11261[geneid] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 632545	NM_007236.5(CHP1):c.52AAG[1] (p.Lys19del)	CHP1 (K19del)	Microsatellite (inframe_deletion)	Spastic ataxia 9, autosomal recessive	GPathogenic
Select item 3046627	NM_007236.5(CHP1):c.112C>T (p.Leu38=)	CHP1	Single nucleotide variant (synonymous variant)	CHP1-related disorder	GLikely benign
Select item 2645189	NM_007236.5(CHP1):c.412-4C>T	CHP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3045325	NM_007236.5(CHP1):c.474G>A (p.Arg158=)	CHP1	Single nucleotide variant (synonymous variant)	CHP1-related disorder	GBenign
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815706	GRCh37/hg19 15q15.1(chr15:41412285-41645212)x3	NUSAP1, OIP5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442816	GRCh37/hg19 15q15.1(chr15:41370581-41688429)x1	CHP1, EXD1 +4 more	Copy number loss	See cases	GLikely benign
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic