ClinVar for Gene (Select 388115) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3139663	NM_207380.3(CCDC9B):c.778T>A (p.Leu260Met)	CCDC9B (L260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139662	NM_207380.3(CCDC9B):c.1385G>A (p.Arg462Gln)	CCDC9B (R462Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139661	NM_207380.3(CCDC9B):c.1282G>A (p.Val428Ile)	CCDC9B (V428I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139660	NM_207380.3(CCDC9B):c.5A>T (p.His2Leu)	CCDC9B (H2L)	Single nucleotide variant (missense variant)	not specified	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 2645165	NM_207380.3(CCDC9B):c.201C>T (p.Gly67=)	CCDC9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 980032	GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4	DISP2, C15orf62 +23 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 564194	GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1	THBS1, EIF2AK4 +22 more	Copy number loss	not provided	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 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic