RAD23A[gene] - ClinVar

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

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 3151020	NM_005053.4(RAD23A):c.11C>A (p.Thr4Asn)	RAD23A (T4N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369954	NM_005053.4(RAD23A):c.311C>T (p.Pro104Leu)	LOC126862862, RAD23A (P104L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2411761	NM_005053.4(RAD23A):c.338A>G (p.His113Arg)	LOC126862862, RAD23A (H113R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151023	NM_005053.4(RAD23A):c.446G>A (p.Arg149Gln)	RAD23A (R149Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312281	NM_005053.4(RAD23A):c.467C>T (p.Thr156Met)	RAD23A (T156M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312280	NM_005053.4(RAD23A):c.512T>C (p.Met171Thr)	RAD23A (M171T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312279	NM_005053.4(RAD23A):c.517A>G (p.Met173Val)	RAD23A (M173V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536904	NM_005053.4(RAD23A):c.526G>A (p.Glu176Lys)	RAD23A (E176K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358376	NM_005053.4(RAD23A):c.530G>A (p.Arg177Gln)	RAD23A (R177Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476849	NM_005053.4(RAD23A):c.533A>C (p.Glu178Ala)	RAD23A (E178A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151024	NM_005053.4(RAD23A):c.655T>C (p.Ser219Pro)	RAD23A (S219P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372894	NM_005053.4(RAD23A):c.656C>T (p.Ser219Leu)	RAD23A (S219L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277280	NM_005053.4(RAD23A):c.665C>T (p.Pro222Leu)	RAD23A (P222L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516726	NM_005053.4(RAD23A):c.950C>T (p.Thr317Met)	LOC126862863, RAD23A (T316M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493791	NM_005053.4(RAD23A):c.1027G>A (p.Ala343Thr)	LOC126862863, RAD23A (A342T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1511662	NC_000019.9:g.(?_12917488)_(13205463_?)del	CALR, DAND5 +11 more	Deletion	not provided	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	BEST2, CACNA1A +29 more	Deletion	Developmental and epileptic encephalopathy, 42 +3 more	GPathogenic
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	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: 41