DNMBP-AS1[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 57908	GRCh38/hg38 10q24.2(chr10:99716324-99999957)x3	ABCC2, COX15 +14 more	Copy number gain	See cases	GUncertain significance
Select item 3059416	NM_015221.4(DNMBP):c.2261-20475C>G	DNMBP, DNMBP-AS1 (S381R)	Single nucleotide variant (missense variant +1 more)	DNMBP-related disorder	GBenign
Select item 3041475	NM_015221.4(DNMBP):c.2261-20486G>A	DNMBP, DNMBP-AS1 (V378M)	Single nucleotide variant (missense variant +1 more)	DNMBP-related disorder	GBenign
Select item 3034379	NM_015221.4(DNMBP):c.2261-20487C>T	DNMBP, DNMBP-AS1	Single nucleotide variant (synonymous variant +1 more)	DNMBP-related disorder	GBenign
Select item 3039087	NM_015221.4(DNMBP):c.2261-20815A>G	DNMBP, DNMBP-AS1 (Y268C)	Single nucleotide variant (missense variant +1 more)	DNMBP-related disorder	GBenign
Select item 3040160	NM_015221.4(DNMBP):c.2261-21193G>A	DNMBP, DNMBP-AS1 (C142Y)	Single nucleotide variant (missense variant +1 more)	DNMBP-related disorder	GBenign
Select item 3042017	NM_015221.4(DNMBP):c.2261-21218G>A	DNMBP, DNMBP-AS1 (G134R)	Single nucleotide variant (missense variant +1 more)	DNMBP-related disorder	GBenign
Select item 2632105	NM_015221.4(DNMBP):c.2261-21460G>A	DNMBP, DNMBP-AS1 (W53*)	Single nucleotide variant (nonsense +1 more)	DNMBP-related disorder	GUncertain significance
Select item 3059290	NM_015221.4(DNMBP):c.2261-21476T>C	DNMBP, DNMBP-AS1	Single nucleotide variant (synonymous variant +1 more)	DNMBP-related disorder	GBenign
Select item 3059766	NM_015221.4(DNMBP):c.2261-21512C>T	DNMBP, DNMBP-AS1 (L36F)	Single nucleotide variant (missense variant +1 more)	DNMBP-related disorder	GBenign
Select item 2359218	NM_015221.4(DNMBP):c.2243A>G (p.Glu748Gly)	DNMBP, DNMBP-AS1 (E748G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084793	NM_015221.4(DNMBP):c.2222A>G (p.Asn741Ser)	DNMBP, DNMBP-AS1 (N741S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220407	NM_015221.4(DNMBP):c.2191A>G (p.Thr731Ala)	DNMBP, DNMBP-AS1 (T731A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549934	NM_015221.4(DNMBP):c.2189A>G (p.Glu730Gly)	DNMBP, DNMBP-AS1 (E730G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412060	NM_015221.4(DNMBP):c.2108G>A (p.Arg703Gln)	DNMBP, DNMBP-AS1 (R703Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470573	NM_015221.4(DNMBP):c.2041A>G (p.Met681Val)	DNMBP, DNMBP-AS1 (M681V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3084792	NM_015221.4(DNMBP):c.2000G>A (p.Arg667His)	DNMBP, DNMBP-AS1 (R667H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3034405	NM_015221.4(DNMBP):c.1982A>G (p.Lys661Arg)	DNMBP, DNMBP-AS1 (K661R)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GBenign
Select item 2205488	NM_015221.4(DNMBP):c.1978C>T (p.Pro660Ser)	DNMBP, DNMBP-AS1 (P660S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469754	NM_015221.4(DNMBP):c.1949C>T (p.Ser650Leu)	DNMBP, DNMBP-AS1 (S650L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519707	NM_015221.4(DNMBP):c.1928G>A (p.Arg643His)	DNMBP, DNMBP-AS1 (R643H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084790	NM_015221.4(DNMBP):c.1927C>T (p.Arg643Cys)	DNMBP, DNMBP-AS1 (R643C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623590	NM_015221.4(DNMBP):c.1883A>T (p.Asp628Val)	DNMBP, DNMBP-AS1 (D628V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617356	NM_015221.4(DNMBP):c.1874T>C (p.Leu625Ser)	DNMBP, DNMBP-AS1 (L625S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273233	NM_015221.4(DNMBP):c.1841G>A (p.Arg614His)	DNMBP, DNMBP-AS1 (R614H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084789	NM_015221.4(DNMBP):c.1817A>G (p.Lys606Arg)	DNMBP, DNMBP-AS1 (K606R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035793	NM_015221.4(DNMBP):c.1778C>T (p.Ser593Leu)	DNMBP, DNMBP-AS1 (S593L)	Single nucleotide variant (non-coding transcript variant +1 more)	DNMBP-related disorder	GLikely benign
Select item 2588901	NM_015221.4(DNMBP):c.1769G>A (p.Arg590Gln)	DNMBP, DNMBP-AS1 (R590Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3048812	NM_015221.4(DNMBP):c.1758G>A (p.Lys586=)	DNMBP, DNMBP-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DNMBP-related disorder	GLikely benign
Select item 2411599	NM_015221.4(DNMBP):c.1693G>A (p.Gly565Arg)	DNMBP, DNMBP-AS1 (G565R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2475106	NM_015221.4(DNMBP):c.1657A>C (p.Thr553Pro)	DNMBP, DNMBP-AS1 (T553P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3046112	NM_015221.4(DNMBP):c.1641C>T (p.Asp547=)	DNMBP, DNMBP-AS1	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GLikely benign
