ILRUN[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 1338841	GRCh38/hg38 6p21.31(chr6:34587317-34856828)	BLTP3A, ILRUN +12 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 3109505	NM_024294.4(ILRUN):c.871G>A (p.Gly291Arg)	ILRUN (G225R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 979553	GRCh37/hg19 6p21.31(chr6:34471615-34659186)x1	ILRUN, PACSIN1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 686425	GRCh37/hg19 6p21.31(chr6:34630244-35087148)x3	ANKS1A, BLTP3A +4 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253678	GRCh37/hg19 6p21.31(chr6:34482666-34949939)x3	SNRPC, ANKS1A +5 more	Copy number gain	See cases	GUncertain significance