LHX4-AS1[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145595	GRCh38/hg38 1q25.2-25.3(chr1:180210306-180309409)x3	ACBD6, LHX4 +3 more	Copy number gain	See cases	GLikely benign
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=)	ACBD6, LHX4 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	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
Select item 3290625	NM_033343.4(LHX4):c.688A>G (p.Ser230Gly)	ACBD6, LHX4 +1 more (S230G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3236639	NM_033343.4(LHX4):c.689G>A (p.Ser230Asn)	ACBD6, LHX4 +1 more (S230N)	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 720999	NM_033343.4(LHX4):c.690C>T (p.Ser230=)	ACBD6, LHX4 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome +1 more	GBenign/Likely benign
Select item 2970797	NM_033343.4(LHX4):c.691G>A (p.Val231Ile)	ACBD6, LHX4 +1 more (V231I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3238840	NM_033343.4(LHX4):c.694A>G (p.Lys232Glu)	ACBD6, LHX4 +1 more (K232E)	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 3290622	NM_033343.4(LHX4):c.703C>T (p.Arg235Trp)	ACBD6, LHX4 +1 more (R235W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3290626	NM_033343.4(LHX4):c.704G>C (p.Arg235Pro)	ACBD6, LHX4 +1 more (R235P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 801583	NM_033343.4(LHX4):c.704G>A (p.Arg235Gln)	ACBD6, LHX4 +1 more (R235Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1050485	NM_033343.4(LHX4):c.724_726del (p.Lys242del)	ACBD6, LHX4 +1 more (K242del)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1704607	NM_033343.4(LHX4):c.727_732dup (p.Ser244_Ser245insGluSer)	ACBD6, LHX4 +1 more	Duplication (inframe_indel +2 more)	not specified	GUncertain significance
Select item 3233450	NM_033343.4(LHX4):c.737C>T (p.Ala246Val)	ACBD6, LHX4 +1 more (A246V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 492769	NM_033343.4(LHX4):c.740A>T (p.Glu247Val)	ACBD6, LHX4 +1 more (E247V)	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome +1 more	GUncertain significance
Select item 2627038	NM_033343.4(LHX4):c.743A>T (p.Asp248Val)	ACBD6, LHX4 +1 more (D248V)	Single nucleotide variant (non-coding transcript variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 293867	NM_033343.4(LHX4):c.774C>T (p.Phe258=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GLikely benign
Select item 293868	NM_033343.4(LHX4):c.775C>G (p.Arg259Gly)	ACBD6, LHX4 +1 more (R259G)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 801584	NM_033343.4(LHX4):c.776G>A (p.Arg259Gln)	ACBD6, LHX4 +1 more (R259Q)	Single nucleotide variant (missense variant)	LHX4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3047092	NM_033343.4(LHX4):c.778+9G>A	ACBD6, LHX4 +1 more	Single nucleotide variant (intron variant)	LHX4-related disorder	GUncertain significance
Select item 262224	NM_033343.4(LHX4):c.778+14G>T	ACBD6, LHX4 +1 more	Single nucleotide variant (intron variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome +2 more	GBenign
Select item 452128	NM_033343.4(LHX4):c.784C>T (p.Gln262Ter)	LHX4-AS1, LHX4 +1 more (Q262*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2672370	NM_033343.4(LHX4):c.805C>A (p.His269Asn)	ACBD6, LHX4 +1 more (H269N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710224	NM_033343.4(LHX4):c.822T>A (p.Tyr274Ter)	ACBD6, LHX4 +1 more (Y274*)	Single nucleotide variant (nonsense)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 3035109	NM_033343.4(LHX4):c.828C>T (p.Asn276=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	LHX4-related disorder	GLikely benign
Select item 2259209	NM_033343.4(LHX4):c.836A>G (p.Asp279Gly)	ACBD6, LHX4 +1 more (D279G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 293869	NM_033343.4(LHX4):c.837C>T (p.Asp279=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2716323	NM_033343.4(LHX4):c.846C>T (p.Gly282=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750126	NM_033343.4(LHX4):c.846C>A (p.Gly282=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720639	NM_033343.4(LHX4):c.847G>A (p.Gly283Arg)	ACBD6, LHX4 +1 more (G283R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 873866	NM_033343.4(LHX4):c.849A>C (p.Gly283=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3290620	NM_033343.4(LHX4):c.855A>C (p.Leu285Phe)	ACBD6, LHX4 +1 more (L285F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672371	NM_033343.4(LHX4):c.857T>C (p.Met286Thr)	ACBD6, LHX4 +1 more (M286T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601148	NM_033343.4(LHX4):c.879C>T (p.Asp293=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2055281	NM_033343.4(LHX4):c.898C>A (p.Gln300Lys)	ACBD6, LHX4 +1 more (Q300K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 293870	NM_033343.4(LHX4):c.924T>C (p.Tyr308=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome +1 more	GBenign/Likely benign
