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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2246888	NM_015221.4(DNMBP):c.4681G>C (p.Gly1561Arg)	DNMBP (G1193R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084809	NM_015221.4(DNMBP):c.4680C>A (p.Asn1560Lys)	DNMBP (N848K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282726	NM_015221.4(DNMBP):c.4638A>T (p.Lys1546Asn)	DNMBP (K1178N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332969	NM_015221.4(DNMBP):c.4588A>G (p.Asn1530Asp)	DNMBP (N1530D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246377	NM_015221.4(DNMBP):c.4538A>G (p.Glu1513Gly)	DNMBP (E1145G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084808	NM_015221.4(DNMBP):c.4468G>A (p.Val1490Ile)	DNMBP (V1490I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554830	NM_015221.4(DNMBP):c.4445G>A (p.Arg1482Gln)	DNMBP (R770Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410498	NM_015221.4(DNMBP):c.4435G>A (p.Val1479Ile)	DNMBP (V1111I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598872	NM_015221.4(DNMBP):c.4388C>T (p.Pro1463Leu)	DNMBP (P1095L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2616109	NM_015221.4(DNMBP):c.4358C>T (p.Ala1453Val)	DNMBP (A1085V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084807	NM_015221.4(DNMBP):c.4354G>C (p.Val1452Leu)	DNMBP (V1084L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050477	NM_015221.4(DNMBP):c.4301G>A (p.Cys1434Tyr)	DNMBP (C1066Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084806	NM_015221.4(DNMBP):c.4127G>A (p.Arg1376His)	DNMBP (R1008H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467193	NM_015221.4(DNMBP):c.4060G>A (p.Asp1354Asn)	DNMBP (D986N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084805	NM_015221.4(DNMBP):c.4058C>G (p.Ser1353Cys)	DNMBP (S1353C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225672	NM_015221.4(DNMBP):c.4045C>G (p.Arg1349Gly)	DNMBP (R637G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273236	NM_015221.4(DNMBP):c.4012G>A (p.Val1338Met)	DNMBP (V1338M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273234	NM_015221.4(DNMBP):c.3977G>A (p.Arg1326His)	DNMBP (R1326H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322135	NM_015221.4(DNMBP):c.3914C>T (p.Ser1305Leu)	DNMBP (S1305L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332058	NM_015221.4(DNMBP):c.3910G>A (p.Val1304Ile)	DNMBP (V1304I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459353	NM_015221.4(DNMBP):c.3890A>G (p.Asn1297Ser)	DNMBP (N929S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395404	NM_015221.4(DNMBP):c.3881G>A (p.Arg1294Gln)	DNMBP (R582Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399790	NM_015221.4(DNMBP):c.3880C>T (p.Arg1294Trp)	DNMBP (R1294W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591017	NM_015221.4(DNMBP):c.3830G>A (p.Arg1277Gln)	DNMBP (R1277Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608976	NM_015221.4(DNMBP):c.3829C>T (p.Arg1277Trp)	DNMBP (R565W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265735	NM_015221.4(DNMBP):c.3818C>T (p.Ser1273Leu)	DNMBP (S905L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050131	NM_015221.4(DNMBP):c.3815A>C (p.Gln1272Pro)	DNMBP (Q1272P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460585	NM_015221.4(DNMBP):c.3758C>G (p.Thr1253Ser)	DNMBP (T1253S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493810	NM_015221.4(DNMBP):c.3734C>T (p.Thr1245Ile)	DNMBP (T533I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363785	NM_015221.4(DNMBP):c.3714C>G (p.Phe1238Leu)	DNMBP (F526L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084801	NM_015221.4(DNMBP):c.3617C>T (p.Ser1206Leu)	DNMBP (S1206L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273238	NM_015221.4(DNMBP):c.3601T>G (p.Leu1201Val)	DNMBP (L1201V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513312	NM_015221.4(DNMBP):c.3543C>G (p.Asn1181Lys)	DNMBP (N469K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238848	NM_015221.4(DNMBP):c.3472G>A (p.Glu1158Lys)	DNMBP (E1158K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403615	NM_015221.4(DNMBP):c.3461G>A (p.Arg1154Gln)	DNMBP (R442Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514947	NM_015221.4(DNMBP):c.3453G>T (p.Gln1151His)	DNMBP (Q1151H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532140	NM_015221.4(DNMBP):c.3428A>T (p.Asp1143Val)	DNMBP (D431V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332141	NM_015221.4(DNMBP):c.3397A>G (p.Asn1133Asp)	DNMBP (N1133D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591527	NM_015221.4(DNMBP):c.3370C>T (p.Arg1124Cys)	DNMBP (R1124C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273241	NM_015221.4(DNMBP):c.3312C>G (p.Ile1104Met)	DNMBP (I1104M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473878	NM_015221.4(DNMBP):c.3301C>T (p.Arg1101Trp)	DNMBP (R733W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595124	NM_015221.4(DNMBP):c.3224G>A (p.Arg1075Gln)	DNMBP (R707Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084800	NM_015221.4(DNMBP):c.3223C>T (p.Arg1075Trp)	DNMBP (R707W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259520	NM_015221.4(DNMBP):c.3212A>G (p.Glu1071Gly)	DNMBP (E1071G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273235	NM_015221.4(DNMBP):c.3134C>G (p.Ser1045Cys)	DNMBP (S1045C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340842	NM_015221.4(DNMBP):c.3067T>G (p.Phe1023Val)	DNMBP (F1023V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273232	NM_015221.4(DNMBP):c.3005A>G (p.Asn1002Ser)	DNMBP (N1002S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327346	NM_015221.4(DNMBP):c.2957T>C (p.Met986Thr)	DNMBP (M274T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399561	NM_015221.4(DNMBP):c.2950A>T (p.Ser984Cys)	DNMBP (S272C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084798	NM_015221.4(DNMBP):c.2933G>A (p.Arg978His)	DNMBP (R266H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084797	NM_015221.4(DNMBP):c.2890A>G (p.Ile964Val)	DNMBP (I596V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084796	NM_015221.4(DNMBP):c.2842G>C (p.Val948Leu)	DNMBP (V580L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273240	NM_015221.4(DNMBP):c.2781G>T (p.Met927Ile)	DNMBP (M215I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382317	NM_015221.4(DNMBP):c.2723G>T (p.Gly908Val)	DNMBP (G908V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594583	NM_015221.4(DNMBP):c.2716G>A (p.Glu906Lys)	DNMBP (E538K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084795	NM_015221.4(DNMBP):c.2668C>G (p.Gln890Glu)	DNMBP (Q178E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556596	NM_015221.4(DNMBP):c.2594C>A (p.Thr865Lys)	DNMBP (T153K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227549	NM_015221.4(DNMBP):c.2497A>G (p.Met833Val)	DNMBP (M833V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084794	NM_015221.4(DNMBP):c.2438C>T (p.Pro813Leu)	DNMBP (P101L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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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