Related gene-specific medical variations for Gene (Select 6232) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315296	NM_001030.6(RPS27):c.206G>C (p.Gly69Ala)	LOC126805872, RPS27 (G69A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247905	NC_000001.10:g.(?_153963273)_(153964569_?)dup	RPS27	Duplication	not provided	GUncertain significance
Select item 3156187	NM_001030.6(RPS27):c.86A>G (p.Asn29Ser)	LOC126805872, RPS27 (N29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156186	NM_001030.6(RPS27):c.34C>T (p.Pro12Ser)	LOC126805872, RPS27 (P12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058828	NM_001030.6(RPS27):c.-7C>G	LOC126805872, RPS27	Single nucleotide variant (5 prime UTR variant)	RPS27-related disorder	GLikely benign
Select item 2896812	NM_001030.6(RPS27):c.63G>A (p.Lys21=)	LOC126805872, RPS27	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876089	NM_001030.6(RPS27):c.116-15C>T	LOC126805872, RPS27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875088	NM_001030.6(RPS27):c.186C>T (p.Val62=)	LOC126805872, RPS27	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2870884	NM_001030.6(RPS27):c.7-15T>C	LOC126805872, RPS27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2867415	NM_001030.6(RPS27):c.214A>G (p.Arg72Gly)	LOC126805872, RPS27 (R40G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797065	NM_001030.6(RPS27):c.116-18T>C	LOC126805872, RPS27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2776912	NM_001030.6(RPS27):c.69C>T (p.Arg23=)	LOC126805872, RPS27	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2756626	NM_001030.6(RPS27):c.145C>T (p.His49Tyr)	LOC126805872, RPS27 (H49Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635631	NM_001030.6(RPS27):c.85A>G (p.Asn29Asp)	LOC126805872, RPS27 (N29D)	Single nucleotide variant (missense variant +1 more)	RPS27-related disorder	GUncertain significance
Select item 2634491	NM_001030.6(RPS27):c.39A>C (p.Glu13Asp)	LOC126805872, RPS27 (E13D)	Single nucleotide variant (missense variant +1 more)	RPS27-related disorder	GUncertain significance
Select item 2179120	NM_001030.6(RPS27):c.7-9C>T	LOC126805872, RPS27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2173030	NM_001030.6(RPS27):c.135G>C (p.Thr45=)	LOC126805872, RPS27	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2118242	NM_001030.6(RPS27):c.90C>G (p.Ser30=)	LOC126805872, RPS27	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2057360	NM_001030.6(RPS27):c.29C>T (p.Pro10Leu)	LOC126805872, RPS27 (P10L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1974756	NM_001030.6(RPS27):c.116-16T>C	LOC126805872, RPS27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1973866	NM_001030.6(RPS27):c.6+15C>T	LOC126805872, RPS27	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1327974	NM_001030.6(RPS27):c.116-45_116-44dup	LOC126805872, RPS27	Duplication (intron variant)	Diamond-Blackfan anemia 17	GBenign
Select item 1286485	NM_001030.6(RPS27):c.115+109C>T	LOC126805872, RPS27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745884	NM_001030.6(RPS27):c.66A>G (p.Lys22=)	LOC126805872, RPS27	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 739311	NM_001030.6(RPS27):c.141T>C (p.Phe47=)	LOC126805872, RPS27	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727666	NM_001030.6(RPS27):c.7-8C>T	LOC126805872, RPS27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 417765	NM_001030.6(RPS27):c.90del (p.Tyr31fs)	LOC126805872, RPS27 (Y31fs)	Deletion (frameshift variant +1 more)	Diamond-Blackfan anemia 17	GPathogenic

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Links from Gene

Items: 27