"GeneDx"[submitter] AND "GUCY1A1"[gene] - ClinVar - NCBI

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

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60201	GRCh38/hg38 4q32.1(chr4:155605468-156026047)x1	ASIC5, CTSO +6 more	Copy number loss	See cases	GUncertain significance
Select item 1699541	NM_001130682.3(GUCY1A1):c.1540G>A (p.Asp514Asn)	GUCY1A1 (D514N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372598	NM_001130682.3(GUCY1A1):c.1909C>T (p.Arg637Ter)	GUCY1A1 (R637* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File