"Eurofins Ntd Llc (ga)"[submitter] AND "HDAC4"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195974	NM_001378414.1(HDAC4):c.3174C>T (p.Ala1058=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 281556	NM_001378414.1(HDAC4):c.2661A>G (p.Thr887=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 290795	NM_001378414.1(HDAC4):c.2434A>G (p.Ser812Gly)	HDAC4 (S807G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283520	NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr)	HDAC4 (A786T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 288136	NM_001378414.1(HDAC4):c.2346C>T (p.Cys782=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 194752	NM_001378414.1(HDAC4):c.2234-11dup	HDAC4	Duplication (intron variant)	not provided	GUncertain significance
Select item 286084	NM_001378414.1(HDAC4):c.2190G>A (p.Thr730=)	HDAC4	Single nucleotide variant (synonymous variant)	HDAC4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 283196	NM_001378414.1(HDAC4):c.2163G>A (p.Ser721=)	HDAC4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 284214	NM_001378414.1(HDAC4):c.2151G>A (p.Gln717=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 194524	NM_001378414.1(HDAC4):c.2052C>T (p.Ala684=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 286942	NM_001378414.1(HDAC4):c.2006A>G (p.Lys669Arg)	HDAC4 (K664R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284858	NM_001378414.1(HDAC4):c.1978+8G>A	HDAC4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 281906	NM_001378414.1(HDAC4):c.1953C>T (p.Pro651=)	HDAC4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 281400	NM_001378414.1(HDAC4):c.1809G>A (p.Glu603=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 284730	NM_001378414.1(HDAC4):c.1692G>A (p.Lys564=)	HDAC4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 594038	NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu)	HDAC4 (P545L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with central hypotonia and dysmorphic facies +2 more	GUncertain significance
Select item 592984	NM_001378414.1(HDAC4):c.1458C>T (p.Val486=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 194073	NM_001378414.1(HDAC4):c.1434C>T (p.Asn478=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 502467	NM_001378414.1(HDAC4):c.1358G>A (p.Arg453Gln)	HDAC4 (R448Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596967	NM_001378414.1(HDAC4):c.1101G>A (p.Thr367=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 287012	NM_001378414.1(HDAC4):c.1100C>T (p.Thr367Met)	HDAC4 (T367M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284951	NM_001378414.1(HDAC4):c.1095+10C>G	HDAC4	Single nucleotide variant (intron variant)	HDAC4-related condition +2 more	GBenign/Likely benign
Select item 284720	NM_001378414.1(HDAC4):c.958G>A (p.Val320Ile)	HDAC4 (V320I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 283931	NM_001378414.1(HDAC4):c.955G>A (p.Ala319Thr)	HDAC4 (A319T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 286558	NM_001378414.1(HDAC4):c.952C>T (p.Pro318Ser)	HDAC4 (P318S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 499899	NM_001378414.1(HDAC4):c.922G>A (p.Gly308Arg)	HDAC4 (G308R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 501228	NM_001378414.1(HDAC4):c.865+8G>A	HDAC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 284218	NM_001378414.1(HDAC4):c.684G>A (p.Pro228=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 198538	NM_001378414.1(HDAC4):c.681C>T (p.His227=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 288907	NM_001378414.1(HDAC4):c.571C>T (p.Leu191=)	HDAC4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 282939	NM_001378414.1(HDAC4):c.567G>A (p.Arg189=)	HDAC4	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 289383	NM_001378414.1(HDAC4):c.339+10G>A	HDAC4	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 287967	NM_001378414.1(HDAC4):c.222G>A (p.Glu74=)	HDAC4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign

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Items: 33