PRADC1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 3217993	NM_032319.3(PRADC1):c.553T>C (p.Trp185Arg)	PRADC1 (W185R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309620	NM_032319.3(PRADC1):c.548C>T (p.Pro183Leu)	PRADC1 (P183L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273250	NM_032319.3(PRADC1):c.506C>A (p.Pro169Gln)	PRADC1 (P169Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309621	NM_032319.3(PRADC1):c.484C>T (p.Pro162Ser)	PRADC1 (P162S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217992	NM_032319.3(PRADC1):c.453G>A (p.Met151Ile)	PRADC1 (M151I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651027	NM_032319.3(PRADC1):c.417C>A (p.Ile139=)	PRADC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3309617	NM_032319.3(PRADC1):c.412G>A (p.Asp138Asn)	PRADC1 (D138N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217991	NM_032319.3(PRADC1):c.329G>A (p.Arg110Gln)	PRADC1 (R110Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254534	NM_032319.3(PRADC1):c.328C>T (p.Arg110Trp)	PRADC1 (R110W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217990	NM_032319.3(PRADC1):c.274A>G (p.Arg92Gly)	PRADC1 (R92G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309619	NM_032319.3(PRADC1):c.238G>A (p.Gly80Ser)	PRADC1 (G80S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239552	NM_032319.3(PRADC1):c.202G>T (p.Ala68Ser)	PRADC1 (A68S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204955	NM_032319.3(PRADC1):c.202G>A (p.Ala68Thr)	PRADC1 (A68T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309616	NM_032319.3(PRADC1):c.142C>A (p.Pro48Thr)	PRADC1 (P48T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290748	NM_032319.3(PRADC1):c.113G>A (p.Gly38Glu)	PRADC1 (G38E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409626	NM_032319.3(PRADC1):c.10G>A (p.Gly4Ser)	PRADC1 (G4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289081	NM_032319.3(PRADC1):c.5T>C (p.Val2Ala)	PRADC1 (V2A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1056266	NC_000002.11:g.(?_73114549)_(73836749_?)dup	NOTO, ALMS1 +9 more	Duplication	Alstrom syndrome	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 30