select item 141354	NM_000455.5(STK11):c.464+5G>A	STK11	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 141287	NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)	STK11 (K403R)	Single nucleotide variant (missense variant)	STK11-related condition +4 more	GConflicting classifications of pathogenicity
Select item 141128	NM_000455.5(STK11):c.566C>T (p.Thr189Ile)	STK11 (T189I)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 140786	NM_000546.5(TP53):c.319T>C (p.Tyr107His)	TP53 (Y107H +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 139219	NM_005359.6(SMAD4):c.1140-10T>C	SMAD4	Single nucleotide variant (intron variant)	Myhre syndrome +8 more	GConflicting classifications of pathogenicity
Select item 138061	NM_033360.4(KRAS):c.90C>T (p.Asp30=)	KRAS	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 136077	NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)	SMAD4 (Q224L)	Single nucleotide variant (missense variant)	SMAD4-related condition +8 more	GConflicting classifications of pathogenicity
Select item 135924	NM_000455.5(STK11):c.598-8C>T	STK11	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 135916	NM_000455.5(STK11):c.1194G>A (p.Ala398=)	STK11	Single nucleotide variant (synonymous variant)	Peutz-Jeghers syndrome +6 more	GBenign/Likely benign
Select item 133284	NM_000546.6(TP53):c.460G>A (p.Gly154Ser)	TP53 (G115S +2 more)	Single nucleotide variant (missense variant +1 more)	TP53-related condition +16 more	GUncertain significance
Select item 128089	NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)	CHEK2 (G306A +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	Predisposition to cancer +19 more	GPathogenic
Select item 128031	NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)	HOXB13 (G84E)	Single nucleotide variant (missense variant)	HOXB13-related disorders +7 more	GConflicting classifications of pathogenicity; association

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