LYRM1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151156	GRCh38/hg38 16p12.3-12.2(chr16:20408020-21244474)x1	ACSM1, ACSM2A +35 more	Copy number loss	See cases	GUncertain significance
Select item 157359	Single allele	DNAH3, LOC126862312 +1 more	Deletion	Large for gestational age	Gnot provided
Select item 2531853	NM_001128302.3(LYRM1):c.38A>G (p.Tyr13Cys)	LYRM1 (Y13C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225859	NM_001128302.3(LYRM1):c.40C>T (p.Arg14Cys)	LYRM1 (R14C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121713	NM_001128302.3(LYRM1):c.74C>T (p.Ala25Val)	LYRM1 (A25V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787439	NM_001128302.3(LYRM1):c.121C>T (p.Leu41=)	LYRM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3121711	NM_001128302.3(LYRM1):c.164C>A (p.Thr55Lys)	LYRM1 (T60K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275512	NM_001128302.3(LYRM1):c.205G>A (p.Ala69Thr)	LYRM1 (A74T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471268	NM_001128302.3(LYRM1):c.214G>C (p.Glu72Gln)	LYRM1 (E72Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457667	NM_001128302.3(LYRM1):c.262C>T (p.Pro88Ser)	LYRM1 (P93S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121712	NM_001128302.3(LYRM1):c.278C>T (p.Thr93Ile)	LYRM1 (T98I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215537	NM_001128302.3(LYRM1):c.302G>A (p.Arg101Gln)	LYRM1 (R101Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526505	GRCh37/hg19 16p12.3-12.2(chr16:20258837-21405328)	ERI2, GP2 +15 more	Copy number gain	not specified	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 687494	GRCh37/hg19 16p12.3-12.2(chr16:20860025-21334650)x3	ANKS4B, CRYM +5 more	Copy number gain	not provided	GUncertain significance
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 30