ClinVar for Gene (Select 167410) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290844	NM_153234.5(LIX1):c.88G>A (p.Val30Ile)	LIX1, LOC126807459 (V30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3119126	NM_153234.5(LIX1):c.425T>A (p.Val142Asp)	LIX1, LIX1-AS1 (V142D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119125	NM_153234.5(LIX1):c.383C>T (p.Thr128Ile)	LIX1, LIX1-AS1 (T128I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119124	NM_153234.5(LIX1):c.274C>T (p.Arg92Trp)	LIX1, LIX1-AS1 (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119123	NM_153234.5(LIX1):c.205T>G (p.Tyr69Asp)	LIX1, LOC126807459 (Y69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2599660	NM_153234.5(LIX1):c.275G>A (p.Arg92Gln)	LIX1, LIX1-AS1 (R92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456043	NM_153234.5(LIX1):c.521G>A (p.Gly174Glu)	LIX1, LIX1-AS1 (G174E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287927	NM_153234.5(LIX1):c.352A>G (p.Met118Val)	LIX1, LIX1-AS1 (M118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252913	NM_153234.5(LIX1):c.807T>A (p.Ser269Arg)	LIX1, LIX1-AS1 (S269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236113	NM_153234.5(LIX1):c.35T>C (p.Ile12Thr)	LIX1 (I12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233540	NM_153234.5(LIX1):c.608G>A (p.Arg203His)	LIX1, LIX1-AS1 (R203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 980166	GRCh37/hg19 5q15(chr5:96319606-96585510)x3	RIOK2, LIX1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980163	GRCh37/hg19 5q15(chr5:96151759-96483691)x3	LNPEP, ERAP2 +1 more	Copy number gain	not provided	GLikely benign
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 688145	GRCh37/hg19 5q15(chr5:95335480-97832367)x3	CAST, ERAP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687706	GRCh37/hg19 5q15(chr5:96097916-96840263)x3	CAST, ERAP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	HARS1, HARS2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 443331	GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1	CAST, CHD1 +19 more	Copy number loss	See cases	GLikely pathogenic
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 395055	GRCh37/hg19 5q15(chr5:96440989-96518843)x1	LIX1, RIOK2	Copy number loss	See cases	GUncertain significance
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 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 more	Copy number gain	See cases	GUncertain significance
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 41