LOC129936414[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 683540	NM_015141.3(GPD1L):c.-291G>A	LOC129936414, GPD1L	Single nucleotide variant	not provided	GBenign
Select item 1229730	NC_000003.12:g.32106485_32106502del	GPD1L, LOC129936414	Deletion	not provided	GBenign
Select item 671016	NM_015141.3(GPD1L):c.-227T>G	GPD1L, LOC129936414	Single nucleotide variant	not provided	GBenign
Select item 344722	NM_015141.3(GPD1L):c.-132G>A	GPD1L, LOC129936414	Single nucleotide variant	Brugada syndrome	GUncertain significance
Select item 1259211	NM_015141.3(GPD1L):c.-119C>T	GPD1L, LOC129936414	Single nucleotide variant	not provided	GBenign
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 1307864	NM_015141.4(GPD1L):c.1A>G (p.Met1Val)	GPD1L, LOC129936414 (M1V)	Single nucleotide variant (missense variant +1 more)	Brugada syndrome +2 more	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 190765	NM_015141.4(GPD1L):c.8del (p.Ala3fs)	GPD1L, LOC129936414 (A3fs)	Deletion (frameshift variant)	not provided	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 3226637	NM_015141.4(GPD1L):c.11C>A (p.Ala4Glu)	GPD1L, LOC129936414 (A4E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1038767	NM_015141.4(GPD1L):c.14C>T (p.Pro5Leu)	LOC129936414, GPD1L (P5L)	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 2173938	NM_015141.4(GPD1L):c.27C>T (p.Cys9=)	GPD1L, LOC129936414	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
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 971575	NM_015141.4(GPD1L):c.41G>A (p.Gly14Glu)	GPD1L, LOC129936414 (G14E)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
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 1429490	NM_015141.4(GPD1L):c.47+1G>A	GPD1L, LOC129936414	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GUncertain significance

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Items: 23