Select item 3035827	NM_015221.4(DNMBP):c.1629C>T (p.Asp543=)	DNMBP, DNMBP-AS1	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 2589032	NM_015221.4(DNMBP):c.1535C>T (p.Ser512Phe)	DNMBP, DNMBP-AS1 (S512F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084787	NM_015221.4(DNMBP):c.1498C>T (p.His500Tyr)	DNMBP, DNMBP-AS1 (H500Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148840	NM_015221.4(DNMBP):c.1442del (p.Gly481fs)	DNMBP, DNMBP-AS1 (G481fs)	Deletion (frameshift variant)	Cataract 48	GLikely pathogenic
Select item 1255524	NM_015221.4(DNMBP):c.1332C>T (p.Pro444=)	DNMBP, DNMBP-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2597648	NM_015221.4(DNMBP):c.1318T>G (p.Ser440Ala)	DNMBP, DNMBP-AS1 (S440A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312973	NM_015221.4(DNMBP):c.1310A>G (p.His437Arg)	DNMBP, DNMBP-AS1 (H437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237617	NM_015221.4(DNMBP):c.1289A>G (p.Tyr430Cys)	DNMBP, DNMBP-AS1 (Y430C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400452	NM_015221.4(DNMBP):c.1268A>G (p.Asn423Ser)	DNMBP, DNMBP-AS1 (N423S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1699200	NM_015221.4(DNMBP):c.1232G>A (p.Gly411Asp)	DNMBP, DNMBP-AS1 (G411D)	Single nucleotide variant (missense variant)	Cataract 48	GUncertain significance
Select item 3084786	NM_015221.4(DNMBP):c.1220A>G (p.Glu407Gly)	DNMBP, DNMBP-AS1 (E407G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050521	NM_015221.4(DNMBP):c.1155G>A (p.Pro385=)	DNMBP, DNMBP-AS1	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GLikely benign
Select item 2457619	NM_015221.4(DNMBP):c.1154C>G (p.Pro385Arg)	DNMBP, DNMBP-AS1 (P385R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2295389	NM_015221.4(DNMBP):c.1151C>A (p.Pro384His)	DNMBP, DNMBP-AS1 (P384H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354472	NM_015221.4(DNMBP):c.1132G>A (p.Glu378Lys)	DNMBP, DNMBP-AS1 (E378K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265203	NM_015221.4(DNMBP):c.1119C>G (p.Asn373Lys)	DNMBP-AS1, DNMBP (N373K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3273239	NM_015221.4(DNMBP):c.1113C>A (p.Asp371Glu)	DNMBP, DNMBP-AS1 (D371E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548181	NM_015221.4(DNMBP):c.1000G>T (p.Val334Leu)	DNMBP, DNMBP-AS1 (V334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590664	NM_015221.4(DNMBP):c.962C>T (p.Pro321Leu)	DNMBP, DNMBP-AS1 (P321L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3084811	NM_015221.4(DNMBP):c.961C>A (p.Pro321Thr)	DNMBP, DNMBP-AS1 (P321T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3273242	NM_015221.4(DNMBP):c.941A>C (p.Glu314Ala)	DNMBP, DNMBP-AS1 (E314A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2640755	NM_015221.4(DNMBP):c.822G>A (p.Ala274=)	DNMBP, DNMBP-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 626917	NM_015221.4(DNMBP):c.811C>T (p.Arg271Ter)	DNMBP, DNMBP-AS1 (R271*)	Single nucleotide variant (nonsense)	Cataract 48	GPathogenic
Select item 3054079	NM_015221.4(DNMBP):c.793G>A (p.Glu265Lys)	DNMBP, DNMBP-AS1 (E265K)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GLikely benign
Select item 3056139	NM_015221.4(DNMBP):c.747C>T (p.Val249=)	DNMBP, DNMBP-AS1	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 2492637	NM_015221.4(DNMBP):c.721G>A (p.Glu241Lys)	DNMBP, DNMBP-AS1 (E241K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354618	NM_015221.4(DNMBP):c.704T>G (p.Ile235Arg)	DNMBP, DNMBP-AS1 (I235R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549368	NM_015221.4(DNMBP):c.563A>C (p.Glu188Ala)	DNMBP, DNMBP-AS1 (E188A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3084804	NM_015221.4(DNMBP):c.401A>C (p.His134Pro)	DNMBP, DNMBP-AS1 (H134P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3084803	NM_015221.4(DNMBP):c.391C>T (p.Arg131Trp)	DNMBP, DNMBP-AS1 (R131W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2291386	NM_015221.4(DNMBP):c.338G>A (p.Arg113Gln)	DNMBP, DNMBP-AS1 (R113Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2522100	NM_015221.4(DNMBP):c.337C>T (p.Arg113Trp)	DNMBP, DNMBP-AS1 (R113W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2456842	NM_015221.4(DNMBP):c.334G>A (p.Ala112Thr)	DNMBP, DNMBP-AS1 (A112T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 69