LHX9[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 3118685	NM_020204.3(LHX9):c.52C>T (p.Pro18Ser)	LHX9 (P18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600033	NM_020204.3(LHX9):c.52C>G (p.Pro18Ala)	LHX9 (P18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360801	NM_020204.3(LHX9):c.136C>A (p.Arg46Ser)	LHX9 (R37S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457045	NM_020204.3(LHX9):c.152C>T (p.Ala51Val)	LHX9 (A42V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595296	NM_020204.3(LHX9):c.185C>G (p.Pro62Arg)	LHX9 (P53R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290637	NM_020204.3(LHX9):c.227G>A (p.Gly76Asp)	LHX9 (G67D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494497	NM_020204.3(LHX9):c.596T>C (p.Leu199Pro)	LHX9 (L190P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315114	NM_020204.3(LHX9):c.641C>T (p.Pro214Leu)	LHX9 (P220L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118686	NM_020204.3(LHX9):c.700G>T (p.Ala234Ser)	LHX9 (A225S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118687	NM_020204.3(LHX9):c.764A>G (p.Asp255Gly)	LHX9 (D255G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543225	NM_020204.3(LHX9):c.791C>T (p.Ser264Leu)	LHX9 (S255L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 985541	NM_020204.3(LHX9):c.947A>G (p.Gln316Arg)	LHX9 (Q307R +1 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359124	NM_020204.3(LHX9):c.983G>A (p.Arg328Gln)	LHX9 (R319Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280675	NM_020204.3(LHX9):c.1033C>T (p.Pro345Ser)	LHX9 (P345S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2497672	NM_020204.3(LHX9):c.1063C>A (p.Pro355Thr)	LHX9 (P346T +1 more)	Single nucleotide variant (missense variant +1 more)	Pituitary stalk interruption syndrome	GUncertain significance
Select item 2521226	NM_020204.3(LHX9):c.1090G>C (p.Asp364His)	LHX9 (D364H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511049	NM_020204.3(LHX9):c.1096A>T (p.Thr366Ser)	LHX9 (T357S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493542	NM_020204.3(LHX9):c.1097C>A (p.Thr366Asn)	LHX9 (T366N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777332	NM_020204.3(LHX9):c.1161C>T (p.Ser387=)	LHX9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 1879127	GRCh37/hg19 1q31.3(chr1:196670448-197898389)x1	ASPM, C1orf53 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808698	GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1	CFHR3, CFHR4 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807694	GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1	ASPM, ATP6V1G3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 686360	GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1	ASPM, ATP6V1G3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	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 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 41