"Ambry Genetics"[submitter] AND "DNMBP-AS1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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-AS1, DNMBP (P321T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38