Related gene-specific medical variations for Gene (Select 100128496) - ClinVar - NCBI

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

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Links from Gene

Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2375022	NM_178483.3(SCP2D1):c.290C>T (p.Pro97Leu)	SCP2D1, SCP2D1-AS1 (P97L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308133	NM_178483.3(SCP2D1):c.82G>A (p.Val28Ile)	SCP2D1, SCP2D1-AS1 (V28I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307581	NM_178483.3(SCP2D1):c.129G>T (p.Glu43Asp)	SCP2D1, SCP2D1-AS1 (E43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284963	NM_178483.3(SCP2D1):c.285G>A (p.Met95Ile)	SCP2D1, SCP2D1-AS1 (M95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274627	NM_178483.3(SCP2D1):c.63G>T (p.Gln21His)	SCP2D1, SCP2D1-AS1 (Q21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

Display options Sort by Relevance Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File