C0235974[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 348048	NM_001166108.2(PALLD):c.*325del	CBR4, PALLD	Deletion (3 prime UTR variant)	not provided +1 more	GBenign
Select item 348050	NM_001166108.2(PALLD):c.*333ATA[3]	CBR4, PALLD	Microsatellite (3 prime UTR variant)	Carcinoma of pancreas	GLikely benign
Select item 348052	NM_001166108.2(PALLD):c.*829dup	CBR4, PALLD	Duplication (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 348062	NM_001166108.2(PALLD):c.1786_1787insATT	CBR4, PALLD	Insertion (3 prime UTR variant)	Carcinoma of pancreas	GUncertain significance
Select item 348071	NM_001166108.2(PALLD):c.*2156dup	CBR4, PALLD	Duplication (3 prime UTR variant)	Carcinoma of pancreas	GUncertain significance
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 348074	NM_001166108.2(PALLD):c.*2162ATCA[2]	CBR4, PALLD	Microsatellite (3 prime UTR variant)	not provided +1 more	GBenign
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 16580	NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	ERCC4 (R799W)	Single nucleotide variant (missense variant)	ERCC4-related condition +8 more	GConflicting classifications of pathogenicity
Select item 126757	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +11 more	GPathogenic
Select item 12351	NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	TP53 (P72R +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +16 more	GBenign
Select item 43588	NM_000546.6(TP53):c.139C>T (p.Pro47Ser)	TP53 (P47S +1 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GBenign FDA Recognized database
Select item 220942	NM_000546.6(TP53):c.97-6C>T	TP53	Single nucleotide variant (intron variant)	Li-Fraumeni syndrome 1 +17 more	GBenign/Likely benign
Select item 128031	NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)	HOXB13 (G84E)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity; association
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 183733	NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)	SMAD4 (T7M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 182869	NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)	SMAD4 (A226V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
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 30150	NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	SMAD4 (I500V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +8 more	GPathogenic
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 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 127707	NM_000455.5(STK11):c.894C>A (p.Phe298Leu)	STK11 (F298L)	Single nucleotide variant (missense variant)	STK11-related condition +5 more	GConflicting classifications of pathogenicity
Select item 7461	NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)	LOC130062899, STK11 (F354L)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +7 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 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	Colorectal cancer +19 more	GPathogenic

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Items: 29