HDAC1[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	ADGRB2, AK2 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	LOC129929990, LOC129929991 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 208751	NM_004964.3(HDAC1):c.461A>G (p.Asn154Ser)	HDAC1 (N154S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2543631	NM_004964.3(HDAC1):c.539G>A (p.Gly180Asp)	HDAC1 (G180D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784440	NM_004964.3(HDAC1):c.564C>T (p.Tyr188=)	HDAC1	Single nucleotide variant (synonymous variant)	HDAC1-related condition +1 more	GBenign/Likely benign
Select item 716272	NM_004964.3(HDAC1):c.702C>T (p.Asp234=)	HDAC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3104549	NM_004964.3(HDAC1):c.710A>G (p.Tyr237Cys)	HDAC1 (Y237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281034	NM_004964.3(HDAC1):c.868A>T (p.Ser290Cys)	HDAC1 (S290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378557	NM_004964.3(HDAC1):c.1162G>A (p.Ala388Thr)	HDAC1 (A388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104545	NM_004964.3(HDAC1):c.1189G>A (p.Asp397Asn)	HDAC1 (D397N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104547	NM_004964.3(HDAC1):c.1238G>A (p.Arg413Gln)	HDAC1 (R413Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033900	NM_004964.3(HDAC1):c.1263C>T (p.Ser421=)	HDAC1	Single nucleotide variant (synonymous variant)	HDAC1-related condition	GLikely benign
Select item 3104548	NM_004964.3(HDAC1):c.1327G>C (p.Val443Leu)	HDAC1 (V443L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385326	NM_004964.3(HDAC1):c.1418A>G (p.Lys473Arg)	HDAC1 (K473R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318998	NM_004964.3(HDAC1):c.1433A>T (p.Glu478Val)	HDAC1 (E478V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 686004	GRCh37/hg19 1p35.2-35.1(chr1:32139063-32940848)x4	ADGRB2, BSDC1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565084	GRCh37/hg19 1p35.1(chr1:32608682-32953541)x3	FAM229A, DCDC2B +13 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 25