ClinVar for Gene (Select 6232) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
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 2870925	NM_001030.6(RPS27):c.227-13C>T	RPS27	Single nucleotide variant (intron 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 2826335	NM_001030.6(RPS27):c.227-6C>T	RPS27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806776	NM_001030.6(RPS27):c.226+13C>T	RPS27	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 (synonymous 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 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2426580	NC_000001.10:g.(?_153782653)_(153964569_?)del	CREB3L4, CRTC2 +6 more	Deletion	not provided	GPathogenic
Select item 2425513	NC_000001.10:g.(?_153963273)_(154580482_?)del	ADAR, AQP10 +13 more	Deletion	Kostmann syndrome	GPathogenic
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 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ADAR, ANP32E +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	GUncertain significance
Select item 1336053	NM_001030.6(RPS27):c.228A>T (p.Gly76=)	RPS27	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 1237561	NM_001030.6(RPS27):c.227-144_227-143insAA	RPS27	Insertion (intron variant)	not provided	GBenign
Select item 1222697	NC_000001.11:g.153992376dup	RPS27	Duplication	not provided	GBenign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 979296	GRCh37/hg19 1q21.3(chr1:153866956-154000766)x1	JTB, CREB3L4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 814130	GRCh37/hg19 1q21.3(chr1:153659094-154307972)x3	JTB, RPS27 +17 more	Copy number gain	not provided	GUncertain significance
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)	RPS27-related disorder +1 more	GBenign
Select item 625770	GRCh37/hg19 1q21.3(chr1:153701504-154218584)	JTB, NUP210L +13 more	Copy number loss	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 560045	Single allele	CREB3L4, CRTC2 +26 more	Deletion	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 417765	NM_001030.6(RPS27):c.90del (p.Tyr31fs)	LOC126805872, RPS27 (Y31fs)	Deletion (frameshift variant +1 more)	Diamond-Blackfan anemia 17	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 60011	GRCh38/hg38 1q21.3(chr1:153759563-154219803)x1	C1orf43, CFAP141 +35 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 48