ClinVar for Gene (Select 128866) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032000	NM_176812.5(CHMP4B):c.508G>T (p.Glu170Ter)	CHMP4B (E170*)	Single nucleotide variant (nonsense)	CHMP4B-related disorder	GUncertain significance
Select item 3029866	NM_176812.5(CHMP4B):c.610+9T>C	CHMP4B	Single nucleotide variant (intron variant)	CHMP4B-related disorder	GLikely benign
Select item 2985085	NM_176812.5(CHMP4B):c.310G>A (p.Glu104Lys)	CHMP4B (E104K)	Single nucleotide variant (missense variant)	Cataract 31 multiple types	GUncertain significance
Select item 2841293	NM_176812.5(CHMP4B):c.200A>G (p.Gln67Arg)	CHMP4B (Q67R)	Single nucleotide variant (missense variant)	Cataract 31 multiple types	GLikely pathogenic
Select item 2662226	NM_176812.5(CHMP4B):c.219G>T (p.Lys73Asn)	CHMP4B (K73N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2533326	NM_176812.5(CHMP4B):c.38G>A (p.Gly13Asp)	CHMP4B (G13D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472426	NM_176812.5(CHMP4B):c.458T>C (p.Val153Ala)	CHMP4B (V153A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249892	NM_176812.5(CHMP4B):c.439A>G (p.Thr147Ala)	CHMP4B (T147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2190916	NM_176812.5(CHMP4B):c.450G>A (p.Ser150=)	CHMP4B	Single nucleotide variant (synonymous variant)	Cataract 31 multiple types	GBenign
Select item 2188536	NM_176812.5(CHMP4B):c.270G>A (p.Glu90=)	CHMP4B	Single nucleotide variant (synonymous variant)	Cataract 31 multiple types	GBenign
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1686775	NM_176812.5(CHMP4B):c.610+81G>A	CHMP4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602809	NM_176812.5(CHMP4B):c.368+15G>A	CHMP4B	Single nucleotide variant (intron variant)	Cataract 31 multiple types	GLikely benign
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1473882	NM_176812.5(CHMP4B):c.481G>C (p.Glu161Gln)	CHMP4B (E161Q)	Single nucleotide variant (missense variant)	Cataract 31 multiple types	GUncertain significance
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1311838	NM_176812.5(CHMP4B):c.221G>T (p.Arg74Met)	CHMP4B (R74M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304620	NM_176812.5(CHMP4B):c.460G>A (p.Gly154Arg)	CHMP4B (G154R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287238	NM_176812.5(CHMP4B):c.190+226C>G	CHMP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272193	NM_176812.5(CHMP4B):c.610+51C>G	CHMP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265978	NM_176812.5(CHMP4B):c.610+159T>C	CHMP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249701	NM_176812.5(CHMP4B):c.610+52T>C	CHMP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240673	NM_176812.5(CHMP4B):c.-75C>G	CHMP4B, LOC112694706	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1226643	NM_176812.5(CHMP4B):c.610+44A>G	CHMP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214730	NM_176812.5(CHMP4B):c.484-139G>T	CHMP4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180415	NM_176812.5(CHMP4B):c.191-295C>T	CHMP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1105604	NM_176812.5(CHMP4B):c.240G>A (p.Ala80=)	CHMP4B	Single nucleotide variant (synonymous variant)	Cataract 31 multiple types	GLikely benign
Select item 836756	NM_176812.5(CHMP4B):c.586T>G (p.Ser196Ala)	CHMP4B (S196A)	Single nucleotide variant (missense variant)	Cataract 31 multiple types	GUncertain significance
Select item 816125	GRCh37/hg19 20q11.21-11.22(chr20:31966407-33169058)x3	PIGU, E2F1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 772436	NM_176812.5(CHMP4B):c.191-5C>T	CHMP4B	Single nucleotide variant (intron variant)	CHMP4B-related disorder +1 more	GBenign/Likely benign
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 584348	NC_000020.10:g.(?_31996293)_(33338342_?)del	ASIP, C20orf144 +17 more	Deletion	Long QT syndrome	GUncertain significance
Select item 583982	NC_000020.10:g.(?_31996293)_(33761838_?)del	MAP1LC3A, MIR499A +25 more	Deletion	Long QT syndrome	GUncertain significance
Select item 564635	GRCh37/hg19 20q11.22(chr20:32436483-33276757)x3	ITCH, AHCY +7 more	Copy number gain	not provided	GLikely benign
Select item 534366	NM_176812.5(CHMP4B):c.558C>T (p.Pro186=)	CHMP4B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 262917	NM_176812.5(CHMP4B):c.480C>T (p.Asp160=)	CHMP4B	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 262916	NM_176812.5(CHMP4B):c.*1T>C	CHMP4B	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 1086	NM_176812.5(CHMP4B):c.481G>A (p.Glu161Lys)	CHMP4B (E161K)	Single nucleotide variant (missense variant)	Cataract 31 multiple types	GPathogenic
Select item 1085	NM_176812.5(CHMP4B):c.386A>T (p.Asp129Val)	CHMP4B (D129V)	Single nucleotide variant (missense variant)	Cataract 31 multiple types	GPathogenic

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Links from Gene

Items: 47