"GeneDx"[submitter] AND "CHD5"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929144, LOC129929145 +458 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 2497924	NM_015557.3(CHD5):c.5843G>A (p.Gly1948Glu)	CHD5 (G1948E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315245	NM_015557.3(CHD5):c.5689C>T (p.Arg1897Cys)	CHD5 (R1897C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571825	NM_015557.3(CHD5):c.5656C>G (p.Pro1886Ala)	CHD5 (P1886A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712673	NM_015557.3(CHD5):c.5308G>C (p.Glu1770Gln)	CHD5 (E1770Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305742	NM_015557.3(CHD5):c.5086G>A (p.Asp1696Asn)	CHD5 (D1696N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307836	NM_015557.3(CHD5):c.4852C>T (p.Arg1618Ter)	CHD5 (R1618*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1341628	NM_015557.3(CHD5):c.4498G>A (p.Val1500Met)	CHD5 (V1500M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663450	NM_015557.3(CHD5):c.4418G>A (p.Arg1473Gln)	CHD5 (R1473Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313696	NM_015557.3(CHD5):c.4280G>A (p.Arg1427Gln)	CHD5 (R1427Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2430654	NM_015557.3(CHD5):c.4279C>T (p.Arg1427Ter)	CHD5 (R1427*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1310606	NM_015557.3(CHD5):c.4260+5G>T	CHD5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1303424	NM_015557.3(CHD5):c.4171+3G>T	CHD5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2582098	NM_015557.3(CHD5):c.4139A>T (p.Asp1380Val)	CHD5 (D1380V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995785	NM_015557.3(CHD5):c.4079-3C>G	CHD5	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1683961	NM_015557.3(CHD5):c.3953A>G (p.Asp1318Gly)	CHD5 (D1318G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504936	NM_015557.3(CHD5):c.3587G>A (p.Gly1196Asp)	CHD5 (G1196D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326174	NM_015557.3(CHD5):c.3517G>T (p.Val1173Leu)	CHD5 (V1173L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995782	NM_015557.3(CHD5):c.3371C>T (p.Pro1124Leu)	CHD5 (P1124L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1806692	NM_015557.3(CHD5):c.3358T>C (p.Ser1120Pro)	CHD5 (S1120P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580535	NM_015557.3(CHD5):c.3104A>C (p.Lys1035Thr)	CHD5 (K1035T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661955	NM_015557.3(CHD5):c.3089A>G (p.Gln1030Arg)	CHD5 (Q1030R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312268	NM_015557.3(CHD5):c.3064T>C (p.Ser1022Pro)	CHD5 (S1022P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696970	NM_015557.3(CHD5):c.2937A>C (p.Gln979His)	CHD5 (Q979H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314111	NM_015557.3(CHD5):c.2918C>T (p.Ser973Phe)	CHD5 (S973F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213025	NM_015557.3(CHD5):c.2792G>A (p.Arg931Gln)	CHD5 (R931Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 995780	NM_015557.3(CHD5):c.2735C>T (p.Ser912Phe)	CHD5 (S912F)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GPathogenic/Likely pathogenic
Select item 1710622	NM_015557.3(CHD5):c.2541T>G (p.Asp847Glu)	CHD5 (D847E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1228258	NM_015557.3(CHD5):c.2493T>C (p.Ile831=)	CHD5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1287396	NM_015557.3(CHD5):c.2437-18T>C	CHD5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2581948	NM_015557.3(CHD5):c.2197G>A (p.Val733Met)	CHD5 (V733M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572853	NM_015557.3(CHD5):c.1877T>C (p.Ile626Thr)	CHD5 (I626T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443632	NM_015557.3(CHD5):c.1819G>A (p.Asp607Asn)	CHD5 (D607N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704708	NM_015557.3(CHD5):c.1618C>T (p.Arg540Cys)	CHD5 (R540C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707815	NM_015557.3(CHD5):c.1564C>A (p.His522Asn)	CHD5 (H522N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308760	NM_015557.3(CHD5):c.1331A>T (p.Asn444Ile)	CHD5 (N444I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442540	NM_015557.3(CHD5):c.1327C>T (p.Leu443Phe)	CHD5 (L443F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800563	NM_015557.3(CHD5):c.1296C>G (p.Asp432Glu)	CHD5 (D432E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995775	NM_015557.3(CHD5):c.578G>A (p.Arg193Gln)	CHD5 (R193Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic

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Items: 42