"GeneDx"[submitter] AND "IQCG"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 517048	NM_000996.4(RPL35A):c.-33+16G>C	IQCG, RPL35A	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1297422	NM_000996.4(RPL35A):c.-32-141G>A	IQCG, RPL35A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 13002	NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del)	IQCG, RPL35A (L28del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1723464	NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)	IQCG, RPL35A (Y42C)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 5 +2 more	GConflicting classifications of pathogenicity
Select item 1704655	NM_000996.4(RPL35A):c.196A>C (p.Lys66Gln)	IQCG, RPL35A (K66Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 344529	NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln)	IQCG, RPL35A (R89Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1202286	NM_000996.4(RPL35A):c.309+199del	IQCG, RPL35A	Deletion (intron variant)	not provided	GLikely benign
Select item 1182800	NM_000996.4(RPL35A):c.309+199T>G	IQCG, RPL35A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251055	NM_000996.4(RPL35A):c.309+209C>A	IQCG, RPL35A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263096	NM_000996.4(RPL35A):c.310-66C>T	IQCG, RPL35A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194953	NM_000996.4(RPL35A):c.310-48C>T	IQCG, RPL35A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204119	NM_000996.4(RPL35A):c.*135G>C	IQCG, RPL35A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1243244	NM_000996.4(RPL35A):c.*260C>T	IQCG, RPL35A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253357	GRCh37/hg19 3q29(chr3:196281672-197681798)x3	PAK2, PIGZ +15 more	Copy number gain	See cases	GLikely pathogenic