RPL4[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 2488648	NM_000968.4(RPL4):c.1274C>T (p.Pro425Leu)	RPL4 (P425L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508966	NM_000968.4(RPL4):c.1255A>G (p.Thr419Ala)	RPL4 (T419A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156098	NM_000968.4(RPL4):c.1223C>T (p.Ala408Val)	RPL4 (A408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303288	NM_000968.4(RPL4):c.1135G>A (p.Gly379Ser)	RPL4 (G379S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333283	NM_000968.4(RPL4):c.1117G>A (p.Gly373Ser)	RPL4 (G373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464619	NM_000968.4(RPL4):c.1106C>T (p.Ala369Val)	RPL4 (A369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598380	NM_000968.4(RPL4):c.1076C>T (p.Ala359Val)	RPL4 (A359V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454654	NM_000968.4(RPL4):c.1070C>G (p.Ala357Gly)	RPL4 (A357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257610	NM_000968.4(RPL4):c.1044G>T (p.Lys348Asn)	RPL4 (K348N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496048	NM_000968.4(RPL4):c.997A>C (p.Lys333Gln)	RPL4 (K333Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373460	NM_000968.4(RPL4):c.938T>C (p.Val313Ala)	RPL4 (V313A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604626	NM_000968.4(RPL4):c.931C>T (p.Arg311Cys)	RPL4 (R311C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387779	NM_000968.4(RPL4):c.924G>T (p.Lys308Asn)	RPL4 (K308N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156101	NM_000968.4(RPL4):c.916C>T (p.Arg306Cys)	RPL4 (R306C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280005	NM_000968.4(RPL4):c.910G>A (p.Ala304Thr)	RPL4 (A304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319541	NM_000968.4(RPL4):c.756G>T (p.Trp252Cys)	LOC126862157, RPL4 (W252C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156100	NM_000968.4(RPL4):c.709A>G (p.Ile237Val)	LOC126862157, RPL4 (I237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271089	NM_000968.4(RPL4):c.637G>A (p.Glu213Lys)	LOC126862157, RPL4 (E213K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628001	NM_000968.4(RPL4):c.611G>T (p.Arg204Leu)	LOC126862157, RPL4 (R204L)	Single nucleotide variant (missense variant)	Exstrophy-epispadias complex	GUncertain significance
Select item 2216992	NM_000968.4(RPL4):c.601C>T (p.Arg201Cys)	LOC126862157, RPL4 (R201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298578	NM_000968.4(RPL4):c.554C>T (p.Ala185Val)	LOC126862157, RPL4 (A185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156099	NM_000968.4(RPL4):c.551A>G (p.Tyr184Cys)	LOC126862157, RPL4 (Y184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204811	NM_000968.4(RPL4):c.542A>C (p.Lys181Thr)	RPL4 (K181T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517295	NM_000968.4(RPL4):c.488A>G (p.Lys163Arg)	RPL4 (K163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623403	NM_000968.4(RPL4):c.428G>A (p.Arg143His)	RPL4 (R143H)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 2236914	NM_000968.4(RPL4):c.362G>A (p.Arg121Gln)	RPL4 (R121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311166	NM_000968.4(RPL4):c.255C>A (p.His85Gln)	RPL4 (H85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645473	NM_000968.4(RPL4):c.144C>T (p.Asn48=)	RPL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	CLN6, CORO2B +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 38