ClinVar for MedGen (Select 766184) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248563	NM_004963.4(GUCY2C):c.1345G>C (p.Val449Leu)	GUCY2C (V449L)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GUncertain significance
Select item 3075691	NM_004963.4(GUCY2C):c.2328A>C (p.Glu776Asp)	GUCY2C (E776D)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GLikely pathogenic
Select item 2431538	NM_004963.4(GUCY2C):c.367T>A (p.Ser123Thr)	GUCY2C, GUCY2C-AS1 (S123T)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GUncertain significance
Select item 1696494	NM_004963.4(GUCY2C):c.2875+99A>G	GUCY2C, PLBD1-AS1	Single nucleotide variant (intron variant)	Congenital diarrhea 6	GUncertain significance
Select item 1526101	NM_004963.4(GUCY2C):c.2356T>C (p.Tyr786His)	GUCY2C (Y786H)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GUncertain significance
Select item 1429078	NM_004963.4(GUCY2C):c.1967A>G (p.Asn656Ser)	GUCY2C (N656S)	Single nucleotide variant (missense variant)	Congenital diarrhea 6 +2 more	GConflicting classifications of pathogenicity
Select item 1341819	NM_004963.4(GUCY2C):c.1562A>G (p.Asn521Ser)	GUCY2C (N521S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1267594	NM_004963.4(GUCY2C):c.1534-30C>G	GUCY2C	Single nucleotide variant (intron variant)	Congenital diarrhea 6 +2 more	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 1165268	NM_004963.4(GUCY2C):c.612-16C>A	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +2 more	GBenign
Select item 1031485	NM_004963.4(GUCY2C):c.2279A>G (p.Tyr760Cys)	GUCY2C (Y760C)	Single nucleotide variant (missense variant)	Congenital diarrhea 6 +1 more	GUncertain significance
Select item 977935	NM_004963.4(GUCY2C):c.1544T>C (p.Leu515Pro)	C12orf60, GUCY2C (L515P)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GUncertain significance
Select item 931137	NM_004963.4(GUCY2C):c.2324T>C (p.Leu775Pro)	C12orf60, GUCY2C (L775P)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GPathogenic
Select item 870488	NM_004963.4(GUCY2C):c.1540A>G (p.Ile514Val)	GUCY2C (I514V)	Single nucleotide variant (missense variant)	Meconium ileus +2 more	GConflicting classifications of pathogenicity
Select item 870487	NM_004963.4(GUCY2C):c.1997A>G (p.Tyr666Cys)	GUCY2C (Y666C)	Single nucleotide variant (missense variant)	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +3 more	GConflicting classifications of pathogenicity
Select item 402917	NM_004963.4(GUCY2C):c.612-11del	GUCY2C, GUCY2C-AS1	Deletion (intron variant)	Congenital diarrhea 6 +3 more	GBenign
Select item 402916	NM_004963.4(GUCY2C):c.2022C>T (p.Ile674=)	GUCY2C	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 402915	NM_004963.4(GUCY2C):c.2158-16dup	GUCY2C	Duplication (intron variant)	not specified +3 more	GBenign
Select item 30176	NM_004963.4(GUCY2C):c.2519G>T (p.Ser840Ile)	C12orf60, GUCY2C (S840I)	Single nucleotide variant (missense variant)	Congenital diarrhea 6	GPathogenic