"Ambry Genetics"[submitter] AND "CHD1"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2275867	NM_001270.4(CHD1):c.5122C>T (p.Arg1708Trp)	CHD1 (R1796W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2529683	NM_001270.4(CHD1):c.5105A>G (p.Glu1702Gly)	CHD1 (E1702G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481548	NM_001270.4(CHD1):c.5051C>T (p.Pro1684Leu)	CHD1 (P1772L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236070	NM_001270.4(CHD1):c.5042A>G (p.Gln1681Arg)	CHD1 (Q1681R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306987	NM_001270.4(CHD1):c.5026A>G (p.Arg1676Gly)	CHD1 (R1676G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144084	NM_001270.4(CHD1):c.4958A>G (p.Lys1653Arg)	CHD1 (K1741R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554493	NM_001270.4(CHD1):c.4931G>A (p.Arg1644Gln)	CHD1 (R1732Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264259	NM_001270.4(CHD1):c.4913G>A (p.Arg1638Gln)	CHD1 (R1726Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409802	NM_001270.4(CHD1):c.4679G>A (p.Arg1560Gln)	CHD1 (R1648Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3266825	NM_001270.4(CHD1):c.4656G>T (p.Gln1552His)	CHD1 (Q1640H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228895	NM_001270.4(CHD1):c.4641T>A (p.Asp1547Glu)	CHD1 (D1635E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205191	NM_001270.4(CHD1):c.4609G>A (p.Asp1537Asn)	CHD1 (D1625N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394573	NM_001270.4(CHD1):c.4579G>A (p.Val1527Met)	CHD1 (V1527M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602223	NM_001270.4(CHD1):c.4465G>A (p.Asp1489Asn)	CHD1 (D1489N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372196	NM_001270.4(CHD1):c.4399A>G (p.Asn1467Asp)	CHD1 (N1467D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487593	NM_001270.4(CHD1):c.4370A>G (p.His1457Arg)	CHD1 (H1457R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144083	NM_001270.4(CHD1):c.4224G>C (p.Glu1408Asp)	CHD1 (E1496D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144082	NM_001270.4(CHD1):c.4177A>G (p.Ile1393Val)	CHD1 (I1481V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266826	NM_001270.4(CHD1):c.4070C>G (p.Pro1357Arg)	CHD1 (P1357R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533528	NM_001270.4(CHD1):c.3917C>G (p.Ala1306Gly)	CHD1 (A1306G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144081	NM_001270.4(CHD1):c.3739G>A (p.Ala1247Thr)	CHD1 (A1247T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285538	NM_001270.4(CHD1):c.3544G>T (p.Asp1182Tyr)	CHD1 (D1182Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364994	NM_001270.4(CHD1):c.3365A>G (p.Asn1122Ser)	CHD1 (N1122S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144080	NM_001270.4(CHD1):c.3132G>C (p.Glu1044Asp)	CHD1 (E1044D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527550	NM_001270.4(CHD1):c.2882A>G (p.Asn961Ser)	CHD1 (N961S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144079	NM_001270.4(CHD1):c.2851G>C (p.Gly951Arg)	CHD1 (G951R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493449	NM_001270.4(CHD1):c.2452G>C (p.Asp818His)	CHD1 (D818H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493068	NM_001270.4(CHD1):c.2321A>G (p.Tyr774Cys)	CHD1 (Y774C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367430	NM_001270.4(CHD1):c.1814G>A (p.Gly605Asp)	CHD1 (G605D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144078	NM_001270.4(CHD1):c.1748G>A (p.Arg583Gln)	CHD1 (R583Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596935	NM_001270.4(CHD1):c.1574A>G (p.His525Arg)	CHD1 (H525R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266824	NM_001270.4(CHD1):c.1322T>A (p.Phe441Tyr)	CHD1 (F441Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655618	NM_001270.4(CHD1):c.673T>C (p.Tyr225His)	CHD1 (Y225H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2597861	NM_001270.4(CHD1):c.657T>G (p.Asp219Glu)	CHD1 (D219E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2283743	NM_001270.4(CHD1):c.647C>G (p.Ser216Cys)	CHD1 (S216C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283742	NM_001270.4(CHD1):c.646T>A (p.Ser216Thr)	CHD1 (S216T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249779	NM_001270.4(CHD1):c.547G>A (p.Glu183Lys)	CHD1 (E183K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623373	NM_001270.4(CHD1):c.533C>T (p.Thr178Ile)	CHD1 (T178I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275387	NM_001270.4(CHD1):c.503A>G (p.Glu168Gly)	CHD1 (E168G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538316	NM_001270.4(CHD1):c.482G>A (p.Gly161Asp)	CHD1 (G161D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568460	NM_001270.4(CHD1):c.473C>T (p.Ser158Phe)	CHD1 (S158F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334237	NM_001270.4(CHD1):c.404C>T (p.Ser135Leu)	CHD1 (S135L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556339	NM_001270.4(CHD1):c.401A>G (p.Asp134Gly)	CHD1 (D134G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471212	NM_001270.4(CHD1):c.361G>A (p.Gly121Arg)	CHD1 (G121R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327901	NM_001270.4(CHD1):c.263A>T (p.Lys88Ile)	CHD1 (K88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 45