"GeneDx"[submitter] AND "GUCY2C-AS1"[gene] - ClinVar

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

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 1181182	NM_004963.4(GUCY2C):c.1282+280A>G	GUCY2C-AS1, GUCY2C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225472	NM_004963.4(GUCY2C):c.1171-88C>T	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1878780	NM_004963.4(GUCY2C):c.1121A>G (p.Asp374Gly)	GUCY2C, GUCY2C-AS1 (D374G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229630	NM_004963.4(GUCY2C):c.1085-295G>A	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253879	NM_004963.4(GUCY2C):c.1084+324C>T	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261865	NM_004963.4(GUCY2C):c.1084+93_1084+95del	GUCY2C, GUCY2C-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1220845	NM_004963.4(GUCY2C):c.949-146A>C	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277415	NM_004963.4(GUCY2C):c.949-261G>A	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294816	NM_004963.4(GUCY2C):c.948+330T>G	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226636	NM_004963.4(GUCY2C):c.948+253A>G	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268551	NM_004963.4(GUCY2C):c.948+86C>A	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170460	NM_004963.4(GUCY2C):c.843T>G (p.Phe281Leu)	GUCY2C, GUCY2C-AS1 (F281L)	Single nucleotide variant (missense variant)	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +2 more	GBenign
Select item 1278977	NM_004963.4(GUCY2C):c.831-271C>A	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230837	NM_004963.4(GUCY2C):c.734-144del	GUCY2C, GUCY2C-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1308574	NM_004963.4(GUCY2C):c.652C>T (p.His218Tyr)	GUCY2C-AS1, GUCY2C (H218Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252203	NM_004963.4(GUCY2C):c.612-287C>T	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280085	NM_004963.4(GUCY2C):c.611+260C>A	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309347	NM_004963.4(GUCY2C):c.611+5G>A	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 432841	NM_004963.4(GUCY2C):c.467C>T (p.Thr156Ile)	GUCY2C, GUCY2C-AS1 (T156I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1244309	NM_004963.4(GUCY2C):c.396-167T>C	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225761	NM_004963.4(GUCY2C):c.218-129G>A	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294839	NM_004963.4(GUCY2C):c.218-213GA[10]	GUCY2C, GUCY2C-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1512774	NM_004963.4(GUCY2C):c.52G>A (p.Gly18Arg)	GUCY2C, GUCY2C-AS1 (G18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1281386	NC_000012.12:g.14696646G>A	GUCY2C, GUCY2C-AS1	Single nucleotide variant	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26