ClinVar for Gene (Select 431707) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290636	NM_001256114.2(LHX8):c.134C>T (p.Pro45Leu)	LHX8 (P55L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118684	NM_001256114.2(LHX8):c.593G>T (p.Ser198Ile)	LHX8 (S208I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118683	NM_001256114.2(LHX8):c.440A>G (p.Tyr147Cys)	LHX8 (Y157C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118682	NM_001256114.2(LHX8):c.389G>A (p.Gly130Glu)	LHX8 (G130E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059961	NM_001256114.2(LHX8):c.964+4G>C	LHX8	Single nucleotide variant (intron variant)	LHX8-related disorder	GLikely benign
Select item 3051304	NM_001256114.2(LHX8):c.213G>A (p.Glu71=)	LHX8	Single nucleotide variant (synonymous variant)	LHX8-related disorder	GLikely benign
Select item 3044949	NM_001256114.2(LHX8):c.741A>G (p.Lys247=)	LHX8	Single nucleotide variant (synonymous variant)	LHX8-related disorder	GLikely benign
Select item 3043391	NM_001256114.2(LHX8):c.606C>T (p.Ala202=)	LHX8	Single nucleotide variant (synonymous variant)	LHX8-related disorder	GLikely benign
Select item 3041330	NM_001256114.2(LHX8):c.75+9G>A	LHX8	Single nucleotide variant (intron variant)	LHX8-related disorder	GLikely benign
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	IFI44L, LHX8 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2638883	NM_001256114.2(LHX8):c.1A>C (p.Met1Leu)	LHX8 (M11L +1 more)	Single nucleotide variant (missense variant +1 more)	LHX8-related disorder +1 more	GBenign/Likely benign
Select item 2359574	NM_001256114.2(LHX8):c.886A>G (p.Met296Val)	LHX8 (M296V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351945	NM_001256114.2(LHX8):c.19C>T (p.Arg7Trp)	LHX8 (R7W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292996	NM_001256114.2(LHX8):c.703G>A (p.Ala235Thr)	LHX8 (A235T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261431	NM_001256114.2(LHX8):c.331G>C (p.Asp111His)	LHX8 (D111H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260756	NM_001256114.2(LHX8):c.673G>C (p.Asp225His)	LHX8 (D225H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219005	NM_001256114.2(LHX8):c.262C>T (p.Arg88Trp)	LHX8 (R98W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1334980	NM_001256114.2(LHX8):c.944C>T (p.Ala315Val)	LHX8 (A315V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787749	NM_001256114.2(LHX8):c.411C>T (p.Asp137=)	LHX8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 787748	NM_001256114.2(LHX8):c.92C>T (p.Ala31Val)	LHX8 (A31V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 782378	NM_001256114.2(LHX8):c.783G>T (p.Val261=)	LHX8	Single nucleotide variant (synonymous variant)	LHX8-related disorder +1 more	GBenign
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 625763	GRCh37/hg19 1p31.1(chr1:71410579-78131158)	ACADM, AK5 +21 more	Copy number gain	not provided	GPathogenic
Select item 565111	GRCh37/hg19 1p31.1(chr1:72103442-77186974)x3	LRRIQ3, FPGT-TNNI3K +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 493562	GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3	ACADM, ASB17 +14 more	Copy number gain	not provided	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	ACADM, ADGRL4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	TYW3, UBE2U +209 more	Copy number gain	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41