ClinVar for Gene (Select 6233) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2650944	NM_002954.6(RPS27A):c.352C>A (p.Arg118Ser)	RPS27A (R118S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554590	NM_002954.6(RPS27A):c.109C>A (p.Pro37Thr)	RPS27A (P37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520643	NM_002954.6(RPS27A):c.83C>T (p.Ala28Val)	RPS27A (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423802	NC_000002.11:g.(?_55459961)_(55616042_?)dup	CCDC88A, MTIF2 +1 more	Duplication	not provided	GUncertain significance
Select item 2423801	NC_000002.11:g.(?_54278075)_(55549848_?)dup	ACYP2, C2orf73 +8 more	Duplication	not provided	GUncertain significance
Select item 2423800	NC_000002.11:g.(?_55459961)_(55566804_?)dup	CCDC88A, MTIF2 +1 more	Duplication	not provided	GUncertain significance
Select item 2423799	NC_000002.11:g.(?_55459961)_(55646215_?)dup	CCDC88A, MTIF2 +1 more	Duplication	not provided	GUncertain significance
Select item 2288056	NM_002954.6(RPS27A):c.226G>A (p.Gly76Ser)	RPS27A (G76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278262	NM_002954.6(RPS27A):c.452A>G (p.Asn151Ser)	RPS27A (N151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275590	NM_002954.6(RPS27A):c.106A>G (p.Ile36Val)	RPS27A (I36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808076	GRCh37/hg19 2p16.1(chr2:55393367-55627759)x3	CCDC88A, CLHC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807595	GRCh37/hg19 2p16.2-16.1(chr2:54780778-55935168)x3	CCDC88A, CFAP36 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526729	GRCh37/hg19 2p16.2-16.1(chr2:54555290-55741543)	C2orf73, CCDC88A +6 more	Copy number gain	not specified	GUncertain significance
Select item 1340353	GRCh37/hg19 2p16.1(chr2:55365532-55475705)x1	CLHC1, MTIF2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1292680	NM_002954.6(RPS27A):c.104-202A>G	RPS27A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292677	NM_002954.6(RPS27A):c.190-144T>A	RPS27A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257434	NM_002954.6(RPS27A):c.322-41G>A	RPS27A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253611	NM_002954.6(RPS27A):c.103+60_103+62del	RPS27A	Deletion (intron variant)	not provided	GBenign
Select item 1246341	NM_002954.6(RPS27A):c.103+198C>T	RPS27A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244836	NM_002954.6(RPS27A):c.214A>C (p.Arg72=)	RPS27A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1242743	NM_002954.6(RPS27A):c.189+69T>C	RPS27A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238560	NM_002954.6(RPS27A):c.103+52A>T	RPS27A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231269	NM_002954.6(RPS27A):c.322-101A>T	RPS27A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228462	NM_002954.6(RPS27A):c.103+54_103+57del	RPS27A	Deletion (intron variant)	not provided	GBenign
Select item 814264	GRCh37/hg19 2p16.1(chr2:55365531-55475705)x1	CLHC1, RPS27A +1 more	Copy number loss	not provided	GUncertain significance
Select item 717264	NM_002954.6(RPS27A):c.190-3C>A	RPS27A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688252	GRCh37/hg19 2p16.1(chr2:55385346-55562517)x3	CCDC88A, CLHC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685467	GRCh37/hg19 2p16.1(chr2:55378531-55640033)x3	CCDC88A, CLHC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38