Related gene-specific medical variations for Gene (Select 2934) - ClinVar - NCBI

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

Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374701	NM_198252.3(GSN):c.749A>G (p.Tyr250Cys)	GSN (Y250C +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis	GPathogenic
Select item 3348707	NM_198252.3(GSN):c.-10+4584G>A	GSN, LOC126860753 (M1I)	Single nucleotide variant (missense variant +3 more)	GSN-related disorder	GUncertain significance
Select item 3245280	NC_000009.11:g.(?_124092234)_(124094793_?)del	GSN	Deletion	not provided	GUncertain significance
Select item 3245279	NC_000009.11:g.(?_124062140)_(124094881_?)dup	GSN	Duplication	not provided	GUncertain significance
Select item 3058775	NM_198252.3(GSN):c.-10+908C>T	GSN, GSN-AS1 +1 more (R7C)	Single nucleotide variant (missense variant +3 more)	GSN-related disorder	GLikely benign
Select item 3040327	NM_198252.3(GSN):c.-10+4624G>T	GSN, LOC126860753	Single nucleotide variant (intron variant +1 more)	GSN-related disorder	GLikely benign
Select item 2665078	NM_198252.3(GSN):c.1326-1036C>T	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis	GUncertain significance
Select item 2659477	NM_198252.3(GSN):c.-10+5185A>T	GSN, LOC126860753 (M1L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2659476	NM_198252.3(GSN):c.-10+5174_-10+5203del	GSN, LOC126860753	Deletion (intron variant +2 more)	not provided	GUncertain significance
Select item 1287428	NM_198252.3(GSN):c.-10+4781A>G	GSN, LOC126860753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267128	NM_198252.3(GSN):c.-10+4621T>C	GSN, LOC126860753 (W14R)	Single nucleotide variant (intron variant +2 more)	not provided	GBenign
Select item 1244182	NM_198252.3(GSN):c.-10+1155C>T	GSN, GSN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 688930	GRCh37/hg19 9q33.2(chr9:124034075-124096249)x3	GSN	Copy number gain	not provided	GUncertain significance
Select item 591895	NM_198252.3(GSN):c.1390_1392delinsTAT (p.Glu464Tyr)	GSN (E472Y +7 more)	Indel (missense variant)	not provided	GUncertain significance