"GeneDx"[submitter] AND "KIRREL3"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 1226507	NM_032531.4(KIRREL3):c.*11C>T	KIRREL3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 129425	NM_032531.4(KIRREL3):c.1995C>T (p.Gly665=)	KIRREL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 489271	NM_032531.4(KIRREL3):c.1696+5G>A	KIRREL3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 379453	NM_032531.4(KIRREL3):c.1166G>A (p.Arg389His)	KIRREL3 (R389H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 422138	NM_032531.4(KIRREL3):c.997+1G>A	KIRREL3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 391196	NM_032531.4(KIRREL3):c.622A>G (p.Ile208Val)	KIRREL3 (I208V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129427	NM_032531.4(KIRREL3):c.346A>C (p.Arg116=)	KIRREL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 129420	NM_032531.4(KIRREL3):c.116T>A (p.Phe39Tyr)	KIRREL3, KIRREL3-AS1 (F39Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253565	GRCh37/hg19 11q24.2-25(chr11:126631558-134868407)x1	NTM, NFRKB +32 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic