8974[geneid] - ClinVar

Search results

Items: 95

	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 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 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 545310	NC_000005.10:g.(?_131428263)_(132208822_?)del	ACSL6, ACSL6-AS1 +23 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 151660	GRCh38/hg38 5q31.1(chr5:132180822-132235177)x3	LOC121079961, LOC129994561 +4 more	Copy number gain	See cases	GLikely benign
Select item 2536763	NM_001017974.2(P4HA2):c.1580G>A (p.Cys527Tyr)	P4HA2 (C468Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377823	NM_001017974.2(P4HA2):c.1538A>G (p.Asn513Ser)	P4HA2 (N454S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617186	NM_001017974.2(P4HA2):c.1487G>A (p.Arg496Gln)	P4HA2 (R498Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410465	NM_001017974.2(P4HA2):c.1471G>A (p.Gly491Arg)	P4HA2 (G491R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3364271	NM_001017974.2(P4HA2):c.1440A>G (p.Thr480=)	P4HA2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2655692	NM_001017974.2(P4HA2):c.1434+8C>A	P4HA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 711932	NM_001365677.2(P4HA2):c.1371+1G>A	P4HA2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 372167	NM_001365677.2(P4HA2):c.1352_1353del (p.Val451fs)	P4HA2 (V451fs)	Microsatellite (frameshift variant +1 more)	Myopia 25, autosomal dominant	GPathogenic
Select item 2510061	NM_001365677.2(P4HA2):c.1349G>A (p.Arg450His)	P4HA2 (R450H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207757	NM_001365677.2(P4HA2):c.1342G>A (p.Gly448Arg)	P4HA2 (G448R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3378135	NM_001365677.2(P4HA2):c.1315C>T (p.Arg439Ter)	P4HA2 (R439*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2298001	NM_001365677.2(P4HA2):c.1314G>C (p.Glu438Asp)	P4HA2 (E438D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708428	NM_001365677.2(P4HA2):c.1307A>G (p.Asn436Ser)	P4HA2 (N436S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3058662	NM_001017974.2(P4HA2):c.1347A>G (p.Leu449=)	P4HA2	Single nucleotide variant (synonymous variant +1 more)	P4HA2-related disorder	GLikely benign
Select item 2662414	NM_001017974.2(P4HA2):c.1263T>A (p.Tyr421Ter)	P4HA2 (Y362* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3041035	NM_001017974.2(P4HA2):c.1252-5C>T	P4HA2	Single nucleotide variant (intron variant)	P4HA2-related disorder	GLikely benign
Select item 731435	NM_001017974.2(P4HA2):c.1230A>G (p.Val410=)	P4HA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2555612	NM_001017974.2(P4HA2):c.1201C>T (p.Arg401Trp)	P4HA2 (R342W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303831	NM_001017974.2(P4HA2):c.1199G>A (p.Arg400His)	P4HA2 (R341H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291192	NM_001017974.2(P4HA2):c.1180G>A (p.Val394Ile)	P4HA2 (V335I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207756	NM_001017974.2(P4HA2):c.1169A>G (p.Asp390Gly)	P4HA2 (D390G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377982	NM_001017974.2(P4HA2):c.1129G>T (p.Ala377Ser)	P4HA2 (A377S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734124	NM_001017974.2(P4HA2):c.1128C>T (p.Val376=)	P4HA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3207755	NM_001017974.2(P4HA2):c.1126G>A (p.Val376Ile)	P4HA2 (V376I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606177	NM_001017974.2(P4HA2):c.1103A>G (p.Asp368Gly)	P4HA2 (D309G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396448	NM_001017974.2(P4HA2):c.1096G>A (p.Val366Ile)	P4HA2 (V307I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745803	NM_001017974.2(P4HA2):c.1068C>T (p.Ile356=)	P4HA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3037320	NM_001017974.2(P4HA2):c.1026C>T (p.Tyr342=)	P4HA2	Single nucleotide variant (synonymous variant +1 more)	P4HA2-related disorder	GLikely benign
Select item 593977	NM_001017974.2(P4HA2):c.940C>T (p.His314Tyr)	P4HA2 (H314Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2486813	NM_001017974.2(P4HA2):c.917A>G (p.Gln306Arg)	P4HA2 (Q306R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227266	NM_001017974.2(P4HA2):c.910C>T (p.Arg304Cys)	P4HA2 (R304C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479486	NM_001017974.2(P4HA2):c.886G>C (p.Gly296Arg)	P4HA2 (G296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 372165	NM_001017974.2(P4HA2):c.871G>A (p.Glu291Lys)	P4HA2 (E291K)	Single nucleotide variant (missense variant)	Myopia 25, autosomal dominant	GPathogenic
Select item 2434538	NM_001017974.2(P4HA2):c.782C>A (p.Thr261Lys)	P4HA2 (T261K)	Single nucleotide variant (missense variant)	Myopia 25, autosomal dominant	GUncertain significance
Select item 2471306	NM_001017974.2(P4HA2):c.776A>G (p.Glu259Gly)	P4HA2 (E259G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468214	NM_001017974.2(P4HA2):c.742C>T (p.Arg248Trp)	P4HA2 (R248W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207760	NM_001017974.2(P4HA2):c.736A>T (p.Asn246Tyr)	P4HA2 (N246Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035071	NM_001017974.2(P4HA2):c.731G>C (p.Gly244Ala)	P4HA2 (G244A)	Single nucleotide variant (missense variant)	P4HA2-related disorder	GLikely benign
