RPL23A[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign
Select item 3156056	NM_000984.6(RPL23A):c.4G>A (p.Ala2Thr)	LOC130060564, RPL23A (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517843	NM_000984.6(RPL23A):c.29C>T (p.Pro10Leu)	RPL23A (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393447	NM_000984.6(RPL23A):c.34C>G (p.Pro12Ala)	RPL23A (P12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617194	NM_000984.6(RPL23A):c.61G>C (p.Ala21Pro)	RPL23A (A21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481811	NM_000984.6(RPL23A):c.80C>T (p.Ala27Val)	RPL23A (A27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269615	NM_000984.6(RPL23A):c.91G>T (p.Gly31Cys)	RPL23A (G31C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315183	NM_000984.6(RPL23A):c.119T>C (p.Ile40Thr)	RPL23A (I40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391090	NM_000984.6(RPL23A):c.122G>T (p.Arg41Leu)	RPL23A (R41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156055	NM_000984.6(RPL23A):c.172C>G (p.Pro58Ala)	RPL23A (P58A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315184	NM_000984.6(RPL23A):c.256G>T (p.Ala86Ser)	RPL23A (A86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	ALDOC, BLTP2 +29 more	Duplication	not provided	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 21