6228[geneid] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 762395	NM_001025.5(RPS23):c.429A>G (p.Ser143=)	RPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 417764	NM_001025.5(RPS23):c.358T>A (p.Phe120Ile)	RPS23 (F120I)	Single nucleotide variant (missense variant)	Brachycephaly, trichomegaly, and developmental delay	GPathogenic
Select item 2578439	NM_001025.5(RPS23):c.355C>T (p.Arg119Cys)	RPS23 (R119C)	Single nucleotide variant (missense variant)	Brachycephaly, trichomegaly, and developmental delay	GUncertain significance
Select item 1327972	NM_001025.5(RPS23):c.285+33C>G	RPS23	Single nucleotide variant (intron variant)	Brachycephaly, trichomegaly, and developmental delay	GBenign
Select item 771151	NM_001025.5(RPS23):c.264C>T (p.Asp88=)	RPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 417763	NM_001025.5(RPS23):c.200G>A (p.Arg67Lys)	RPS23 (R67K)	Single nucleotide variant (missense variant)	Brachycephaly, trichomegaly, and developmental delay	GPathogenic
Select item 1030028	NM_001025.5(RPS23):c.139G>A (p.Ala47Thr)	RPS23 (A47T)	Single nucleotide variant (missense variant)	Brachycephaly, trichomegaly, and developmental delay	GUncertain significance
Select item 2445679	NM_001025.5(RPS23):c.58C>G (p.Gln20Glu)	RPS23 (Q20E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684422	GRCh37/hg19 5q14.2(chr5:81437645-81652678)x3	ATG10, ATP6AP1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340134	GRCh37/hg19 5q14.1-14.2(chr5:81100844-81742123)x3	ATG10, ATP6AP1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688638	GRCh37/hg19 5q14.1-14.2(chr5:81161104-81600197)x3	ATG10, RPS23	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic