GPD1L[gene] - ClinVar - NCBI

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	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 1182620	NC_000003.12:g.32106298G>A	GPD1L	Single nucleotide variant	not provided	GBenign
Select item 672822	NM_015141.3(GPD1L):c.-365G>A	GPD1L	Single nucleotide variant	not provided	GLikely benign
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)	Cardiovascular phenotype +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 3282141	NM_015141.4(GPD1L):c.8C>T (p.Ala3Val)	GPD1L, LOC129936414 (A3V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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)	GPD1L, LOC129936414 (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
Select item 2445719	NM_015141.4(GPD1L):c.47+17T>C	GPD1L	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2837793	NM_015141.4(GPD1L):c.47+19G>C	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1260903	NM_015141.4(GPD1L):c.48-154_48-145del	GPD1L	Deletion (intron variant)	not provided	GBenign
Select item 674190	NM_015141.4(GPD1L):c.48-128G>A	GPD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2727334	NM_015141.4(GPD1L):c.48-15C>T	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2073882	NM_015141.4(GPD1L):c.48-13A>G	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 507174	NM_015141.4(GPD1L):c.48-6_48-3dup	GPD1L	Duplication (intron variant)	not specified	GLikely benign
Select item 2561882	NM_015141.4(GPD1L):c.48-4G>A	GPD1L	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 1538656	NM_015141.4(GPD1L):c.48-4G>T	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1745344	NM_015141.4(GPD1L):c.50G>C (p.Gly17Ala)	GPD1L (G17A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1092037	NM_015141.4(GPD1L):c.54A>G (p.Ser18=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 1750389	NM_015141.4(GPD1L):c.58G>A (p.Val20Ile)	GPD1L (V20I)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 2737846	NM_015141.4(GPD1L):c.59T>C (p.Val20Ala)	GPD1L (V20A)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2809362	NM_015141.4(GPD1L):c.69A>C (p.Ile23=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 190760	NM_015141.4(GPD1L):c.81T>C (p.Asn27=)	GPD1L	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2176192	NM_015141.4(GPD1L):c.99A>T (p.Lys33Asn)	GPD1L (K33N)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1776571	NM_015141.4(GPD1L):c.104C>G (p.Ala35Gly)	GPD1L (A35G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1779800	NM_015141.4(GPD1L):c.105C>T (p.Ala35=)	GPD1L	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1284401	NM_015141.4(GPD1L):c.111A>C (p.Thr37=)	GPD1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2492364	NM_015141.4(GPD1L):c.116A>G (p.Lys39Arg)	GPD1L (K39R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3282143	NM_015141.4(GPD1L):c.119T>C (p.Met40Thr)	GPD1L (M40T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 849673	NM_015141.4(GPD1L):c.119T>G (p.Met40Arg)	GPD1L (M40R)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 1106154	NM_015141.4(GPD1L):c.126C>G (p.Val42=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1651793	NM_015141.4(GPD1L):c.132A>G (p.Glu44=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 1054969	NM_015141.4(GPD1L):c.134A>C (p.Glu45Ala)	GPD1L (E45A)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 3226638	NM_015141.4(GPD1L):c.137C>T (p.Thr46Ile)	GPD1L (T46I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1878912	NM_015141.4(GPD1L):c.137C>G (p.Thr46Arg)	GPD1L (T46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1081069	NM_015141.4(GPD1L):c.141G>A (p.Val47=)	GPD1L	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1496581	NM_015141.4(GPD1L):c.158C>G (p.Thr53Arg)	GPD1L (T53R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2795165	NM_015141.4(GPD1L):c.177C>T (p.Asp59=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 839422	NM_015141.4(GPD1L):c.179A>G (p.His60Arg)	GPD1L (H60R)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1663364	NM_015141.4(GPD1L):c.180T>C (p.His60=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2063782	NM_015141.4(GPD1L):c.189A>G (p.Val63=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 532108	NM_015141.4(GPD1L):c.192A>G (p.Lys64=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 1641278	NM_015141.4(GPD1L):c.195T>C (p.Tyr65=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 1785192	NM_015141.4(GPD1L):c.205C>T (p.His69Tyr)	GPD1L (H69Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 632847	NM_015141.4(GPD1L):c.215C>T (p.Pro72Leu)	GPD1L (P72L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2153693	NM_015141.4(GPD1L):c.216A>T (p.Pro72=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1311331	NM_015141.4(GPD1L):c.225_225+2del	GPD1L	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 519504	NM_015141.4(GPD1L):c.224T>G (p.Val75Gly)	GPD1L (V75G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2883866	NM_015141.4(GPD1L):c.225+14del	GPD1L	Deletion (intron variant)	Brugada syndrome	GLikely benign