Select item 2402307	NM_001017974.2(P4HA2):c.728C>T (p.Ala243Val)	P4HA2 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296721	NM_001017974.2(P4HA2):c.725G>A (p.Arg242Gln)	P4HA2 (R242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389646	NM_001017974.2(P4HA2):c.695G>A (p.Arg232His)	P4HA2 (R232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255541	NM_001017974.2(P4HA2):c.692G>A (p.Arg231His)	P4HA2 (R231H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532892	NM_001017974.2(P4HA2):c.674G>A (p.Arg225His)	P4HA2 (R225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732289	NM_001017974.2(P4HA2):c.654C>G (p.Phe218Leu)	P4HA2 (F218L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3043141	NM_001017974.2(P4HA2):c.648T>G (p.Ala216=)	P4HA2	Single nucleotide variant (synonymous variant)	P4HA2-related disorder	GLikely benign
Select item 769658	NM_001017974.2(P4HA2):c.645T>C (p.Tyr215=)	P4HA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3303832	NM_001017974.2(P4HA2):c.521G>A (p.Arg174His)	P4HA2 (R174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634815	NM_001017974.2(P4HA2):c.520C>T (p.Arg174Cys)	P4HA2 (R174C)	Single nucleotide variant (missense variant)	P4HA2-related disorder	GUncertain significance
Select item 2630750	NM_001017974.2(P4HA2):c.476A>G (p.Lys159Arg)	P4HA2 (K159R)	Single nucleotide variant (missense variant)	P4HA2-related disorder	GUncertain significance
Select item 3366037	NM_001017974.2(P4HA2):c.470-2A>G	P4HA2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3234231	NM_001017974.2(P4HA2):c.459G>T (p.Gly153=)	P4HA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3366010	NM_001017974.2(P4HA2):c.443G>A (p.Gly148Asp)	P4HA2 (G148D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372166	NM_001017974.2(P4HA2):c.419A>G (p.Gln140Arg)	P4HA2 (Q140R)	Single nucleotide variant (missense variant)	Myopia 25, autosomal dominant	GPathogenic
Select item 2593111	NM_001017974.2(P4HA2):c.346C>G (p.Leu116Val)	P4HA2 (L116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487994	NM_001017974.2(P4HA2):c.345C>A (p.Asn115Lys)	P4HA2 (N115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035078	NM_001017974.2(P4HA2):c.339C>T (p.Ile113=)	P4HA2	Single nucleotide variant (synonymous variant)	P4HA2-related disorder	GLikely benign
Select item 746710	NM_001017974.2(P4HA2):c.331+9C>T	P4HA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326509	NM_001017974.2(P4HA2):c.269T>A (p.Val90Glu)	P4HA2 (V90E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655693	NM_001017974.2(P4HA2):c.267G>T (p.Leu89=)	P4HA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3303830	NM_001017974.2(P4HA2):c.256G>A (p.Ala86Thr)	P4HA2 (A86T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207758	NM_001017974.2(P4HA2):c.244C>T (p.His82Tyr)	P4HA2 (H82Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791578	NM_001017974.2(P4HA2):c.226G>T (p.Ala76Ser)	P4HA2 (A76S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2403331	NM_001017974.2(P4HA2):c.182G>C (p.Trp61Ser)	P4HA2 (W61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678705	NM_001017974.2(P4HA2):c.179+16_179+17insT	P4HA2	Insertion (intron variant)	not provided	GBenign
Select item 1712679	NM_001017974.2(P4HA2):c.164T>C (p.Leu55Pro)	P4HA2 (L55P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2285397	NM_001017974.2(P4HA2):c.121G>A (p.Val41Met)	P4HA2 (V41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791139	NM_001017974.2(P4HA2):c.82+4C>T	P4HA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2461886	NM_001017974.2(P4HA2):c.64G>A (p.Glu22Lys)	P4HA2 (E22K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721479	NM_001017974.2(P4HA2):c.63C>T (p.Ala21=)	P4HA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2516000	NM_001017974.2(P4HA2):c.25C>A (p.Leu9Met)	P4HA2 (L9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456879	NM_001017974.2(P4HA2):c.14T>C (p.Val5Ala)	P4HA2 (V5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062825	GRCh37/hg19 5q31.1(chr5:131502885-131673154)x1	P4HA2, PDLIM4 +1 more	Copy number loss	not specified	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 832924	NC_000005.9:g.(?_131436897)_(131729974_?)del	P4HA2, PDLIM4 +2 more	Deletion	Renal carnitine transport defect	GPathogenic
Select item 830550	NC_000005.9:g.(?_130497712)_(131729974_?)del	IL3, LYRM7 +10 more	Deletion	Renal carnitine transport defect	GPathogenic
Select item 688839	GRCh37/hg19 5q31.1(chr5:131504297-131673288)x1	P4HA2, PDLIM4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 685993	GRCh37/hg19 5q31.1(chr5:131107107-131528744)x3	ACSL6, CSF2 +3 more	Copy number gain	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 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +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: 95