ClinVar for MedGen (Select 343992) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1188327	NM_013247.5(HTRA2):c.618C>G (p.Val206=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 898769	NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu)	HTRA2 (G26E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 897673	NM_013247.5(HTRA2):c.*267C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 897610	NM_013247.4(HTRA2):c.-136C>T	HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 897609	NM_181575.5(AUP1):c.-54C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GLikely benign
Select item 896084	NM_013247.5(HTRA2):c.*265C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 896083	NM_013247.5(HTRA2):c.1079G>A (p.Arg360His)	HTRA2 (R295H +2 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 896015	NM_181575.5(AUP1):c.-17C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 896014	NM_181575.5(AUP1):c.51-4C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GLikely benign
Select item 896013	NM_181575.5(AUP1):c.141C>T (p.Ile47=)	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 895799	NM_013247.5(HTRA2):c.1056C>T (p.Ser352=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 895798	NM_013247.5(HTRA2):c.1046-5C>G	HTRA2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 895797	NM_013247.5(HTRA2):c.937C>T (p.Leu313=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 741628	NM_013247.5(HTRA2):c.510C>T (p.His170=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 727861	NM_013247.5(HTRA2):c.354G>A (p.Leu118=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 337146	NM_032603.5(LOXL3):c.*84C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337145	NM_032603.5(LOXL3):c.*90T>C	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GBenign
Select item 337144	NM_032603.5(LOXL3):c.*108A>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337143	NM_032603.5(LOXL3):c.*178A>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GBenign
Select item 337142	NM_032603.5(LOXL3):c.*237G>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GBenign
Select item 337141	NM_013247.5(HTRA2):c.*291G>A	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337140	NM_013247.5(HTRA2):c.*249G>C	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337139	NM_013247.5(HTRA2):c.*94C>T	HTRA2, LOXL3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 337138	NM_013247.5(HTRA2):c.1346C>T (p.Thr449Ile)	HTRA2, LOXL3 (T449I +3 more)	Single nucleotide variant (missense variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GUncertain significance
Select item 337137	NM_013247.5(HTRA2):c.1155C>T (p.Pro385=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +3 more)	HTRA2-related condition +2 more	GLikely benign
Select item 337136	NM_013247.5(HTRA2):c.1131A>G (p.Leu377=)	HTRA2, LOXL3	Single nucleotide variant (synonymous variant +3 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 337135	NM_013247.5(HTRA2):c.1046-13C>T	HTRA2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337134	NM_013247.5(HTRA2):c.873T>C (p.Asn291=)	HTRA2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337133	NM_013247.5(HTRA2):c.825T>C (p.Val275=)	HTRA2, LOC129934143	Single nucleotide variant (synonymous variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 337132	NM_013247.5(HTRA2):c.627A>G (p.Arg209=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 337131	NM_013247.5(HTRA2):c.507-9C>A	LOC129934140, HTRA2	Single nucleotide variant (intron variant)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337130	NM_013247.5(HTRA2):c.507-10T>A	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337129	NM_013247.5(HTRA2):c.480C>G (p.Ala160=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to +3 more	GBenign/Likely benign
Select item 337128	NM_013247.5(HTRA2):c.241G>A (p.Ala81Thr)	HTRA2 (A81T)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337127	NM_013247.5(HTRA2):c.215T>C (p.Leu72Pro)	HTRA2 (L72P)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to +2 more	GBenign/Likely benign
Select item 337126	NM_013247.4(HTRA2):c.-86G>C	HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337125	NM_013247.4(HTRA2):c.-136C>G	HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337124	NM_013247.4(HTRA2):c.-146G>A	HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GBenign
Select item 337123	NM_013247.4(HTRA2):c.-216G>A	HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337122	NM_013247.4(HTRA2):c.-236G>C	HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337121	NM_181575.5(AUP1):c.-64C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337120	NM_181575.5(AUP1):c.-19C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337119	NM_181575.5(AUP1):c.-15C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GLikely benign
Select item 337118	NM_181575.5(AUP1):c.25C>T (p.Pro9Ser)	AUP1, HTRA2 (P9S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 337117	NM_181575.5(AUP1):c.90C>G (p.Leu30=)	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 337116	NM_181575.5(AUP1):c.129C>G (p.Leu43=)	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 30583	NM_013247.5(HTRA2):c.427C>G (p.Pro143Ala)	HTRA2 (P143A)	Single nucleotide variant (missense variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	Grisk factor
Select item 4342	NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser)	HTRA2 (A141S)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 8 +2 more	GBenign
Select item 4341	NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser)	HTRA2, LOXL3 (G399S)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GBenign/Likely benign

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Items: 49