Select item 2727541	NM_015141.4(GPD1L):c.225+13G>A	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2416507	NM_015141.4(GPD1L):c.225+20T>A	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 674299	NM_015141.4(GPD1L):c.225+175T>G	GPD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801384	NM_015141.4(GPD1L):c.225+2463_225+2505del	GPD1L	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1258429	NM_015141.4(GPD1L):c.226-118_226-117insGACA	GPD1L	Insertion (intron variant)	not provided	GBenign
Select item 1230042	NM_015141.4(GPD1L):c.226-114G>T	GPD1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212906	NM_015141.4(GPD1L):c.226-42G>C	GPD1L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2131931	NM_015141.4(GPD1L):c.226-7G>T	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2841941	NM_015141.4(GPD1L):c.226-4G>T	GPD1L	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1310299	NM_015141.4(GPD1L):c.229G>T (p.Ala77Ser)	GPD1L (A77S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059755	NM_015141.4(GPD1L):c.232A>G (p.Met78Val)	GPD1L (M78V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1435643	NM_015141.4(GPD1L):c.236C>G (p.Ser79Ter)	GPD1L (S79*)	Single nucleotide variant (nonsense)	Brugada syndrome	GUncertain significance
Select item 463283	NM_015141.4(GPD1L):c.238A>G (p.Asn80Asp)	GPD1L (N80D)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 241020	NM_015141.4(GPD1L):c.245G>T (p.Ser82Ile)	GPD1L (S82I)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 972552	NM_015141.4(GPD1L):c.246C>T (p.Ser82=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome +1 more	GLikely benign
Select item 787	NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys)	GPD1L	Single nucleotide variant (missense variant)	Brugada syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 2715191	NM_015141.4(GPD1L):c.249G>A (p.Glu83=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 560688	NM_015141.4(GPD1L):c.257A>G (p.Gln86Arg)	GPD1L (Q86R)	Single nucleotide variant (missense variant)	Brugada syndrome 2 +2 more	GUncertain significance
Select item 1975621	NM_015141.4(GPD1L):c.261_262insCTT (p.Asp87_Ala88insLeu)	GPD1L	Insertion (inframe_insertion)	Brugada syndrome	GUncertain significance
Select item 837097	NM_015141.4(GPD1L):c.261T>A (p.Asp87Glu)	GPD1L (D87E)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 999910	NM_015141.4(GPD1L):c.262G>A (p.Ala88Thr)	GPD1L (A88T)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1117400	NM_015141.4(GPD1L):c.264A>C (p.Ala88=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1614232	NM_015141.4(GPD1L):c.270G>A (p.Leu90=)	GPD1L	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1796690	NM_015141.4(GPD1L):c.283A>G (p.Ile95Val)	GPD1L (I95V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2128345	NM_015141.4(GPD1L):c.286C>T (p.Pro96Ser)	GPD1L (P96S)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1019899	NM_015141.4(GPD1L):c.287C>T (p.Pro96Leu)	GPD1L (P96L)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2775481	NM_015141.4(GPD1L):c.288C>G (p.Pro96=)	GPD1L	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 463284	NM_015141.4(GPD1L):c.291C>T (p.His97=)	GPD1L	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1797786	NM_015141.4(GPD1L):c.292C>G (p.Gln98Glu)	GPD1L (Q98E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 642597	NM_015141.4(GPD1L):c.293A>G (p.Gln98Arg)	GPD1L (Q98R)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 496434	NM_015141.4(GPD1L):c.293A>C (p.Gln98Pro)	GPD1L (Q98P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1798484	NM_015141.4(GPD1L):c.298A>C (p.Ile100Leu)	GPD1L (I100L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1016440	NM_015141.4(GPD1L):c.298A>G (p.Ile100Val)	GPD1L (I100V)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance

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