LYRM9[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60137	GRCh38/hg38 17q11.2(chr17:27627733-28118935)x3	LGALS9, LINC01992 +18 more	Copy number gain	See cases	GUncertain significance
Select item 2249927	NM_001076680.3(LYRM9):c.174G>T (p.Gln58His)	LYRM9 (Q58H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363435	NM_001076680.3(LYRM9):c.83C>T (p.Pro28Leu)	LYRM9 (P28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209000	NM_001076680.3(LYRM9):c.64C>T (p.Arg22Cys)	LYRM9 (R22C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558209	NM_001076680.3(LYRM9):c.19G>A (p.Ala7Thr)	LYRM9 (A7T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 1341051	GRCh37/hg19 17q11.1-11.2(chr17:25761228-26385329)x3	NOS2, NLK +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340451	GRCh37/hg19 17q11.1-11.2(chr17:25439781-26267997)x3	KSR1, LGALS9 +3 more	Copy number gain	not provided	GUncertain significance
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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 253865	GRCh37/hg19 17p11.2-q11.2(chr17:21308559-26655801)x3	MTRNR2L1, TMEM97 +9 more	Copy number gain	See cases	GUncertain significance