90624[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

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	AFF4, C5orf46 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 96