ClinVar for Gene (Select 8022) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353619	NM_178138.6(LHX3):c.21C>G (p.Leu7=)	LHX3	Single nucleotide variant (synonymous variant)	LHX3-related disorder	GLikely benign
Select item 3339261	NM_178138.6(LHX3):c.76C>G (p.Arg26Gly)	LHX3 (R26G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290619	NM_178138.6(LHX3):c.79+1932C>T	LHX3 (S13L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3290618	NM_178138.6(LHX3):c.1108C>G (p.Leu370Val)	LHX3 (L359V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245346	NC_000009.11:g.(?_139094782)_(139096868_?)del	LHX3	Deletion	not provided	GPathogenic
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3118664	NM_178138.6(LHX3):c.887A>G (p.Glu296Gly)	LHX3 (E296G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118663	NM_178138.6(LHX3):c.803C>G (p.Pro268Arg)	LHX3 (P257R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118661	NM_178138.6(LHX3):c.253C>A (p.Arg85Ser)	LHX3 (R85S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118660	NM_178138.6(LHX3):c.1170T>A (p.Asp390Glu)	LHX3 (D379E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118659	NM_178138.6(LHX3):c.1156G>A (p.Ala386Thr)	LHX3 (A386T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118658	NM_178138.6(LHX3):c.1085C>T (p.Ala362Val)	LHX3 (A362V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065805	NM_178138.6(LHX3):c.634_636del (p.Glu212del)	LHX3 (E201del +2 more)	Deletion (inframe_deletion)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3023398	NM_178138.6(LHX3):c.1071C>T (p.Pro357=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017678	NM_178138.6(LHX3):c.486G>T (p.Thr162=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016491	NM_178138.6(LHX3):c.251+14C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016157	NM_178138.6(LHX3):c.776-11T>C	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014110	NM_178138.6(LHX3):c.79+2000G>A	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009808	NM_178138.6(LHX3):c.607-16C>A	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009103	NM_178138.6(LHX3):c.541A>G (p.Lys181Glu)	LHX3 (K170E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008623	NM_178138.6(LHX3):c.79+1900G>A	LHX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007676	NM_178138.6(LHX3):c.775+18G>A	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003708	NM_178138.6(LHX3):c.258C>T (p.Phe86=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999979	NM_178138.6(LHX3):c.393C>T (p.Phe131=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999032	NM_178138.6(LHX3):c.606+16T>C	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993425	NM_178138.6(LHX3):c.378C>T (p.Ala126=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988810	NM_178138.6(LHX3):c.546G>T (p.Pro182=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988711	NM_178138.6(LHX3):c.455-19C>G	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987368	NM_178138.6(LHX3):c.459C>G (p.Ala153=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986760	NM_178138.6(LHX3):c.455-14C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970012	NM_178138.6(LHX3):c.455-18C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967404	NM_178138.6(LHX3):c.1158C>T (p.Ala386=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920491	NM_178138.6(LHX3):c.798G>T (p.Met266Ile)	LHX3 (M255I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917531	NM_178138.6(LHX3):c.607-17C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916632	NM_178138.6(LHX3):c.80-4A>C	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914738	NM_178138.6(LHX3):c.203G>A (p.Arg68His)	LHX3 (R57H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914597	NM_178138.6(LHX3):c.455-17_455-16insGA	LHX3	Insertion (intron variant)	not provided	GLikely benign
Select item 2909142	NM_178138.6(LHX3):c.776-17C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908111	NM_178138.6(LHX3):c.454+12G>C	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907055	NM_178138.6(LHX3):c.387C>T (p.Asp129=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902577	NM_178138.6(LHX3):c.607-16C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900368	NM_178138.6(LHX3):c.252-15C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898990	NM_178138.6(LHX3):c.776-19G>A	LHX3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2895247	NM_178138.6(LHX3):c.252-11G>A	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886307	NM_178138.6(LHX3):c.455-4G>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876134	NM_178138.6(LHX3):c.606+14C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875580	NM_178138.6(LHX3):c.79+2004G>C	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875392	NM_178138.6(LHX3):c.775+16G>A	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870272	NM_178138.6(LHX3):c.222G>A (p.Glu74=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854972	NM_178138.6(LHX3):c.252-6C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853583	NM_178138.6(LHX3):c.1110A>G (p.Leu370=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853530	NM_178138.6(LHX3):c.183C>T (p.Cys61=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851429	NM_178138.6(LHX3):c.233del (p.Cys78fs)	LHX3 (C67fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2851162	NM_178138.6(LHX3):c.747G>A (p.Gln249=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848953	NM_178138.6(LHX3):c.454+9_454+10del	LHX3	Deletion (intron variant)	not provided	GLikely benign
Select item 2848383	NM_178138.6(LHX3):c.1119G>T (p.Gly373=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840474	NM_178138.6(LHX3):c.990C>G (p.Pro330=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833596	NM_178138.6(LHX3):c.79+2003_79+2007del	LHX3	Deletion (intron variant)	not provided	GLikely benign
Select item 2830298	NM_178138.6(LHX3):c.79+1998C>G	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826897	NM_178138.6(LHX3):c.243C>T (p.Asp81=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823099	NM_178138.6(LHX3):c.1146T>C (p.Pro382=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821266	NM_178138.6(LHX3):c.252-14T>C	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820672	NM_178138.6(LHX3):c.251+7C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811258	NM_178138.6(LHX3):c.255C>T (p.Arg85=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806421	NM_178138.6(LHX3):c.471C>T (p.Ala157=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804811	NM_178138.6(LHX3):c.606+12C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803367	NM_178138.6(LHX3):c.933C>A (p.Pro311=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801741	NM_178138.6(LHX3):c.606+7G>C	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798766	NM_178138.6(LHX3):c.607-14C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798504	NM_178138.6(LHX3):c.337C>T (p.Leu113=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797007	NM_178138.6(LHX3):c.573G>A (p.Ser191=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792556	NM_178138.6(LHX3):c.80-9T>G	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791169	NM_178138.6(LHX3):c.454+16G>C	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790718	NM_178138.6(LHX3):c.607-9C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790316	NM_178138.6(LHX3):c.455-13G>C	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790315	NM_178138.6(LHX3):c.455-13_455-12insT	LHX3	Insertion (intron variant)	not provided	GLikely benign
Select item 2790005	NM_178138.6(LHX3):c.165T>A (p.Cys55Ter)	LHX3 (C55* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2786704	NM_178138.6(LHX3):c.627G>A (p.Arg209=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783214	NM_178138.6(LHX3):c.1023C>T (p.Asp341=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781075	NM_178138.6(LHX3):c.252-16C>T	LHX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777801	NM_178138.6(LHX3):c.1044C>T (p.Pro348=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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