Related gene-specific medical variations for Gene (Select 23171) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282141	NM_015141.4(GPD1L):c.8C>T (p.Ala3Val)	GPD1L, LOC129936414 (A3V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226637	NM_015141.4(GPD1L):c.11C>A (p.Ala4Glu)	GPD1L, LOC129936414 (A4E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2955446	NM_015141.4(GPD1L):c.9G>A (p.Ala3=)	GPD1L, LOC129936414	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2911905	NM_015141.4(GPD1L):c.44A>G (p.Asn15Ser)	GPD1L, LOC129936414 (N15S)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2662773	NM_015141.4(GPD1L):c.5C>T (p.Ala2Val)	GPD1L, LOC129936414 (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173938	NM_015141.4(GPD1L):c.27C>T (p.Cys9=)	GPD1L, LOC129936414	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1801384	NM_015141.4(GPD1L):c.225+2463_225+2505del	GPD1L	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1429490	NM_015141.4(GPD1L):c.47+1G>A	GPD1L, LOC129936414	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1307864	NM_015141.4(GPD1L):c.1A>G (p.Met1Val)	GPD1L, LOC129936414 (M1V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1038767	NM_015141.4(GPD1L):c.14C>T (p.Pro5Leu)	GPD1L, LOC129936414 (P5L)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 971575	NM_015141.4(GPD1L):c.41G>A (p.Gly14Glu)	GPD1L, LOC129936414 (G14E)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 750054	NM_015141.4(GPD1L):c.15C>T (p.Pro5=)	GPD1L, LOC129936414	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 666385	NM_015141.4(GPD1L):c.11C>T (p.Ala4Val)	GPD1L, LOC129936414 (A4V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 580300	NM_015141.4(GPD1L):c.38C>T (p.Ser13Leu)	GPD1L, LOC129936414 (S13L)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 578277	NM_015141.4(GPD1L):c.40G>A (p.Gly14Arg)	GPD1L, LOC129936414 (G14R)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 391851	NM_015141.4(GPD1L):c.-47C>G	GPD1L, LOC129936414	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 190765	NM_015141.4(GPD1L):c.8del (p.Ala3fs)	GPD1L, LOC129936414 (A3fs)	Deletion (frameshift variant)	not provided	GUncertain significance