ClinVar for Gene (Select 89884) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 3053953	NM_033343.4(LHX4):c.270G>A (p.Thr90=)	LHX4	Single nucleotide variant (synonymous variant)	LHX4-related condition	GLikely benign
Select item 3047092	NM_033343.4(LHX4):c.778+9G>A	ACBD6, LHX4 +1 more	Single nucleotide variant (intron variant)	LHX4-related condition	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 condition	GLikely benign
Select item 3035109	NM_033343.4(LHX4):c.828C>T (p.Asn276=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	LHX4-related condition	GLikely benign
Select item 3032171	NM_033343.4(LHX4):c.1A>G (p.Met1Val)	LHX4 (M1V)	Single nucleotide variant (missense variant +1 more)	LHX4-related condition	GUncertain significance
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 2967857	NM_033343.4(LHX4):c.433G>A (p.Glu145Lys)	LHX4 (E145K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2809385	NM_033343.4(LHX4):c.76+9C>G	LHX4	Single nucleotide variant (intron 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	GUncertain significance
Select item 2720639	NM_033343.4(LHX4):c.847G>A (p.Gly283Arg)	ACBD6, LHX4 +1 more (G283R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2713317	NM_033343.4(LHX4):c.255C>T (p.Phe85=)	LHX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2685834	GRCh37/hg19 1q25.2-25.3(chr1:180119141-180321486)x3	ACBD6, LHX4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685833	GRCh37/hg19 1q25.2(chr1:180023361-180214151)x3	CEP350, LHX4 +1 more	Copy number gain	not provided	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 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 2639602	NM_033343.4(LHX4):c.307C>T (p.Arg103Cys)	LHX4 (R103C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 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 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 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 2511313	NM_033343.4(LHX4):c.406G>A (p.Gly136Arg)	LHX4 (G136R)	Single nucleotide variant (missense variant)	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 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 2446628	NM_033343.4(LHX4):c.331C>T (p.His111Tyr)	LHX4 (H111Y)	Single nucleotide variant (missense variant)	not provided	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 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 2259209	NM_033343.4(LHX4):c.836A>G (p.Asp279Gly)	LHX4, LHX4-AS1 +1 more (D279G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2217805	NM_033343.4(LHX4):c.667C>T (p.Arg223Cys)	LHX4, LHX4-AS1 +1 more (R223C)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2187946	NM_033343.4(LHX4):c.405C>T (p.Asp135=)	LHX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2031127	NM_033343.4(LHX4):c.77-2A>G	LHX4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1987522	NM_033343.4(LHX4):c.248+12C>T	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1954896	NM_033343.4(LHX4):c.168G>A (p.Lys56=)	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 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 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
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 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 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 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 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 1683735	NM_033343.4(LHX4):c.1022T>C (p.Ile341Thr)	ACBD6, LHX4 +1 more (I341T)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome +1 more	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 1570824	NM_033343.4(LHX4):c.77-20C>A	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1510700	NC_000001.10:g.(?_179520308)_(183559464_?)dup	AXDND1, CACNA1E +29 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
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 1428279	NM_033343.4(LHX4):c.382del (p.Asp128fs)	LHX4 (D128fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
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 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 1285896	NM_033343.4(LHX4):c.248+200C>T	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280124	NM_033343.4(LHX4):c.248+65G>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 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 1242935	NM_033343.4(LHX4):c.249-120G>A	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242379	NM_033343.4(LHX4):c.77-284G>A	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 1226843	NM_033343.4(LHX4):c.77-268C>T	LHX4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1098404	NM_033343.4(LHX4):c.171T>G (p.Cys57Trp)	LHX4 (C57W)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 1050485	NM_033343.4(LHX4):c.724_726del (p.Lys242del)	ACBD6, LHX4 +1 more (K242del)	Deletion (inframe_deletion +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	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 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 876750	NM_033343.4(LHX4):c.*460G>C	ACBD6, LHX4	Single nucleotide variant (3 prime UTR variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 876749	NM_033343.4(LHX4):c.*280T>C	ACBD6, LHX4	Single nucleotide variant (3 prime UTR variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
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 +2 more	GConflicting classifications of pathogenicity
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 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 875753	NM_033343.4(LHX4):c.*221G>T	ACBD6, LHX4	Single nucleotide variant (3 prime UTR variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	GUncertain significance
Select item 875752	NM_033343.4(LHX4):c.*154A>G	ACBD6, LHX4	Single nucleotide variant (3 prime UTR 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)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome +2 more	GBenign/Likely benign
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 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 874816	NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr)	ACBD6, LHX4 +1 more (P389T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 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 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 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 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 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic

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