"GeneDx"[submitter] AND "LYRM7"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 1190499	NC_000005.10:g.131170845G>T	LYRM7	Single nucleotide variant	not provided	GLikely benign
Select item 676312	NM_181705.3(LYRM7):c.-176G>A	LYRM7	Single nucleotide variant	not provided	GLikely benign
Select item 388665	NM_181705.4(LYRM7):c.-34T>G	LYRM7	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 382373	NM_181705.4(LYRM7):c.-16C>T	LYRM7	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3377852	NM_181705.4(LYRM7):c.5G>C (p.Gly2Ala)	LYRM7 (G2A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1702672	NM_181705.4(LYRM7):c.5G>A (p.Gly2Glu)	LYRM7 (G2E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707236	NM_181705.4(LYRM7):c.17A>G (p.Lys6Arg)	LYRM7 (K6R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 506355	NM_181705.4(LYRM7):c.18+10C>T	LYRM7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1252214	NM_181705.4(LYRM7):c.18+173_18+174del	LYRM7	Microsatellite (intron variant)	not provided	GBenign
Select item 1209485	NM_181705.4(LYRM7):c.19-151A>T	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 223137	NM_181705.4(LYRM7):c.37del (p.Thr13fs)	LYRM7 (T13fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 380079	NM_181705.4(LYRM7):c.42G>A (p.Leu14=)	LYRM7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 390001	NM_181705.4(LYRM7):c.51C>T (p.Thr17=)	LYRM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 676313	NM_181705.4(LYRM7):c.91+146T>G	LYRM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259123	NM_181705.4(LYRM7):c.91+224dup	LYRM7	Duplication (intron variant)	not provided	GBenign
Select item 1203391	NM_181705.4(LYRM7):c.92-276C>G	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230914	NM_181705.4(LYRM7):c.92-180C>A	LYRM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273649	NM_181705.4(LYRM7):c.92-152A>G	LYRM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180005	NM_181705.4(LYRM7):c.92-70T>C	LYRM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193239	NM_181705.4(LYRM7):c.100A>C (p.Ile34Leu)	LYRM7 (I34L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 716344	NM_181705.4(LYRM7):c.114A>C (p.Glu38Asp)	LYRM7 (E38D)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1904336	NM_181705.4(LYRM7):c.142TCT[1] (p.Ser49del)	LYRM7 (S49del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1240568	NM_181705.4(LYRM7):c.162+189G>A	LYRM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674140	NM_181705.4(LYRM7):c.163-231A>T	LYRM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189103	NM_181705.4(LYRM7):c.163-150A>G	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182509	NM_181705.4(LYRM7):c.163-138G>A	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294406	NM_181705.4(LYRM7):c.163-136A>G	LYRM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382379	NM_181705.4(LYRM7):c.163-16T>C	LYRM7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1245881	NM_181705.4(LYRM7):c.244+112A>G	LYRM7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214175	NM_181705.4(LYRM7):c.244+292T>C	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215760	NM_181705.4(LYRM7):c.245-126A>G	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167162	NM_181705.4(LYRM7):c.245-8dup	LYRM7	Duplication (intron variant)	not provided	GBenign
Select item 1170407	NM_181705.4(LYRM7):c.245-8del	LYRM7	Deletion (intron variant)	not provided	GBenign
Select item 1027904	NM_181705.4(LYRM7):c.264C>A (p.Asp88Glu)	LYRM7 (D88E +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex III deficiency nuclear type 8 +1 more	GUncertain significance
Select item 1806634	NM_181705.4(LYRM7):c.278A>G (p.Asn93Ser)	LYRM7 (N93S)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1214030	NM_181705.4(LYRM7):c.227_243del	LYRM7	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign

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Items: 38