LYRM7[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
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 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 153595	GRCh38/hg38 5q23.3(chr5:130803575-131187009)x1	HINT1, LOC123497966 +5 more	Copy number loss	See cases	GLikely benign
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	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 1323256	NM_181705.4(LYRM7):c.2T>C (p.Met1Thr)	LYRM7 (M1T)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex III deficiency nuclear type 8	GPathogenic/Likely pathogenic
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 2312501	NM_181705.4(LYRM7):c.8G>T (p.Arg3Leu)	LYRM7 (R3L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335118	NM_181705.4(LYRM7):c.13G>C (p.Val5Leu)	LYRM7 (V5L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1350806	NM_181705.4(LYRM7):c.18G>C (p.Lys6Asn)	LYRM7 (K6N)	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 1556272	NM_181705.4(LYRM7):c.18+14G>A	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1922139	NM_181705.4(LYRM7):c.19-20A>T	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907936	NM_181705.4(LYRM7):c.23del (p.Leu8fs)	LYRM7 (L8fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 1967682	NM_181705.4(LYRM7):c.49A>G (p.Thr17Ala)	LYRM7 (T17A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 135664	NM_181705.4(LYRM7):c.73G>A (p.Asp25Asn)	LYRM7 (D25N)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex III deficiency nuclear type 8	GPathogenic
Select item 1936944	NM_181705.4(LYRM7):c.76G>A (p.Ala26Thr)	LYRM7 (A26T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1919024	NM_181705.4(LYRM7):c.92-16A>G	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 916481	NM_181705.4(LYRM7):c.100A>G (p.Ile34Val)	LYRM7 (I34V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016657	NM_181705.4(LYRM7):c.114A>T (p.Glu38Asp)	LYRM7 (E38D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1588252	NM_181705.4(LYRM7):c.117A>G (p.Glu39=)	LYRM7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1687220	NM_181705.4(LYRM7):c.120C>A (p.Phe40Leu)	LYRM7 (F40L)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 8	GUncertain significance
Select item 2689385	NM_181705.4(LYRM7):c.128A>G (p.Asn43Ser)	LYRM7 (N43S)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 8	GUncertain significance
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 1176812	NM_181705.4(LYRM7):c.150G>C (p.Lys50Asn)	LYRM7 (K50N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510503	NM_181705.4(LYRM7):c.162+2T>A	LYRM7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1638967	NM_181705.4(LYRM7):c.162+17A>G	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766177	NM_181705.4(LYRM7):c.162+19T>G	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1550798	NM_181705.4(LYRM7):c.163-20T>G	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382379	NM_181705.4(LYRM7):c.163-16T>C	LYRM7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1911695	NM_181705.4(LYRM7):c.181G>A (p.Asp61Asn)	LYRM7 (D61N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1970603	NM_181705.4(LYRM7):c.185T>C (p.Val62Ala)	LYRM7 (V62A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 223135	NM_181705.4(LYRM7):c.190TTA[3] (p.Leu66dup)	LYRM7	Microsatellite (inframe_insertion +1 more)	Mitochondrial complex III deficiency nuclear type 8	GPathogenic
Select item 752188	NM_181705.4(LYRM7):c.201A>G (p.Arg67=)	LYRM7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3292399	NM_181705.4(LYRM7):c.208G>A (p.Val70Ile)	LYRM7 (V70I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2135224	NM_181705.4(LYRM7):c.208G>C (p.Val70Leu)	LYRM7 (V70L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 638440	NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu)	LYRM7 (Q72E)	Single nucleotide variant (intron variant +1 more)	Mitochondrial complex III deficiency nuclear type 8	GLikely pathogenic
Select item 223136	NM_181705.4(LYRM7):c.214C>T (p.Gln72Ter)	LYRM7 (Q72*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex III deficiency nuclear type 8	GPathogenic
Select item 2704341	NM_181705.4(LYRM7):c.230A>C (p.Asp77Ala)	LYRM7 (D77A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 223134	NM_181705.4(LYRM7):c.244+5dup	LYRM7	Duplication (intron variant)	Mitochondrial complex III deficiency nuclear type 8	GPathogenic
Select item 870569	NM_181705.4(LYRM7):c.244+6T>G	LYRM7	Single nucleotide variant (intron variant)	Mitochondrial complex III deficiency nuclear type 8	GUncertain significance
Select item 715931	NM_181705.4(LYRM7):c.244+10del	LYRM7	Deletion (intron variant)	not provided	GBenign
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 1646798	NM_181705.4(LYRM7):c.245-20C>T	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 1908202	NM_181705.4(LYRM7):c.245-18T>C	LYRM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2575314	NM_181705.4(LYRM7):c.245-1G>A	LYRM7	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex III deficiency nuclear type 1	GPathogenic
Select item 1423568	NM_181705.4(LYRM7):c.248T>C (p.Leu83Pro)	LYRM7 (L83P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1712258	NM_181705.4(LYRM7):c.309del (p.Lys103fs)	LYRM7 (K103fs)	Deletion (3 prime UTR variant +2 more)	Mitochondrial complex III deficiency nuclear type 8	GLikely pathogenic
Select item 1214030	NM_181705.4(LYRM7):c.227_243del	LYRM7	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3246575	NC_000005.9:g.(?_130515768)_(130515880_?)del	LYRM7	Deletion	not provided	GPathogenic
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 2684429	GRCh37/hg19 5q23.3(chr5:127909723-130536409)x3	ADAMTS19, CHSY3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 1808161	GRCh37/hg19 5q23.3(chr5:130139269-130513653)x1	HINT1, LYRM7	Copy number loss	not provided	GUncertain significance
Select item 830550	NC_000005.9:g.(?_130497712)_(131729974_?)del	IL3, LYRM7 +10 more	Deletion	Renal carnitine transport defect	GPathogenic
Select item 688891	GRCh37/hg19 5q23.3(chr5:130138490-130513653)x1	HINT1, LYRM7	Copy number loss	not provided	GPathogenic
Select item 686005	GRCh37/hg19 5q23.3(chr5:130138490-130513653)x1	HINT1, LYRM7	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCNI2, FAM13B +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 96