"Ambry Genetics"[submitter] AND "ZDHHC9"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1779784	NM_016032.4(ZDHHC9):c.*4A>G	ZDHHC9	Single nucleotide variant (3 prime UTR variant)	Inborn genetic diseases	GLikely benign
Select item 2491658	NM_016032.4(ZDHHC9):c.1081G>A (p.Glu361Lys)	ZDHHC9 (E361K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607811	NM_016032.4(ZDHHC9):c.1034A>C (p.Glu345Ala)	ZDHHC9 (E345A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2248427	NM_016032.4(ZDHHC9):c.983C>G (p.Pro328Arg)	ZDHHC9 (P328R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231405	NM_016032.4(ZDHHC9):c.979G>A (p.Ala327Thr)	ZDHHC9 (A327T)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Raymond type +1 more	GUncertain significance
Select item 470205	NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=)	ZDHHC9	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Raymond type +3 more	GBenign/Likely benign
Select item 2228665	NM_016032.4(ZDHHC9):c.892C>T (p.Arg298Ter)	ZDHHC9 (R298*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Raymond type +1 more	GPathogenic/Likely pathogenic
Select item 998899	NM_016032.4(ZDHHC9):c.764C>A (p.Thr255Lys)	ZDHHC9 (T255K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2473638	NM_016032.4(ZDHHC9):c.754C>G (p.Leu252Val)	ZDHHC9 (L252V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 986294	NM_016032.4(ZDHHC9):c.748G>A (p.Val250Met)	ZDHHC9 (V250M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985486	NM_016032.4(ZDHHC9):c.743dup (p.Leu249fs)	ZDHHC9 (L249fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 521595	NM_016032.4(ZDHHC9):c.679del (p.Val226_Leu227insTer)	ZDHHC9	Deletion (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1547292	NM_016032.4(ZDHHC9):c.487+14_487+15inv	ZDHHC9	Inversion (intron variant)	Syndromic X-linked intellectual disability Raymond type +1 more	GBenign/Likely benign
Select item 985038	NM_016032.4(ZDHHC9):c.267T>G (p.Ser89Arg)	ZDHHC9 (S89R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545658	NM_016032.4(ZDHHC9):c.202A>G (p.Ile68Val)	ZDHHC9 (I68V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1565857	NM_016032.4(ZDHHC9):c.136C>T (p.Leu46=)	ZDHHC9	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign