LHX4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
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 145463	GRCh38/hg38 1q25.2(chr1:180062186-180251588)x3	CEP350, LHX4 +8 more	Copy number gain	See cases	GUncertain significance
Select item 154520	GRCh38/hg38 1q25.2(chr1:180062193-180248477)x3	CEP350, LHX4 +8 more	Copy number gain	See cases	GUncertain significance
Select item 150649	GRCh38/hg38 1q25.2(chr1:180062193-180251550)x3	CEP350, LHX4 +8 more	Copy number gain	See cases	GLikely benign
Select item 145595	GRCh38/hg38 1q25.2-25.3(chr1:180210306-180309409)x3	ACBD6, LHX4 +3 more	Copy number gain	See cases	GLikely benign
Select item 874770	NM_033343.4(LHX4):c.-221G>A	LHX4	Single nucleotide variant (5 prime UTR variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 293853	NM_033343.4(LHX4):c.-172A>G	LHX4	Single nucleotide variant (5 prime UTR variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 293854	NM_033343.4(LHX4):c.-134G>C	LHX4	Single nucleotide variant (5 prime UTR variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 293855	NM_033343.4(LHX4):c.-121T>G	LHX4	Single nucleotide variant (5 prime UTR variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 293856	NM_033343.4(LHX4):c.-120C>T	LHX4	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 3032171	NM_033343.4(LHX4):c.1A>G (p.Met1Val)	LHX4 (M1V)	Single nucleotide variant (missense variant +1 more)	LHX4-related disorder	GUncertain significance
Select item 3290628	NM_033343.4(LHX4):c.4A>G (p.Met2Val)	LHX4 (M2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433432	NM_033343.4(LHX4):c.37_39del (p.Val13del)	LHX4 (V13del)	Deletion (inframe_deletion)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 293857	NM_033343.4(LHX4):c.37G>A (p.Val13Ile)	LHX4 (V13I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3233678	NM_033343.4(LHX4):c.50C>T (p.Pro17Leu)	LHX4 (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 293858	NM_033343.4(LHX4):c.63T>C (p.Gly21=)	LHX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2809385	NM_033343.4(LHX4):c.76+9C>G	LHX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242379	NM_033343.4(LHX4):c.77-284G>A	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226843	NM_033343.4(LHX4):c.77-268C>T	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230908	NM_033343.4(LHX4):c.77-228C>A	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269459	NM_033343.4(LHX4):c.77-170C>T	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1570824	NM_033343.4(LHX4):c.77-20C>A	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2031127	NM_033343.4(LHX4):c.77-2A>G	LHX4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 293859	NM_033343.4(LHX4):c.83C>T (p.Pro28Leu)	LHX4 (P28L)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 931541	NM_033343.4(LHX4):c.90C>G (p.Cys30Trp)	LHX4 (C30W)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 875703	NM_033343.4(LHX4):c.90C>T (p.Cys30=)	LHX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 293860	NM_033343.4(LHX4):c.91G>A (p.Ala31Thr)	LHX4 (A31T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 764227	NM_033343.4(LHX4):c.123C>T (p.Phe41=)	LHX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 293861	NM_033343.4(LHX4):c.146A>G (p.His49Arg)	LHX4 (H49R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3339012	NM_033343.4(LHX4):c.156C>T (p.Ser52=)	LHX4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1954896	NM_033343.4(LHX4):c.168G>A (p.Lys56=)	LHX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1098404	NM_033343.4(LHX4):c.171T>G (p.Cys57Trp)	LHX4 (C57W)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 708304	NM_033343.4(LHX4):c.195G>A (p.Ala65=)	LHX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954169	NM_033343.4(LHX4):c.214G>A (p.Ala72Thr)	LHX4 (A72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336214	NM_033343.4(LHX4):c.222C>G (p.Ser74Arg)	LHX4 (S74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336082	NM_033343.4(LHX4):c.222C>T (p.Ser74=)	LHX4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 876695	NM_033343.4(LHX4):c.223G>A (p.Val75Ile)	LHX4 (V75I)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GLikely benign
Select item 3118666	NM_033343.4(LHX4):c.239A>G (p.Asp80Gly)	LHX4 (D80G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1987522	NM_033343.4(LHX4):c.248+12C>T	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 293862	NM_033343.4(LHX4):c.248+13G>A	LHX4	Single nucleotide variant (intron variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 1280124	NM_033343.4(LHX4):c.248+65G>A	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285896	NM_033343.4(LHX4):c.248+200C>T	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242935	NM_033343.4(LHX4):c.249-120G>A	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 7508	NM_033343.4(LHX4):c.250C>T (p.Arg84Cys)	LHX4 (R84C)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GConflicting classifications of pathogenicity
Select item 1450590	NM_033343.4(LHX4):c.251G>A (p.Arg84His)	LHX4 (R84H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713317	NM_033343.4(LHX4):c.255C>T (p.Phe85=)	LHX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 876696	NM_033343.4(LHX4):c.269C>G (p.Thr90Arg)	LHX4 (T90R)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 3053953	NM_033343.4(LHX4):c.270G>A (p.Thr90=)	LHX4	Single nucleotide variant (synonymous variant)	LHX4-related disorder	GLikely benign
Select item 18444	NM_033343.4(LHX4):c.293dup (p.Thr99fs)	LHX4 (T99fs)	Duplication (frameshift variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GPathogenic
