"Ambry Genetics"[submitter] AND "LRRD1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2529172	NM_001161528.2(LRRD1):c.2544A>G (p.Ile848Met)	CYP51A1-AS1, LRRD1 (I848M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372437	NM_001161528.2(LRRD1):c.2239A>G (p.Thr747Ala)	LRRD1, CYP51A1-AS1 (T747A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621588	NM_001161528.2(LRRD1):c.2237A>G (p.Tyr746Cys)	CYP51A1-AS1, LRRD1 (Y97C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212087	NM_001161528.2(LRRD1):c.2173A>G (p.Ile725Val)	LRRD1, CYP51A1-AS1 (I725V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291066	NM_001161528.2(LRRD1):c.1943C>G (p.Ser648Cys)	CYP51A1-AS1, LRRD1 (S648C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206972	NM_001161528.2(LRRD1):c.1853C>T (p.Pro618Leu)	CYP51A1-AS1, LRRD1 (P618L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319114	NM_001161528.2(LRRD1):c.1833C>A (p.Ser611Arg)	CYP51A1-AS1, LRRD1 (S611R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203833	NM_001161528.2(LRRD1):c.1832G>T (p.Ser611Ile)	CYP51A1-AS1, LRRD1 (S611I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533813	NM_001161528.2(LRRD1):c.1760C>T (p.Ser587Leu)	CYP51A1-AS1, LRRD1 (S587L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216031	NM_001161528.2(LRRD1):c.1732T>G (p.Leu578Val)	LRRD1, CYP51A1-AS1 (L578V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529799	NM_001161528.2(LRRD1):c.1714C>T (p.Pro572Ser)	CYP51A1-AS1, LRRD1 (P572S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597714	NM_001161528.2(LRRD1):c.1672C>T (p.Leu558Phe)	CYP51A1-AS1, LRRD1 (L558F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209521	NM_001161528.2(LRRD1):c.1633A>T (p.Ile545Leu)	CYP51A1-AS1, LRRD1 (I545L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209520	NM_001161528.2(LRRD1):c.1632A>C (p.Gln544His)	CYP51A1-AS1, LRRD1 (Q544H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331120	NM_001161528.2(LRRD1):c.1463C>G (p.Ser488Cys)	CYP51A1-AS1, LRRD1 (S488C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528110	NM_001161528.2(LRRD1):c.1422C>A (p.Asn474Lys)	CYP51A1-AS1, LRRD1 (N474K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223551	NM_001161528.2(LRRD1):c.1403A>C (p.Lys468Thr)	LRRD1, CYP51A1-AS1 (K468T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263587	NM_001161528.2(LRRD1):c.1307G>A (p.Cys436Tyr)	CYP51A1-AS1, LRRD1 (C436Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493575	NM_001161528.2(LRRD1):c.1199T>C (p.Leu400Pro)	LRRD1, CYP51A1-AS1 (L400P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364052	NM_001161528.2(LRRD1):c.1072G>A (p.Asp358Asn)	CYP51A1-AS1, LRRD1 (D358N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347457	NM_001161528.2(LRRD1):c.1053A>G (p.Ile351Met)	LRRD1, CYP51A1-AS1 (I351M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2206602	NM_001161528.2(LRRD1):c.986A>G (p.Glu329Gly)	LRRD1, CYP51A1-AS1 (E329G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246210	NM_001161528.2(LRRD1):c.884T>A (p.Phe295Tyr)	LRRD1, CYP51A1-AS1 (F295Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350064	NM_001161528.2(LRRD1):c.778G>A (p.Glu260Lys)	CYP51A1-AS1, LRRD1 (E260K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594820	NM_001161528.2(LRRD1):c.626T>C (p.Leu209Ser)	CYP51A1-AS1, LRRD1 (L209S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319033	NM_001161528.2(LRRD1):c.465A>C (p.Glu155Asp)	LRRD1, CYP51A1-AS1 (E155D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537624	NM_001161528.2(LRRD1):c.416T>C (p.Leu139Pro)	CYP51A1-AS1, LRRD1 (L139P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618566	NM_001161528.2(LRRD1):c.300A>C (p.Leu100Phe)	CYP51A1-AS1, LRRD1 (L100F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352524	NM_001161528.2(LRRD1):c.221A>C (p.Lys74Thr)	CYP51A1-AS1, LRRD1 (K74T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2594819	NM_001161528.2(LRRD1):c.190A>G (p.Thr64Ala)	CYP51A1-AS1, LRRD1 (T64A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2286997	NM_001161528.2(LRRD1):c.82A>G (p.Lys28Glu)	CYP51A1-AS1, LRRD1 (K28E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign

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Items: 31