ClinVar for Gene (Select 90416) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2645174	NM_001080792.4(CCDC32):c.-13+210T>C	CCDC32	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2580223	NM_001080792.4(CCDC32):c.471T>A (p.Tyr157Ter)	CCDC32 (Y157* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiofacioneurodevelopmental syndrome	GUncertain significance
Select item 2431643	NC_000015.10:g.(40529939_40562522)del	CCDC32	Deletion	Cardiofacioneurodevelopmental syndrome	GPathogenic
Select item 1690313	NC_000015.10:g.40529942_40562524del	CCDC32, LOC130056854 +3 more	Deletion	Cardiofacioneurodevelopmental syndrome	GPathogenic
Select item 1675564	NM_001080792.4(CCDC32):c.529G>C (p.Gly177Arg)	CCDC32 (G177R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988601	NM_001080792.4(CCDC32):c.162_163dup (p.Glu55fs)	CCDC32 (E55fs)	Duplication (frameshift variant)	Cardiofacioneurodevelopmental syndrome	GPathogenic
Select item 988600	NM_001080792.4(CCDC32):c.27dup (p.Thr10fs)	CCDC32 (T10fs)	Duplication (frameshift variant)	Cardiofacioneurodevelopmental syndrome	GPathogenic
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 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394912	GRCh37/hg19 15q15.1(chr15:40824095-40851773)x1	CCDC32	Copy number loss	See cases	GLikely benign