23230[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59108	GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1	ALDH1A1, ANXA1 +90 more	Copy number loss	See cases	GPathogenic
Select item 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 144959	GRCh38/hg38 9q21.2(chr9:76996739-77415046)x1	FOXB2, LOC121331330 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1249099	NC_000009.12:g.77177103C>G	VPS13A, VPS13A-AS1	Single nucleotide variant	not provided	GBenign
Select item 1257124	NC_000009.12:g.77177159G>C	VPS13A, VPS13A-AS1	Single nucleotide variant	not provided	GBenign
Select item 1703371	NC_000009.12:g.77177276dup	LOC121331331, VPS13A +1 more	Duplication	not provided	GLikely benign
Select item 1301460	NC_000009.12:g.77177290T>C	LOC121331331, VPS13A +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 913418	NM_033305.2(VPS13A):c.-264G>C	VPS13A-AS1, LOC121331331 +1 more	Single nucleotide variant	Chorea-acanthocytosis	GUncertain significance
Select item 367336	NM_033305.2(VPS13A):c.-232G>C	LOC121331331, VPS13A +1 more	Single nucleotide variant	Chorea-acanthocytosis	GUncertain significance
Select item 913419	NM_033305.2(VPS13A):c.-183G>A	LOC121331331, VPS13A +1 more	Single nucleotide variant	Chorea-acanthocytosis	GUncertain significance
Select item 367337	NM_033305.2(VPS13A):c.-183G>C	LOC121331331, VPS13A +1 more	Single nucleotide variant	not provided +1 more	GBenign
Select item 367338	NM_033305.2(VPS13A):c.-181G>A	LOC121331331, VPS13A +1 more	Single nucleotide variant	Chorea-acanthocytosis +1 more	GBenign
Select item 367339	NM_033305.3(VPS13A):c.-158G>C	LOC121331331, VPS13A +1 more	Single nucleotide variant (5 prime UTR variant)	Chorea-acanthocytosis	GUncertain significance
Select item 367340	NM_033305.3(VPS13A):c.-150C>T	VPS13A, VPS13A-AS1	Single nucleotide variant (5 prime UTR variant)	Chorea-acanthocytosis	GUncertain significance
Select item 367341	NM_033305.3(VPS13A):c.-148C>T	VPS13A, VPS13A-AS1	Single nucleotide variant (5 prime UTR variant)	Chorea-acanthocytosis	GUncertain significance
Select item 914534	NM_033305.3(VPS13A):c.-16A>T	VPS13A-AS1, VPS13A	Single nucleotide variant (non-coding transcript variant +1 more)	Chorea-acanthocytosis	GUncertain significance
Select item 1698814	NM_033305.3(VPS13A):c.1A>T (p.Met1Leu)	VPS13A, VPS13A-AS1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Chorea-acanthocytosis	GLikely pathogenic
Select item 1132492	NM_033305.3(VPS13A):c.9C>T (p.Phe3=)	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2854156	NM_033305.3(VPS13A):c.12G>A (p.Glu4=)	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1325340	NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter)	VPS13A, VPS13A-AS1 (S5*)	Single nucleotide variant (non-coding transcript variant +1 more)	Chorea-acanthocytosis	GLikely pathogenic
Select item 1945256	NM_033305.3(VPS13A):c.21C>G (p.Val7=)	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1176570	NM_033305.3(VPS13A):c.24G>A (p.Val8=)	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2199947	NM_033305.3(VPS13A):c.36C>T (p.Asn12=)	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1623249	NM_033305.3(VPS13A):c.42C>T (p.Phe14=)	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1363347	NM_033305.3(VPS13A):c.49dup (p.Asp17fs)	VPS13A, VPS13A-AS1 (D17fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1581784	NM_033305.3(VPS13A):c.63C>T (p.Asp21=)	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1138807	NM_033305.3(VPS13A):c.64T>C (p.Leu22=)	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1075838	NM_033305.3(VPS13A):c.72dup (p.Ser25fs)	VPS13A, VPS13A-AS1 (S25fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2417842	NM_033305.3(VPS13A):c.72G>A (p.Thr24=)	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2768629	NM_033305.3(VPS13A):c.75C>T (p.Ser25=)	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1076960	NM_033305.3(VPS13A):c.78dup (p.Leu27fs)	VPS13A, VPS13A-AS1 (L27fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2025346	NM_033305.3(VPS13A):c.84T>C (p.Ser28=)	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1116668	NM_033305.3(VPS13A):c.84T>A (p.Ser28=)	VPS13A-AS1, VPS13A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2415961	NM_033305.3(VPS13A):c.87G>A (p.Leu29=)	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2796596	NM_033305.3(VPS13A):c.90C>T (p.Gly30=)	VPS13A-AS1, VPS13A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1564419	NM_033305.3(VPS13A):c.100+9GCC[6]	VPS13A, VPS13A-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1086619	NM_033305.3(VPS13A):c.100+8G>C	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1082460	NM_033305.3(VPS13A):c.100+9GCC[5]	VPS13A, VPS13A-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2909191	NM_033305.3(VPS13A):c.100+9G>C	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2693192	