RPLP0[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +264 more	Copy number gain	See cases	GUncertain significance
Select item 2280085	NM_001002.4(RPLP0):c.920C>T (p.Ser307Leu)	RPLP0 (S307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156121	NM_001002.4(RPLP0):c.872C>G (p.Ala291Gly)	RPLP0 (A291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569509	NM_001002.4(RPLP0):c.764C>T (p.Thr255Met)	RPLP0 (T255M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605393	NM_001002.4(RPLP0):c.728A>G (p.Asn243Ser)	RPLP0 (N243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156120	NM_001002.4(RPLP0):c.697A>G (p.Thr233Ala)	RPLP0 (T233A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491640	NM_001002.4(RPLP0):c.659G>A (p.Arg220His)	RPLP0 (R220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398914	NM_001002.4(RPLP0):c.641G>A (p.Arg214His)	RPLP0 (R214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323221	NM_001002.4(RPLP0):c.613G>C (p.Asp205His)	RPLP0 (D205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204051	NM_001002.4(RPLP0):c.596A>G (p.Tyr199Cys)	RPLP0 (Y199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156119	NM_001002.4(RPLP0):c.544C>T (p.Pro182Ser)	RPLP0 (P182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533670	NM_001002.4(RPLP0):c.491G>C (p.Gly164Ala)	RPLP0 (G164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319542	NM_001002.4(RPLP0):c.303G>A (p.Met101Ile)	RPLP0 (M101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770414	NM_001002.4(RPLP0):c.276G>A (p.Lys92=)	RPLP0	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2337526	NM_001002.4(RPLP0):c.170A>G (p.Lys57Arg)	RPLP0 (K57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156118	NM_001002.4(RPLP0):c.115C>G (p.Gln39Glu)	RPLP0 (Q39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590106	NM_001002.4(RPLP0):c.35A>G (p.Asn12Ser)	RPLP0 (N12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244258	NC_000012.11:g.(?_120270555)_(124242579_?)dup	DDX55, DENR +73 more	Duplication	Deficiency of butyryl-CoA dehydrogenase	GUncertain significance
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 563963	GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3	PXN, ACADS +19 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 28