8733[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 60411	GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1	BOP1, CCDC166 +87 more	Copy number loss	See cases	GPathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 2432238	NM_003801.4(GPAA1):c.1A>C (p.Met1Leu)	GPAA1, LOC130001364 (M1L)	Single nucleotide variant (missense variant +1 more)	Glycosylphosphatidylinositol biosynthesis defect 15	GUncertain significance
Select item 1956496	NM_003801.4(GPAA1):c.6C>G (p.Gly2=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2446514	NM_003801.4(GPAA1):c.7C>G (p.Leu3Val)	GPAA1, LOC130001364 (L3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2313160	NM_003801.4(GPAA1):c.17A>G (p.Asp6Gly)	GPAA1, LOC130001364 (D6G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1514585	NM_003801.4(GPAA1):c.19C>T (p.Pro7Ser)	GPAA1, LOC130001364 (P7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498537	NM_003801.4(GPAA1):c.20C>T (p.Pro7Leu)	GPAA1, LOC130001364 (P7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013464	NM_003801.4(GPAA1):c.26G>A (p.Arg9His)	GPAA1, LOC130001364 (R9H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028656	NM_003801.4(GPAA1):c.29G>A (p.Arg10Gln)	GPAA1, LOC130001364 (R10Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2805751	NM_003801.4(GPAA1):c.33C>A (p.Arg11=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044303	NM_003801.4(GPAA1):c.35C>T (p.Ala12Val)	GPAA1, LOC130001364 (A12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989150	NM_003801.4(GPAA1):c.36G>A (p.Ala12=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1451609	NM_003801.4(GPAA1):c.43del (p.Arg15fs)	GPAA1, LOC130001364 (R15fs)	Deletion (frameshift variant)	Glycosylphosphatidylinositol biosynthesis defect 15 +1 more	GPathogenic/Likely pathogenic
Select item 1568567	NM_003801.4(GPAA1):c.45C>T (p.Arg15=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1375678	NM_003801.4(GPAA1):c.49G>T (p.Val17Leu)	GPAA1, LOC130001364 (V17L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2046547	NM_003801.4(GPAA1):c.51G>T (p.Val17=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1674063	NM_003801.4(GPAA1):c.51G>A (p.Val17=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103810	NM_003801.4(GPAA1):c.52C>G (p.Leu18Val)	GPAA1, LOC130001364 (L18V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433443	NM_003801.4(GPAA1):c.58C>T (p.Leu20Phe)	GPAA1, LOC130001364 (L20F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958455	NM_003801.4(GPAA1):c.62A>G (p.Asn21Ser)	GPAA1, LOC130001364 (N21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603879	NM_003801.4(GPAA1):c.63C>T (p.Asn21=)	GPAA1, LOC130001364	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1397011	NM_003801.4(GPAA1):c.74+1_74+3del	GPAA1, LOC130001364	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 2863830	NM_003801.4(GPAA1):c.74+1G>A	GPAA1, LOC130001364	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1427045	NM_003801.4(GPAA1):c.74+4A>G	GPAA1, LOC130001364	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1937130	NM_003801.4(GPAA1):c.74+9A>G	GPAA1, LOC130001364	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553512	NM_003801.4(GPAA1):c.74+15C>G	GPAA1, LOC130001364	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601488	NM_003801.4(GPAA1):c.74+16G>T	GPAA1, LOC130001364	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1674232	NM_003801.4(GPAA1):c.74+20A>C	GPAA1, LOC130001364	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1559771	NM_003801.4(GPAA1):c.75-20C>T	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781436	NM_003801.4(GPAA1):c.75-15C>T	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655001	NM_003801.4(GPAA1):c.75-11CT[2]	GPAA1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1669447	NM_003801.4(GPAA1):c.75-5C>T	GPAA1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2713766	NM_003801.4(GPAA1):c.93G>A (p.Ala31=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1583379	NM_003801.4(GPAA1):c.111G>A (p.Leu37=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1440664	NM_003801.4(GPAA1):c.116T>C (p.Leu39Pro)	GPAA1 (L39P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2257677	NM_003801.4(GPAA1):c.125C>T (p.Pro42Leu)	GPAA1 (P42L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1580119	NM_003801.4(GPAA1):c.129G>A (p.Pro43=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960995	NM_003801.4(GPAA1):c.135C>T (p.Thr45=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429721	NM_003801.4(GPAA1):c.137A>G (p.Gln46Arg)	GPAA1 (Q46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1401148	NM_003801.4(GPAA1):c.139C>G (p.Arg47Gly)	GPAA1 (R47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490840	NM_003801.4(GPAA1):c.140G>A (p.Arg47His)	GPAA1 (R47H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645690	NM_003801.4(GPAA1):c.141C>G (p.Arg47=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1187326	NM_003801.4(GPAA1):c.149T>A (p.Met50Lys)	GPAA1 (M50K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 617925	NM_003801.4(GPAA1):c.152C>T (p.Ser51Leu)	GPAA1 (S51L)	Single nucleotide variant (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 15	GLikely pathogenic
Select item 1641521	NM_003801.4(GPAA1):c.159C>T (p.Asn53=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 453252	NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn)	GPAA1 (A54N)	Indel (missense variant)	Glycosylphosphatidylinositol biosynthesis defect 15	GUncertain significance
Select item 1941130	NM_003801.4(GPAA1):c.168C>T (p.Gly56=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421110	NM_003801.4(GPAA1):c.181G>A (p.Glu61Lys)	GPAA1 (E61K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361516	NM_003801.4(GPAA1):c.183G>T (p.Glu61Asp)	GPAA1 (E61D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005928	NM_003801.4(GPAA1):c.184G>T (p.Glu62Ter)	GPAA1 (E62*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3101087	NM_003801.4(GPAA1):c.197G>T (p.Gly66Val)	GPAA1 (G66V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2016646	NM_003801.4(GPAA1):c.202G>T (p.Asp68Tyr)	GPAA1 (D68Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362234	NM_003801.4(GPAA1):c.205C>T (p.Arg69Cys)	GPAA1 (R69C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062155	NM_003801.4(GPAA1):c.206G>T (p.Arg69Leu)	GPAA1 (R69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473457	NM_003801.4(GPAA1):c.220G>T (p.Ala74Ser)	GPAA1 (A74S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505422	NM_003801.4(GPAA1):c.221C>T (p.Ala74Val)	GPAA1 (A74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752044	NM_003801.4(GPAA1):c.228C>T (p.Asp76=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329865	NM_003801.4(GPAA1):c.236C>T (p.Ala79Val)	GPAA1 (A79V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2006584	NM_003801.4(GPAA1):c.238C>T (p.His80Tyr)	GPAA1 (H80Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762801	NM_003801.4(GPAA1):c.240C>T (p.His80=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1502977	NM_003801.4(GPAA1):c.242G>T (p.Arg81Leu)	GPAA1 (R81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438555	NM_003801.4(GPAA1):c.245A>G (p.Lys82Arg)	GPAA1 (K82R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997519	NM_003801.4(GPAA1):c.248A>G (p.Lys83Arg)	GPAA1 (K83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649889	NM_003801.4(GPAA1):c.249G>A (p.Lys83=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501916	NM_003801.4(GPAA1):c.254+6C>T	GPAA1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2858085	NM_003801.4(GPAA1):c.254+11G>A	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896236	NM_003801.4(GPAA1):c.255-10G>T	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645700	NM_003801.4(GPAA1):c.255-8G>A	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990438	NM_003801.4(GPAA1):c.255-6C>T	GPAA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1993885	NM_003801.4(GPAA1):c.269C>T (p.Ala90Val)	GPAA1 (A90V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2256646	NM_003801.4(GPAA1):c.278A>C (p.Glu93Ala)	GPAA1 (E93A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1367767	NM_003801.4(GPAA1):c.283A>G (p.Thr95Ala)	GPAA1 (T95A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078750	NM_003801.4(GPAA1):c.284C>T (p.Thr95Met)	GPAA1 (T95M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841137	NM_003801.4(GPAA1):c.285G>C (p.Thr95=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746685	NM_003801.4(GPAA1):c.285G>A (p.Thr95=)	GPAA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716318	NM_003801.4(GPAA1):c.289C>T (p.Arg97Trp)	GPAA1 (R97W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379842	NM_003801.4(GPAA1):c.290G>C (p.Arg97Pro)	GPAA1 (R97P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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