Select item 749051	NM_033343.4(LHX4):c.942A>C (p.Pro314=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723874	NM_033343.4(LHX4):c.953C>T (p.Ser318Leu)	ACBD6, LHX4 +1 more (S318L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 746157	NM_033343.4(LHX4):c.969C>T (p.His323=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744423	NM_033343.4(LHX4):c.970G>A (p.Ala324Thr)	ACBD6, LHX4 +1 more (A324T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 262225	NM_033343.4(LHX4):c.983A>G (p.Asn328Ser)	ACBD6, LHX4 +1 more (N328S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 293871	NM_033343.4(LHX4):c.998C>T (p.Thr333Met)	ACBD6, LHX4 +1 more (T333M)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 1723057	NM_033343.4(LHX4):c.1006A>G (p.Ser336Gly)	LHX4, ACBD6 +1 more (S336G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 874814	NM_033343.4(LHX4):c.1007G>A (p.Ser336Asn)	ACBD6, LHX4 +1 more (S336N)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 764591	NM_033343.4(LHX4):c.1017C>G (p.Gly339=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1683735	NM_033343.4(LHX4):c.1022T>C (p.Ile341Thr)	ACBD6, LHX4 +1 more (I341T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3043316	NM_033343.4(LHX4):c.1026G>A (p.Ala342=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	LHX4-related disorder	GLikely benign
Select item 441033	NM_033343.4(LHX4):c.1052C>T (p.Thr351Met)	ACBD6, LHX4 +1 more (T351M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738533	NM_033343.4(LHX4):c.1053G>A (p.Thr351=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552786	NM_033343.4(LHX4):c.1061C>T (p.Ala354Val)	ACBD6, LHX4 +1 more (A354V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 391349	NM_033343.4(LHX4):c.1066G>A (p.Ala356Thr)	ACBD6, LHX4 +1 more (A356T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312893	NM_033343.4(LHX4):c.1071_1073del (p.Gly358del)	ACBD6, LHX4 +1 more (G358del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2433431	NM_033343.4(LHX4):c.1070G>A (p.Gly357Glu)	ACBD6, LHX4 +1 more (G357E)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 2433430	NM_033343.4(LHX4):c.1087A>T (p.Ile363Phe)	ACBD6, LHX4 +1 more (I363F)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 3290624	NM_033343.4(LHX4):c.1103G>T (p.Ser368Ile)	ACBD6, LHX4 +1 more (S368I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 384092	NM_033343.4(LHX4):c.1110C>G (p.Gly370=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290623	NM_033343.4(LHX4):c.1112A>C (p.Tyr371Ser)	ACBD6, LHX4 +1 more (Y371S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2076352	NM_033343.4(LHX4):c.1116C>T (p.Pro372=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3118665	NM_033343.4(LHX4):c.1154T>C (p.Met385Thr)	ACBD6, LHX4 +1 more (M385T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290627	NM_033343.4(LHX4):c.1157A>G (p.Asp386Gly)	ACBD6, LHX4 +1 more (D386G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193254	NM_033343.4(LHX4):c.1158T>A (p.Asp386Glu)	ACBD6, LHX4 +1 more (D386E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 874815	NM_033343.4(LHX4):c.1160A>C (p.His387Pro)	ACBD6, LHX4 +1 more (H387P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2551201	NM_033343.4(LHX4):c.1161T>G (p.His387Gln)	ACBD6, LHX4 +1 more (H387Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7510	NM_033343.4(LHX4):c.1162C>A (p.Pro388Thr)	ACBD6, LHX4 +1 more (P388T)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GPathogenic
Select item 874816	NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr)	ACBD6, LHX4 +1 more (P389T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 874817	NM_033343.4(LHX4):c.*8T>C	LHX4-AS1, ACBD6 +1 more	Single nucleotide variant (3 prime UTR variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 874818	NM_033343.4(LHX4):c.*17C>T	ACBD6, LHX4 +1 more	Single nucleotide variant (3 prime UTR variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 293872	NM_033343.4(LHX4):c.*17C>A	ACBD6, LHX4 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 293873	NM_033343.4(LHX4):c.*26C>T	ACBD6, LHX4 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 293874	NM_033343.4(LHX4):c.*28C>A	ACBD6, LHX4 +1 more	Single nucleotide variant (3 prime UTR variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 293875	NM_033343.4(LHX4):c.*91C>T	ACBD6, LHX4 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 293876	NM_033343.4(LHX4):c.*97T>G	ACBD6, LHX4 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GBenign

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