LHX3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	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 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 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	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 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 145568	GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3	CAMSAP1, CARD9 +86 more	Copy number gain	See cases	GUncertain significance
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 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 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 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 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 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 913085	NM_178138.6(LHX3):c.*1063C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365796	NM_178138.6(LHX3):c.*1031A>G	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365797	NM_178138.6(LHX3):c.*956C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365798	NM_178138.6(LHX3):c.*857C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365799	NM_178138.6(LHX3):c.*825C>A	LHX3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 365800	NM_178138.6(LHX3):c.*791G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GLikely benign
Select item 365801	NM_178138.6(LHX3):c.*790C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914234	NM_178138.6(LHX3):c.*780C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365802	NM_178138.6(LHX3):c.*773G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914235	NM_178138.6(LHX3):c.*747C>G	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GLikely benign
Select item 914236	NM_178138.6(LHX3):c.*719C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914718	NM_178138.6(LHX3):c.*715C>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914719	NM_178138.6(LHX3):c.*692C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365803	NM_178138.6(LHX3):c.*638G>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914720	NM_178138.6(LHX3):c.*637T>C	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365804	NM_178138.6(LHX3):c.*582G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914721	NM_178138.6(LHX3):c.*570C>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365805	NM_178138.6(LHX3):c.*554C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914722	NM_178138.6(LHX3):c.*518G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 912769	NM_178138.6(LHX3):c.*517C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365806	NM_178138.6(LHX3):c.*501A>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 912770	NM_178138.6(LHX3):c.*456G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 912771	NM_178138.6(LHX3):c.*437G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365807	NM_178138.6(LHX3):c.*409G>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 912772	NM_178138.6(LHX3):c.*403T>C	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365808	NM_178138.6(LHX3):c.*357G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 912773	NM_178138.6(LHX3):c.*309C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 913129	NM_178138.6(LHX3):c.*237G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365809	NM_178138.6(LHX3):c.*185T>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GBenign
Select item 365810	NM_178138.6(LHX3):c.*161C>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 913130	NM_178138.6(LHX3):c.*140G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365811	NM_178138.6(LHX3):c.*104del	LHX3	Deletion (3 prime UTR variant)	Combined Pituitary Hormone Deficiency, Recessive +1 more	GBenign/Likely benign
Select item 365812	NM_178138.6(LHX3):c.*55G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365813	NM_178138.6(LHX3):c.*32G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 913131	NM_178138.6(LHX3):c.*31C>G	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365814	NM_178138.6(LHX3):c.*9C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 9026	NC_000009.12:g.(?_136197325)_(136205012_?)del	LHX3	Deletion	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GPathogenic
Select item 1532853	NM_178138.6(LHX3):c.1185T>C (p.Ala395=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1117170	NM_178138.6(LHX3):c.1182C>T (p.His394=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653269	NM_178138.6(LHX3):c.1176A>G (p.Val392=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 290684	NM_178138.6(LHX3):c.1161C>T (p.Ser387=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2967404	NM_178138.6(LHX3):c.1158C>T (p.Ala386=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1146546	NM_178138.6(LHX3):c.1158C>G (p.Ala386=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 737703	NM_178138.6(LHX3):c.1155C>T (p.Pro385=)	LHX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1140453	NM_178138.6(LHX3):c.1149C>A (p.Ala383=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1411543	NM_178138.6(LHX3):c.1148C>T (p.Ala383Val)	LHX3 (A372V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823099	NM_178138.6(LHX3):c.1146T>C (p.Pro382=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094478	NM_178138.6(LHX3):c.1140C>T (p.Asp380=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180892	NM_178138.6(LHX3):c.1138G>A (p.Asp380Asn)	LHX3 (D369N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116816	NM_178138.6(LHX3):c.1137C>G (p.Pro379=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557362	NM_178138.6(LHX3):c.1137C>A (p.Pro379=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1111939	NM_178138.6(LHX3):c.1137C>T (p.Pro379=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737071	NM_178138.6(LHX3):c.1125C>T (p.Ser375=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699497	NM_178138.6(LHX3):c.1122C>T (p.Ser374=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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