"PreventionGenetics, part of Exact Sciences"[submitter] AND "ACBD6"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	not specified +2 more	GBenign
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 873866	NM_033343.4(LHX4):c.849A>C (p.Gly283=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	LHX4-related disorder +2 more	GBenign/Likely benign
Select item 1601148	NM_033343.4(LHX4):c.879C>T (p.Asp293=)	ACBD6, LHX4 +1 more	Single nucleotide variant (synonymous variant)	LHX4-related disorder +1 more	GBenign/Likely benign
Select item 262225	NM_033343.4(LHX4):c.983A>G (p.Asn328Ser)	ACBD6, LHX4 +1 more (N328S)	Single nucleotide variant (missense variant)	Short stature-pituitary and cerebellar defects-small sella turcica syndrome +2 more	GBenign
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 3048595	NM_032360.4(ACBD6):c.663+7G>A	ACBD6	Single nucleotide variant (intron variant)	ACBD6-related disorder	GLikely benign
Select item 3058365	NM_032360.4(ACBD6):c.456A>G (p.Glu152=)	ACBD6	Single nucleotide variant (synonymous variant)	ACBD6-related disorder	GLikely benign
Select item 3033539	NM_032360.4(ACBD6):c.223-6A>G	ACBD6	Single nucleotide variant (intron variant)	ACBD6-related disorder	GLikely benign
Select item 3057913	NM_032360.4(ACBD6):c.54G>A (p.Glu18=)	ACBD6	Single nucleotide variant (synonymous variant)	ACBD6-related disorder	GLikely benign
Select item 3035697	NM_032360.4(ACBD6):c.-10G>T	ACBD6	Single nucleotide variant (5 prime UTR variant)	ACBD6-related disorder	GLikely benign