"GeneDx"[submitter] AND "ACBD6"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3373132	NC_000001.11:g.180271835_180271846del	ACBD6, LHX4 +1 more	Deletion (non-coding transcript variant)	not provided	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 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 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 3369054	NM_033343.4(LHX4):c.983_999del (p.Asn328fs)	ACBD6, LHX4 +1 more (N328fs)	Deletion (frameshift variant)	not provided	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 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 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 3363383	NM_032360.4(ACBD6):c.63_64del (p.Asp23fs)	ACBD6 (D23fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 254006	GRCh37/hg19 1q25.2(chr1:180216801-180298307)x3	LHX4, ACBD6	Copy number gain	See cases	GUncertain significance
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic