4854[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 2596991	NM_003883.4(HDAC3):c.1282A>G (p.Ile428Val)	HDAC3 (I241V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 792015	NM_003883.4(HDAC3):c.1232A>G (p.Asn411Ser)	HDAC3 (N224S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 809809	NM_003883.4(HDAC3):c.1217G>A (p.Arg406Lys)	HDAC3 (R219K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3283683	NM_003883.4(HDAC3):c.1198C>T (p.Pro400Ser)	HDAC3 (P213S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340006	NM_003883.4(HDAC3):c.1036A>C (p.Ile346Leu)	HDAC3 (I159L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782456	NM_003883.4(HDAC3):c.966G>A (p.Glu322=)	HDAC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 809810	NM_003883.4(HDAC3):c.950A>G (p.Glu317Gly)	HDAC3 (E317G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 520683	NM_003883.4(HDAC3):c.902G>A (p.Arg301Gln)	HDAC3 (R301Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 521540	NM_003883.4(HDAC3):c.893A>G (p.Tyr298Cys)	HDAC3 (Y298C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2210276	NM_003883.4(HDAC3):c.860A>G (p.Asn287Ser)	HDAC3 (N100S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104577	NM_003883.4(HDAC3):c.278A>G (p.Asp93Gly)	HDAC3 (D93G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 487780	NM_003883.4(HDAC3):c.50_55+5del	HDAC3, LOC129994870	Deletion (splice donor variant)	Ependymoma	GUncertain significance
Select item 3104578	NM_003883.4(HDAC3):c.48C>A (p.Phe16Leu)	HDAC3, LOC129994870 (F16L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104579	NM_003883.4(HDAC3):c.9G>T (p.Lys3Asn)	HDAC3, LOC129994870 (K3N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29