NM_033305.3(VPS13A):c.100+16C>T	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1570296	NM_033305.3(VPS13A):c.100+19C>T	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2896582	NM_033305.3(VPS13A):c.100+20C>T	VPS13A, VPS13A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1291837	NM_033305.3(VPS13A):c.100+200G>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241266	NM_033305.3(VPS13A):c.100+225G>A	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238872	NM_033305.3(VPS13A):c.101-296C>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219851	NM_033305.3(VPS13A):c.101-195G>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281861	NM_033305.3(VPS13A):c.101-175_101-174del	VPS13A	Deletion (intron variant)	not provided	GBenign
Select item 1185252	NM_033305.3(VPS13A):c.101-62A>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2915977	NM_033305.3(VPS13A):c.101-13del	VPS13A	Deletion (intron variant)	not provided	GBenign
Select item 2047625	NM_033305.3(VPS13A):c.101-17T>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 367342	NM_033305.3(VPS13A):c.101-14T>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GConflicting classifications of pathogenicity
Select item 2704265	NM_033305.3(VPS13A):c.101-13T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2154768	NM_033305.3(VPS13A):c.101-13T>A	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170190	NM_033305.3(VPS13A):c.101-3dup	VPS13A	Duplication (intron variant)	not provided	GBenign
Select item 695921	NM_033305.3(VPS13A):c.101-7T>C	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign/Likely benign
Select item 2992558	NM_033305.3(VPS13A):c.101-6T>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056231	NM_033305.3(VPS13A):c.101-4T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1593813	NM_033305.3(VPS13A):c.114C>T (p.Leu38=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989576	NM_033305.3(VPS13A):c.116A>G (p.Lys39Arg)	VPS13A (K39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252712	NM_033305.3(VPS13A):c.126A>C (p.Gln42His)	VPS13A (Q42H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 698510	NM_033305.3(VPS13A):c.126A>G (p.Gln42=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974819	NM_033305.3(VPS13A):c.132A>G (p.Lys44=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996013	NM_033305.3(VPS13A):c.135_139del (p.Glu45fs)	VPS13A (E45fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1658694	NM_033305.3(VPS13A):c.138T>C (p.Asn46=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139275	NM_033305.3(VPS13A):c.141C>A (p.Ala47=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1113746	NM_033305.3(VPS13A):c.141C>T (p.Ala47=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2147216	NM_033305.3(VPS13A):c.142C>T (p.Leu48=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2577483	NM_033305.3(VPS13A):c.144+1G>C	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis	GPathogenic
Select item 1400141	NM_033305.3(VPS13A):c.144+3A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2003807	NM_033305.3(VPS13A):c.144+10G>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1158648	NM_033305.3(VPS13A):c.144+10G>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706368	NM_033305.3(VPS13A):c.144+14A>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569935	NM_033305.3(VPS13A):c.144+15T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239444	NM_033305.3(VPS13A):c.144+236T>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202057	NM_033305.3(VPS13A):c.145-206A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958389	NM_033305.3(VPS13A):c.145-19A>G	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779609	NM_033305.3(VPS13A):c.145-14A>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835990	NM_033305.3(VPS13A):c.145-13A>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797156	NM_033305.3(VPS13A):c.145-7dup	VPS13A	Duplication (intron variant)	not provided	GBenign
Select item 2888895	NM_033305.3(VPS13A):c.145-4G>C	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853084	NM_033305.3(VPS13A):c.145-4G>T	VPS13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1433804	NM_033305.3(VPS13A):c.145-2A>T	VPS13A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1905117	NM_033305.3(VPS13A):c.150A>G (p.Gln50=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 367343	NM_033305.3(VPS13A):c.159A>G (p.Val53=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +1 more	GConflicting classifications of pathogenicity
Select item 1120411	NM_033305.3(VPS13A):c.162A>G (p.Pro54=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744507	NM_033305.3(VPS13A):c.165del (p.Phe55fs)	VPS13A (F55fs)	Deletion (frameshift variant)	not provided	GPathogenic

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