"Ambry Genetics"[submitter] AND "RXYLT1"[gene] - ClinVar

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

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 540603	NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg)	RXYLT1 (K6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3157317	NM_014254.3(RXYLT1):c.47A>G (p.Tyr16Cys)	RXYLT1 (Y16C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 376769	NM_014254.3(RXYLT1):c.70G>C (p.Ala24Pro)	RXYLT1 (A24P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2482479	NM_014254.3(RXYLT1):c.103G>C (p.Ala35Pro)	RXYLT1 (A35P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1308362	NM_014254.3(RXYLT1):c.116C>T (p.Ser39Phe)	RXYLT1 (S39F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3157314	NM_014254.3(RXYLT1):c.128T>G (p.Leu43Arg)	RXYLT1 (L43R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3157315	NM_014254.3(RXYLT1):c.133A>G (p.Lys45Glu)	RXYLT1 (K45E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 473413	NM_014254.3(RXYLT1):c.184G>A (p.Glu62Lys)	RXYLT1 (E62K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 218705	NM_014254.3(RXYLT1):c.250A>G (p.Ser84Gly)	RXYLT1 (S84G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3157316	NM_014254.3(RXYLT1):c.290A>G (p.Asp97Gly)	RXYLT1 (D97G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2164134	NM_014254.3(RXYLT1):c.298G>C (p.Val100Leu)	RXYLT1 (V100L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1055906	NM_014254.3(RXYLT1):c.347T>C (p.Ile116Thr)	RXYLT1 (I116T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2056756	NM_014254.3(RXYLT1):c.368C>T (p.Pro123Leu)	RXYLT1 (P123L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3315859	NM_014254.3(RXYLT1):c.457G>A (p.Gly153Arg)	RXYLT1 (G153R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3157318	NM_014254.3(RXYLT1):c.625G>A (p.Glu209Lys)	RXYLT1 (E209K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3157319	NM_014254.3(RXYLT1):c.626A>C (p.Glu209Ala)	RXYLT1 (E209A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1007347	NM_014254.3(RXYLT1):c.647A>G (p.Lys216Arg)	RXYLT1 (K216R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3157321	NM_014254.3(RXYLT1):c.709G>A (p.Val237Met)	RXYLT1 (V237M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3157322	NM_014254.3(RXYLT1):c.772A>G (p.Ser258Gly)	RXYLT1 (S258G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3315860	NM_014254.3(RXYLT1):c.863T>G (p.Ile288Ser)	RXYLT1 (I288S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157323	NM_014254.3(RXYLT1):c.868A>G (p.Lys290Glu)	RXYLT1 (K30E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537205	NM_014254.3(RXYLT1):c.893G>C (p.Cys298Ser)	RXYLT1 (C38S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1498859	NM_014254.3(RXYLT1):c.893G>A (p.Cys298Tyr)	RXYLT1 (C298Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 429848	NM_014254.3(RXYLT1):c.914+6T>G	RXYLT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 +2 more	GConflicting classifications of pathogenicity
Select item 2548571	NM_014254.3(RXYLT1):c.972G>T (p.Gln324His)	RXYLT1 (Q324H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435495	NM_014254.3(RXYLT1):c.992C>T (p.Pro331Leu)	RXYLT1 (P331L +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 +1 more	GUncertain significance
Select item 423360	NM_014254.3(RXYLT1):c.1091A>C (p.Asn364Thr)	RXYLT1, RXYLT1-AS1 (N364T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1380924	NM_014254.3(RXYLT1):c.1105C>G (p.His369Asp)	RXYLT1, RXYLT1-AS1 (H109D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1447208	NM_014254.3(RXYLT1):c.1270G>C (p.Glu424Gln)	RXYLT1, RXYLT1-AS1 (E164Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3157313	NM_014254.3(RXYLT1):c.1281G>A (p.Met427Ile)	RXYLT1, RXYLT1-AS1 (M427I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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: 30