Related gene-specific medical variations for Gene (Select 4811) - ClinVar - NCBI

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

Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2617117	NM_002508.3(NID1):c.1246G>A (p.Ala416Thr)	LOC107546745, NID1 (A416T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548355	NM_002508.3(NID1):c.1219G>A (p.Ala407Thr)	LOC107546745, NID1 (A407T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380348	NM_002508.3(NID1):c.1159C>T (p.Arg387Cys)	LOC107546745, NID1 (R387C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1325590	NM_002508.3(NID1):c.1403G>A (p.Arg468His)	NID1 (R468H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281284	NM_002508.3(NID1):c.2528-261T>A	LOC107546746, NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242508	NM_002508.3(NID1):c.1136-56A>C	LOC107546745, NID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 983331	NM_002508.3(NID1):c.1663C>T (p.Arg555Cys)	NID1 (R555C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978147	NM_002508.3(NID1):c.614C>T (p.Thr205Met)	NID1 (T205M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788508	NM_002508.3(NID1):c.1160G>A (p.Arg387His)	LOC107546745, NID1 (R387H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 599313	NM_002508.3(NID1):c.2129-2427_2405-658del	NID1	Deletion (splice acceptor variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 66052	NM_002508.3(NID1):c.1162C>T (p.Gln388Ter)	LOC107546745, NID1 (Q388*)	Single nucleotide variant (nonsense)	Variant of unknown significance	GUncertain significance