CN074294[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447492	NM_000545.8(HNF1A):c.-4A>G	HNF1A	Single nucleotide variant (5 prime UTR variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 129234	NM_000545.8(HNF1A):c.51C>G (p.Leu17=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 14937	NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)	HNF1A (I27L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 134504	NM_000545.8(HNF1A):c.210C>T (p.Ser70=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 36815	NM_000545.8(HNF1A):c.252C>T (p.Pro84=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 129227	NM_000545.8(HNF1A):c.276C>T (p.Leu92=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 129233	NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)	HNF1A (A98V)	Single nucleotide variant (missense variant)	Monogenic diabetes +6 more	GBenign/Likely benign
Select item 36818	NM_000545.8(HNF1A):c.326+20C>A	HNF1A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 129236	NM_000545.8(HNF1A):c.864G>C (p.Gly288=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 134511	NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)	HNF1A (L389V)	Single nucleotide variant (missense variant)	Monogenic diabetes +5 more	GConflicting classifications of pathogenicity
Select item 129229	NM_000545.8(HNF1A):c.1375C>T (p.Leu459=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 129230	NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn)	HNF1A (S487N)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 129231	NM_000545.8(HNF1A):c.1501+7G>A	HNF1A	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 129232	NM_000545.8(HNF1A):c.1545G>A (p.Thr515=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 184907	NM_144997.7(FLCN):c.1692C>T (p.His564=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +7 more	GBenign/Likely benign
Select item 141725	NM_144997.7(FLCN):c.1269C>T (p.His423=)	FLCN	Single nucleotide variant (synonymous variant)	Familial spontaneous pneumothorax +7 more	GBenign/Likely benign
Select item 460577	NM_144997.7(FLCN):c.1062+7G>A	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +5 more	GBenign/Likely benign
Select item 36841	NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)	HNF1B	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +5 more	GBenign/Likely benign
Select item 36847	NM_000458.4(HNF1B):c.345-19C>T	HNF1B	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 193102	NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)	HNF1B (G76C)	Single nucleotide variant (missense variant)	HNF1B-related condition +4 more	GConflicting classifications of pathogenicity
Select item 36852	NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)	HNF1B (V25L)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 322951	NM_000458.4(HNF1B):c.-67C>T	HNF1B	Single nucleotide variant (5 prime UTR variant)	Renal cysts and diabetes syndrome +2 more	GBenign/Likely benign

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Items: 22