Select item 280160	NM_033343.4(LHX4):c.295del (p.Thr99fs)	LHX4 (T99fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2627224	NM_033343.4(LHX4):c.300G>C (p.Gln100His)	LHX4 (Q100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639602	NM_033343.4(LHX4):c.307C>T (p.Arg103Cys)	LHX4 (R103C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985112	NM_033343.4(LHX4):c.308G>A (p.Arg103His)	LHX4 (R103H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446628	NM_033343.4(LHX4):c.331C>T (p.His111Tyr)	LHX4 (H111Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 492768	NM_033343.4(LHX4):c.359G>A (p.Cys120Tyr)	LHX4 (C120Y)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 1	GUncertain significance
Select item 2627082	NM_033343.4(LHX4):c.364C>T (p.Arg122Trp)	LHX4 (R122W)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 252767	NM_033343.4(LHX4):c.365G>A (p.Arg122Gln)	LHX4 (R122Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2244227	NM_033343.4(LHX4):c.374C>T (p.Ala125Val)	LHX4 (A125V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1428279	NM_033343.4(LHX4):c.382del (p.Asp128fs)	LHX4 (D128fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 876697	NM_033343.4(LHX4):c.378G>A (p.Thr126=)	LHX4	Single nucleotide variant (synonymous variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome +1 more	GConflicting classifications of pathogenicity
Select item 293863	NM_033343.4(LHX4):c.384C>T (p.Asp128=)	LHX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 727667	NM_033343.4(LHX4):c.385G>A (p.Glu129Lys)	LHX4 (E129K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 293864	NM_033343.4(LHX4):c.398T>C (p.Met133Thr)	LHX4 (M133T)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GLikely benign
Select item 2187946	NM_033343.4(LHX4):c.405C>T (p.Asp135=)	LHX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2511313	NM_033343.4(LHX4):c.406G>A (p.Gly136Arg)	LHX4 (G136R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2967857	NM_033343.4(LHX4):c.433G>A (p.Glu145Lys)	LHX4 (E145K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262223	NM_033343.4(LHX4):c.450C>T (p.Asn150=)	LHX4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2573040	NM_033343.4(LHX4):c.451G>C (p.Asp151His)	LHX4 (D151H)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 735772	NM_033343.4(LHX4):c.451+8G>C	LHX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293865	NM_033343.4(LHX4):c.451+15C>T	LHX4	Single nucleotide variant (intron variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 293866	NM_033343.4(LHX4):c.452-5T>C	ACBD6, LHX4 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 189234	NM_033343.4(LHX4):c.452-2A>C	ACBD6, LHX4 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GPathogenic
Select item 1224351	NM_033343.4(LHX4):c.456C>G (p.Asp152Glu)	ACBD6, LHX4 +1 more (D152E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1213718	NM_033343.4(LHX4):c.464C>T (p.Ala155Val)	ACBD6, LHX4 +1 more (A155V)	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 3253507	NM_033343.4(LHX4):c.475C>T (p.Arg159Trp)	ACBD6, LHX4 +1 more (R159W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2580732	NM_033343.4(LHX4):c.482G>A (p.Arg161Gln)	ACBD6, LHX4 +1 more (R161Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 873865	NM_033343.4(LHX4):c.486C>A (p.Thr162=)	ACBD6, LHX4 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 2886993	NM_033343.4(LHX4):c.498C>T (p.Ala166=)	LHX4-AS1, ACBD6 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1705660	NM_033343.4(LHX4):c.569T>C (p.Leu190Pro)	LHX4-AS1, ACBD6 +1 more (L190P)	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 7509	NM_033343.4(LHX4):c.569T>G (p.Leu190Arg)	LHX4-AS1, ACBD6 +1 more (L190R)	Single nucleotide variant (missense variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GPathogenic
Select item 976050	NM_033343.4(LHX4):c.602T>C (p.Val201Ala)	ACBD6, LHX4-AS1 +1 more (V201A)	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 489130	NM_033343.4(LHX4):c.606+4A>G	ACBD6, LHX4 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1266198	NM_033343.4(LHX4):c.606+83C>T	ACBD6, LHX4 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2959097	NM_033343.4(LHX4):c.607-17T>C	ACBD6, LHX4 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 7506	NM_033343.4(LHX4):c.607-1G>C	ACBD6, LHX4 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GPathogenic
Select item 801582	NM_033343.4(LHX4):c.608T>G (p.Val203Gly)	ACBD6, LHX4-AS1 +1 more (V203G)	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GLikely benign
Select item 1687382	NM_033343.4(LHX4):c.621C>G (p.Asn207Lys)	ACBD6, LHX4 +1 more (N207K)	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 3118668	NM_033343.4(LHX4):c.623G>A (p.Arg208Lys)	ACBD6, LHX4 +1 more (R208K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505709	NM_033343.4(LHX4):c.624A>C (p.Arg208Ser)	LHX4-AS1, ACBD6 +1 more (R208S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 7507	NM_033343.4(LHX4):c.628G>C (p.Ala210Pro)	ACBD6, LHX4-AS1 +1 more (A210P)	Single nucleotide variant (missense variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GPathogenic
Select item 1308386	NM_033343.4(LHX4):c.652G>A (p.Asp218Asn)	ACBD6, LHX4 +1 more (D218N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1948652	NM_033343.4(LHX4):c.661C>T (p.Arg221Trp)	ACBD6, LHX4 +1 more (R221W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2217805	NM_033343.4(LHX4):c.667C>T (p.Arg223Cys)	ACBD6, LHX4 +1 more (R223C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457646	NM_033343.4(LHX4):c.683A>G (p.Tyr228Cys)	ACBD6, LHX4 +1 more (Y228C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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