LOC126860792[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MIR3621, MIR3689A +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC112637025, LOC112639999 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003086, LOC130003087 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130003003, LOC130003004 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LCN15, LCN6 +265 more	Copy number loss	See cases	GPathogenic
Select item 145568	GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3	CAMSAP1, CARD9 +86 more	Copy number gain	See cases	GUncertain significance
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	LOC126860789, LOC126860790 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 59139	GRCh38/hg38 9q34.3(chr9:136323542-136565950)x1	C9orf163, CARD9 +46 more	Copy number loss	See cases	GPathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 148428	GRCh38/hg38 9q34.3(chr9:136405220-136608638)x1	C9orf163, ENTR1 +31 more	Copy number loss	See cases	GPathogenic
Select item 452574	NM_015160.3(PMPCA):c.544G>A (p.Glu182Lys)	LOC126860792, PMPCA (E182K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872155	NM_015160.3(PMPCA):c.551C>T (p.Thr184Met)	LOC126860792, PMPCA (T84M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501941	NM_015160.3(PMPCA):c.553C>T (p.Arg185Trp)	LOC126860792, PMPCA (R185W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 375401	NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln)	LOC126860792, PMPCA (R185Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GPathogenic
Select item 757555	NM_015160.3(PMPCA):c.564C>G (p.Val188=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967715	NM_015160.3(PMPCA):c.576G>A (p.Leu192=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3215847	NM_015160.3(PMPCA):c.604G>C (p.Glu202Gln)	LOC126860792, PMPCA (E202Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406836	NM_015160.3(PMPCA):c.607C>T (p.Pro203Ser)	LOC126860792, PMPCA (P103S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985640	NM_015160.3(PMPCA):c.622A>G (p.Met208Val)	LOC126860792, PMPCA (M108V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1598832	NM_015160.3(PMPCA):c.633+17G>A	LOC126860792, PMPCA	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 2 +1 more	GBenign/Likely benign
Select item 1256054	NM_015160.3(PMPCA):c.634-266T>G	LOC126860792, PMPCA	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 1236646	NM_015160.3(PMPCA):c.634-87G>T	LOC126860792, PMPCA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2721119	NM_015160.3(PMPCA):c.635C>T (p.Ala212Val)	LOC126860792, PMPCA (A212V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572476	NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)	PMPCA, LOC126860792 (R123C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 2223431	NM_015160.3(PMPCA):c.688G>A (p.Val230Ile)	LOC126860792, PMPCA (V230I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1271249	NM_015160.3(PMPCA):c.702C>T (p.Asn234=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2683091	NM_015160.3(PMPCA):c.704G>A (p.Arg235Gln)	LOC126860792, PMPCA (R104Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3215848	NM_015160.3(PMPCA):c.743C>G (p.Pro248Arg)	LOC126860792, PMPCA (P117R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 795196	NM_015160.3(PMPCA):c.747C>T (p.Asp249=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2550687	NM_015160.3(PMPCA):c.749G>A (p.Arg250His)	LOC126860792, PMPCA (R250H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1380406	NM_015160.3(PMPCA):c.751A>G (p.Met251Val)	LOC126860792, PMPCA (M151V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737227	NM_015160.3(PMPCA):c.762C>T (p.Ala254=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951921	NM_015160.3(PMPCA):c.763G>A (p.Gly255Ser)	LOC126860792, PMPCA (G124S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659735	NM_015160.3(PMPCA):c.765C>A (p.Gly255=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 221566	NM_015160.3(PMPCA):c.766G>A (p.Val256Met)	LOC126860792, PMPCA (V256M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715631	NM_015160.3(PMPCA):c.780C>T (p.His260=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027073	NM_015160.3(PMPCA):c.783G>T (p.Glu261Asp)	LOC126860792, PMPCA (E130D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065168	NM_015160.3(PMPCA):c.802C>T (p.Arg268Trp)	LOC126860792, PMPCA (R137W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 1027948	NM_015160.3(PMPCA):c.803G>A (p.Arg268Gln)	LOC126860792, PMPCA (R268Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2	GUncertain significance
Select item 3215849	NM_015160.3(PMPCA):c.811C>T (p.Leu271Phe)	LOC126860792, PMPCA (L140F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207314	NM_015160.3(PMPCA):c.826C>T (p.Pro276Ser)	LOC126860792, PMPCA (P276S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2995312	NM_015160.3(PMPCA):c.827C>T (p.Pro276Leu)	LOC126860792, PMPCA (P276L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794626	NM_015160.3(PMPCA):c.839G>A (p.Ser280Asn)	LOC126860792, PMPCA (S149N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126060	NM_015160.3(PMPCA):c.840C>T (p.Ser280=)	LOC126860792, PMPCA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 65