Related gene-specific medical variations for Gene (Select 9349) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243125	NC_000017.10:g.(?_37006385)_(37009963_?)dup	RPL23	Duplication	not provided	GUncertain significance
Select item 2904041	NM_000978.4(RPL23):c.97+6G>A	LOC126862551, RPL23	Single nucleotide variant (intron 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 2877389	NM_000978.4(RPL23):c.14-14C>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 2869977	NM_000978.4(RPL23):c.14-5C>T	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 2795196	NM_000978.4(RPL23):c.24G>A (p.Gly8=)	LOC126862551, RPL23	Single nucleotide variant (synonymous 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 2772723	NM_000978.4(RPL23):c.54G>C (p.Leu18Phe)	LOC126862551, RPL23 (L18F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2716314	NM_000978.4(RPL23):c.138G>A (p.Lys46=)	LOC126862551, RPL23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2175970	NM_000978.4(RPL23):c.80A>G (p.Asn27Ser)	LOC126862551, RPL23 (N27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076204	NM_000978.4(RPL23):c.97+8C>G	LOC126862551, RPL23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2014851	NM_000978.4(RPL23):c.98-9C>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 1946095	NM_000978.4(RPL23):c.115A>G (p.Ile39Val)	LOC126862551, RPL23 (I39V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance