Related gene-specific medical variations for Gene (Select 1105) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068302	NM_001270.4(CHD1):c.4385T>A (p.Leu1462Gln)	CHD1 (L1462Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 3068151	NM_001270.4(CHD1):c.527A>G (p.Asp176Gly)	CHD1 (D176G)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 3068015	NM_001270.4(CHD1):c.3514G>T (p.Val1172Leu)	CHD1 (V1172L)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 3065580	NM_001270.4(CHD1):c.490del (p.Ser164fs)	CHD1 (S164fs)	Deletion (frameshift variant +1 more)	Pilarowski-Bjornsson syndrome	GLikely pathogenic
Select item 3064556	NM_001270.4(CHD1):c.656A>T (p.Asp219Val)	CHD1 (D219V)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2688768	NM_001270.4(CHD1):c.1165C>A (p.Gln389Lys)	CHD1 (Q389K)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2682572	NM_001270.4(CHD1):c.204T>C (p.Thr68=)	CHD1, LOC126807465	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2662716	NM_001270.4(CHD1):c.160T>G (p.Ser54Ala)	CHD1, LOC126807465 (S54A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2584679	NM_001270.4(CHD1):c.2979T>A (p.Asp993Glu)	CHD1 (D993E)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2582374	NM_001270.4(CHD1):c.2569-11A>G	CHD1	Single nucleotide variant (intron variant)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439963	NM_001270.4(CHD1):c.4646A>C (p.His1549Pro)	CHD1 (H1549P +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439962	NM_001270.4(CHD1):c.458G>A (p.Gly153Glu)	CHD1 (G153E)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439961	NM_001270.4(CHD1):c.4552A>C (p.Asn1518His)	CHD1 (N1518H +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439960	NM_001270.4(CHD1):c.4753C>T (p.His1585Tyr)	CHD1 (H1585Y +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439959	NM_001270.4(CHD1):c.788T>C (p.Val263Ala)	CHD1 (V263A)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439958	NM_001270.4(CHD1):c.966G>A (p.Trp322Ter)	CHD1 (W322*)	Single nucleotide variant (nonsense +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439957	NM_001270.4(CHD1):c.1082G>T (p.Arg361Ile)	CHD1 (R361I)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439956	NM_001270.4(CHD1):c.362G>T (p.Gly121Val)	CHD1 (G121V)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439955	NM_001270.4(CHD1):c.2336C>T (p.Ala779Val)	CHD1 (A779V)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439953	NM_001270.4(CHD1):c.3941G>T (p.Ser1314Ile)	CHD1 (S1314I)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439952	NM_001270.4(CHD1):c.2434C>G (p.Gln812Glu)	CHD1 (Q812E)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439951	NM_001270.4(CHD1):c.607A>C (p.Lys203Gln)	CHD1 (K203Q)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439950	NM_001270.4(CHD1):c.1177C>T (p.Arg393Cys)	CHD1 (R393C)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439949	NM_001270.4(CHD1):c.2606T>C (p.Leu869Pro)	CHD1 (L869P)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1807855	GRCh37/hg19 5q15-21.1(chr5:98147041-98213308)x1	CHD1	Copy number loss	not provided	GUncertain significance
Select item 1800835	NM_001270.4(CHD1):c.101C>T (p.Ser34Leu)	CHD1, LOC126807465 (S34L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723367	NM_001270.4(CHD1):c.179G>A (p.Ser60Asn)	CHD1, LOC126807465 (S60N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711606	NM_001270.4(CHD1):c.208C>T (p.Arg70Ter)	CHD1, LOC126807465 (R70*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1679616	NM_001270.4(CHD1):c.4976G>C (p.Arg1659Thr)	CHD1 (R1659T +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1342472	NM_001270.4(CHD1):c.735_738delinsGGAT (p.Asp245_Glu246delinsGluAsp)	CHD1	Indel (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1341810	NM_001270.4(CHD1):c.3998A>G (p.Lys1333Arg)	CHD1 (K1333R)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1335588	NM_001270.4(CHD1):c.178A>G (p.Ser60Gly)	CHD1, LOC126807465 (S60G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1213798	NM_001270.4(CHD1):c.4850C>G (p.Ser1617Ter)	CHD1 (S1617* +1 more)	Single nucleotide variant (nonsense +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1033800	NM_001270.4(CHD1):c.242T>C (p.Val81Ala)	CHD1, LOC126807465 (V81A)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1027854	NM_001270.4(CHD1):c.205T>C (p.Ser69Pro)	CHD1, LOC126807465 (S69P)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 996964	NM_001270.4(CHD1):c.3337G>A (p.Gly1113Arg)	CHD1 (G1113R)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 983386	NM_001270.4(CHD1):c.3113G>T (p.Arg1038Ile)	CHD1 (R1038I)	Single nucleotide variant (missense variant +1 more)	Autism +1 more	GUncertain significance
Select item 930735	NM_001270.4(CHD1):c.2848A>G (p.Thr950Ala)	CHD1 (T950A)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 814715	GRCh37/hg19 5q15-21.1(chr5:98135408-98246556)x1	CHD1	Copy number loss	not provided	GUncertain significance
Select item 686952	GRCh37/hg19 5q21.1(chr5:98238639-98327759)x3	CHD1	Copy number gain	not provided	GUncertain significance
Select item 202230	GRCh37/hg19 5q21.1(chr5:98241365-98339090)x3	CHD1	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 41