RPL23[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 1978113	NM_000978.4(RPL23):c.394A>G (p.Ile132Val)	RPL23 (I132V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869009	NM_000978.4(RPL23):c.372G>A (p.Glu124=)	RPL23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999503	NM_000978.4(RPL23):c.366A>C (p.Ala122=)	RPL23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063593	NM_000978.4(RPL23):c.366A>G (p.Ala122=)	RPL23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971298	NM_000978.4(RPL23):c.341-30ATTTT[5]	RPL23	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2031940	NM_000978.4(RPL23):c.341-30ATTTT[2]	RPL23	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1338054	NM_000978.4(RPL23):c.341-30ATTTT[3]	RPL23	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 2783036	NM_000978.4(RPL23):c.340+17G>A	RPL23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2164105	NM_000978.4(RPL23):c.335T>C (p.Met112Thr)	RPL23 (M112T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3156054	NM_000978.4(RPL23):c.314T>C (p.Ile105Thr)	RPL23 (I105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2845454	NM_000978.4(RPL23):c.289T>A (p.Tyr97Asn)	RPL23 (Y97N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338129	NM_000978.4(RPL23):c.280G>A (p.Val94Met)	RPL23 (V94M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2899492	NM_000978.4(RPL23):c.279C>T (p.Gly93=)	RPL23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814569	NM_000978.4(RPL23):c.279C>A (p.Gly93=)	RPL23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322450	NM_000978.4(RPL23):c.266G>A (p.Arg89His)	RPL23 (R89H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2877955	NM_000978.4(RPL23):c.265C>G (p.Arg89Gly)	RPL23 (R89G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972183	NM_000978.4(RPL23):c.227-12T>C	RPL23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2710718	NM_000978.4(RPL23):c.222A>G (p.Lys74=)	LOC126862551, RPL23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716314	NM_000978.4(RPL23):c.138G>A (p.Lys46=)	LOC126862551, RPL23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946095	NM_000978.4(RPL23):c.115A>G (p.Ile39Val)	LOC126862551, RPL23 (I39V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014851	NM_000978.4(RPL23):c.98-9C>T	LOC126862551, RPL23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875628	NM_000978.4(RPL23):c.98-12A>G	LOC126862551, RPL23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868840	NM_000978.4(RPL23):c.98-18_98-16del	LOC126862551, RPL23	Deletion (intron variant)	not provided	GLikely benign
Select item 2782417	NM_000978.4(RPL23):c.97+11T>G	LOC126862551, RPL23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2076204	NM_000978.4(RPL23):c.97+8C>G	LOC126862551, RPL23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2904041	NM_000978.4(RPL23):c.97+6G>A	LOC126862551, RPL23	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2175970	NM_000978.4(RPL23):c.80A>G (p.Asn27Ser)	LOC126862551, RPL23 (N27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772723	NM_000978.4(RPL23):c.54G>C (p.Leu18Phe)	LOC126862551, RPL23 (L18F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892817	NM_000978.4(RPL23):c.51C>G (p.Ser17=)	LOC126862551, RPL23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795196	NM_000978.4(RPL23):c.24G>A (p.Gly8=)	LOC126862551, RPL23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869977	NM_000978.4(RPL23):c.14-5C>T	LOC126862551, RPL23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1997014	NM_000978.4(RPL23):c.14-10A>G	LOC126862551, RPL23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877389	NM_000978.4(RPL23):c.14-14C>T	LOC126862551, RPL23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720839	NM_000978.4(RPL23):c.12A>G (p.Arg4=)	LOC126862551, RPL23	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3243125	NC_000017.10:g.(?_37006385)_(37009963_?)dup	RPL23	Duplication	not provided	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2684848	GRCh37/hg19 17q12(chr17:36836115-37099066)x3	CISD3, CWC25 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2425689	NC_000017.10:g.(?_36891476)_(37009963_?)dup	CISD3, CWC25 +5 more	Duplication	not provided	GLikely benign
Select item 815933	GRCh37/hg19 17q12(chr17:36710984-37295662)x3	C17orf98, CISD3 +11 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 45