ClinVar for MedGen (Select 881196) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 236189	NM_014625.4(NPHS2):c.-79G>A	NPHS2	Single nucleotide variant (5 prime UTR variant)	Prednisolone response	Gdrug response
Select item 236188	NM_014625.4(NPHS2):c.104G>A (p.Gly35Asp)	NPHS2 (G35D)	Single nucleotide variant (missense variant)	Prednisolone response	Gdrug response
Select item 236187	NM_014625.4(NPHS2):c.275-56T>G	NPHS2	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236186	NM_014625.4(NPHS2):c.378+42T>G	NPHS2	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236185	NM_014625.4(NPHS2):c.451+23C>T	NPHS2	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236184	NM_014625.4(NPHS2):c.451+58A>T	NPHS2	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236183	NM_004621.6(TRPC6):c.171-69T>C	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236182	NM_004621.6(TRPC6):c.171-68G>A	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236181	NM_004621.6(TRPC6):c.419C>A (p.Ala140Glu)	TRPC6 (A140E)	Single nucleotide variant (missense variant)	Prednisolone response	Gdrug response
Select item 236180	NM_004621.6(TRPC6):c.455T>C (p.Leu152Pro)	TRPC6 (L152P)	Single nucleotide variant (missense variant)	Prednisolone response	Gdrug response
Select item 236179	NM_004621.6(TRPC6):c.539T>C (p.Ile180Thr)	TRPC6 (I180T)	Single nucleotide variant (missense variant)	Prednisolone response	Gdrug response
Select item 236178	NM_004621.6(TRPC6):c.945+174C>T	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236177	NM_004621.6(TRPC6):c.945+175A>T	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236176	NM_004621.6(TRPC6):c.946-8T>C	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236175	NM_004621.6(TRPC6):c.1293+45T>C	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236174	NM_004621.6(TRPC6):c.1293+48T>C	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236173	NM_004621.6(TRPC6):c.1293+54G>T	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236172	NM_004621.6(TRPC6):c.1294-53T>C	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236171	NM_004621.6(TRPC6):c.1294-23T>A	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236170	NM_004621.6(TRPC6):c.1440A>G (p.Ala480=)	TRPC6	Single nucleotide variant (synonymous variant)	Prednisolone response	Gdrug response
Select item 236169	NM_004621.6(TRPC6):c.1510+24T>C	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236168	NM_004621.6(TRPC6):c.1533A>G (p.Lys511=)	TRPC6	Single nucleotide variant (synonymous variant)	Prednisolone response	Gdrug response
Select item 236167	NM_004621.6(TRPC6):c.1745-50T>A	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236166	NM_004621.6(TRPC6):c.1766C>G (p.Ser589Cys)	TRPC6 (S589C)	Single nucleotide variant (missense variant)	Prednisolone response	Gdrug response
Select item 236165	NM_004621.6(TRPC6):c.2010-67A>T	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236164	NM_004621.6(TRPC6):c.2010-31T>C	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236163	NM_004621.6(TRPC6):c.2022T>C (p.Ser674=)	TRPC6	Single nucleotide variant (synonymous variant)	Prednisolone response	Gdrug response
Select item 236162	NM_004621.6(TRPC6):c.2142G>T (p.Thr714=)	TRPC6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 236161	NM_004621.6(TRPC6):c.2410-22T>C	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236160	NM_004621.6(TRPC6):c.2435T>C (p.Ile812Thr)	TRPC6 (I812T)	Single nucleotide variant (missense variant)	Prednisolone response	Gdrug response
Select item 236159	NM_004621.6(TRPC6):c.2455C>T (p.Leu819Phe)	TRPC6 (L819F)	Single nucleotide variant (missense variant)	Prednisolone response	Gdrug response
Select item 236158	NM_004621.6(TRPC6):c.2460A>G (p.Ser820=)	TRPC6	Single nucleotide variant (synonymous variant)	Prednisolone response	Gdrug response
Select item 236157	NM_004621.6(TRPC6):c.2485-44A>G	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236156	NM_004621.6(TRPC6):c.2485-14T>C	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236155	NM_004621.6(TRPC6):c.2644+27C>G	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236154	NM_004621.6(TRPC6):c.2644+29C>T	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236153	NM_004621.6(TRPC6):c.2644+78G>T	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236152	NM_004621.6(TRPC6):c.2645-8T>C	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236151	NM_004621.6(TRPC6):c.*86C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Prednisolone response	Gdrug response

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Links from MedGen

Items: 39