Related gene-specific medical variations for Gene (Select 10392) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 103110	NM_006092.4(NOD1):c.375A>G (p.Pro125=)	NOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 103109	NM_006092.4(NOD1):c.285T>C (p.Asp95=)	NOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 103108	NM_006092.4(NOD1):c.2697G>C (p.Lys899Asn)	NOD1 (K899N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 103107	NM_006092.4(NOD1):c.254T>A (p.Phe85Tyr)	NOD1 (F85Y)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 103106	NM_006092.4(NOD1):c.2537+81G>A	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103105	NM_006092.4(NOD1):c.2537+394T>A	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103104	NM_006092.4(NOD1):c.2537+344C>G	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103103	NM_006092.4(NOD1):c.2537+169A>C	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103102	NM_006092.4(NOD1):c.2454-116G>C	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103101	NM_006092.4(NOD1):c.2285+90G>A	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103100	NM_006092.4(NOD1):c.2285+372T>A	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103099	NM_006092.4(NOD1):c.2285+31T>C	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103098	NM_006092.4(NOD1):c.2285+220T>A	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103097	NM_006092.4(NOD1):c.2285+118C>T	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103096	NM_006092.4(NOD1):c.2285+112G>A	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103095	NM_006092.4(NOD1):c.2202-27C>T	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103094	NM_006092.4(NOD1):c.2201+36C>T	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103093	NM_006092.4(NOD1):c.2080G>A (p.Ala694Thr)	NOD1 (A694T)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 103092	NM_006092.4(NOD1):c.1492del (p.Leu498fs)	NOD1 (L498fs)	Deletion (frameshift variant +1 more)	not provided	Gnot provided
Select item 103091	NM_006092.4(NOD1):c.1458C>T (p.Ser486=)	NOD1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 103090	NM_006092.4(NOD1):c.1423C>T (p.Leu475Phe)	NOD1 (L475F)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 103089	NM_006092.4(NOD1):c.1369C>T (p.Arg457Trp)	NOD1 (R457W)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 103088	NM_006092.4(NOD1):c.-234G>A	NOD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 103087	NM_006092.4(NOD1):c.-211+198G>A	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103086	NM_006092.4(NOD1):c.-121-85G>C	NOD1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102943	NM_006092.3(NOD1):c.-523-629C>T	NOD1	Single nucleotide variant	not provided	Gnot provided
Select item 102942	NM_006092.3(NOD1):c.-523-142G>A	NOD1	Single nucleotide variant	not provided	Gnot provided
Select item 102941	NM_001354849.1(NOD1):c.-585G>C	NOD1	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 28