RPL14[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 2280634	NM_001034996.3(RPL14):c.38C>G (p.Ala13Gly)	RPL14 (A13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315178	NM_001034996.3(RPL14):c.41A>G (p.Tyr14Cys)	RPL14 (Y14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156036	NM_001034996.3(RPL14):c.246C>G (p.Ile82Met)	RPL14 (I82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156037	NM_001034996.3(RPL14):c.407T>G (p.Leu136Arg)	RPL14 (L136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770140	NM_001034996.3(RPL14):c.448GCT[16] (p.Ala154_Ala159dup)	RPL14	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 770139	NM_001034996.3(RPL14):c.448GCT[15] (p.Ala155_Ala159dup)	RPL14	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2324690	NM_001034996.3(RPL14):c.484C>A (p.Pro162Thr)	RPL14 (P162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492648	NM_001034996.3(RPL14):c.545A>C (p.Lys182Thr)	RPL14 (K182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273681	NM_001034996.3(RPL14):c.557A>G (p.Gln186Arg)	RPL14 (Q186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156038	NM_001034996.3(RPL14):c.569C>T (p.Pro190Leu)	RPL14 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251742	NM_001034996.3(RPL14):c.628G>A (p.Ala210Thr)	RPL14 (A210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156039	NM_001034996.3(RPL14):c.629C>A (p.Ala210Glu)	RPL14 (A210E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic