CHAC1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2351493	NM_024111.6(CHAC1):c.-101C>G	CHAC1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2472588	NM_024111.6(CHAC1):c.-87C>T	CHAC1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3143980	NM_024111.6(CHAC1):c.-81G>A	CHAC1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3143982	NM_024111.6(CHAC1):c.-32G>A	CHAC1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2328882	NM_024111.6(CHAC1):c.25A>G (p.Asn9Asp)	CHAC1 (N9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298215	NM_024111.6(CHAC1):c.83G>A (p.Gly28Asp)	CHAC1 (G28D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266767	NM_024111.6(CHAC1):c.119C>A (p.Ser40Tyr)	CHAC1 (S40Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331060	NM_024111.6(CHAC1):c.153C>G (p.Asp51Glu)	CHAC1 (D51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143978	NM_024111.6(CHAC1):c.157C>T (p.Arg53Cys)	CHAC1 (R53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916423	NM_024111.6(CHAC1):c.171G>A (p.Val57=)	CHAC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2226410	NM_024111.6(CHAC1):c.178T>C (p.Tyr60His)	CHAC1 (Y60H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508326	NM_024111.6(CHAC1):c.223G>A (p.Asp75Asn)	CHAC1 (D75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143979	NM_024111.6(CHAC1):c.226A>G (p.Lys76Glu)	CHAC1 (K76E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161528	NM_024111.6(CHAC1):c.279G>A (p.Trp93Ter)	CHAC1 (W93*)	Single nucleotide variant (nonsense)	Malignant tumor of prostate	GUncertain significance
Select item 2211442	NM_024111.6(CHAC1):c.281G>T (p.Gly94Val)	CHAC1 (G94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283168	NM_024111.6(CHAC1):c.309G>C (p.Gln103His)	CHAC1 (Q103H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256953	NM_024111.6(CHAC1):c.384C>G (p.Phe128Leu)	CHAC1 (F128L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530242	NM_024111.6(CHAC1):c.461G>T (p.Gly154Val)	CHAC1 (G109V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342806	NM_024111.6(CHAC1):c.467C>T (p.Ala156Val)	CHAC1 (A111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143981	NM_024111.6(CHAC1):c.586G>A (p.Glu196Lys)	CHAC1 (E151K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520595	NM_024111.6(CHAC1):c.610G>A (p.Ala204Thr)	CHAC1 (A159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220590	NM_024111.6(CHAC1):c.646G>A (p.Glu216Lys)	CHAC1 (E171K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398799	NM_024111.6(CHAC1):c.659C>T (p.Ala220Val)	CHAC1 (A175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2685509	GRCh37/hg19 15q15.1(chr15:41171132-41262130)x1	CHAC1, DLL4 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 1526445	GRCh37/hg19 15q15.1(chr15:41194121-41452728)	CHAC1, DLL4 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	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 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic

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Items: 33