ClinVar for Gene (Select 23268) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273243	NM_015221.4(DNMBP):c.242A>G (p.Glu81Gly)	DNMBP (E81G)	Single nucleotide variant (missense variant)	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 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 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 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 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 3273237	NM_015221.4(DNMBP):c.223T>C (p.Cys75Arg)	DNMBP (C75R)	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 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 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 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 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 3148840	NM_015221.4(DNMBP):c.1442del (p.Gly481fs)	DNMBP, DNMBP-AS1 (G481fs)	Deletion (frameshift variant)	Cataract 48	GLikely pathogenic
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 3084810	NM_015221.4(DNMBP):c.46A>G (p.Ser16Gly)	DNMBP (S16G)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3084785	NM_015221.4(DNMBP):c.101T>C (p.Val34Ala)	DNMBP (V34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3060443	NM_015221.4(DNMBP):c.4434C>T (p.Ser1478=)	DNMBP	Single nucleotide variant (synonymous variant)	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 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 3059290	NM_015221.4(DNMBP):c.2261-21476T>C	DNMBP-AS1, DNMBP	Single nucleotide variant (synonymous variant +1 more)	DNMBP-related disorder	GBenign
Select item 3059198	NM_015221.4(DNMBP):c.3708C>T (p.Thr1236=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 3056379	NM_015221.4(DNMBP):c.3318C>T (p.Pro1106=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
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 3055504	NM_015221.4(DNMBP):c.2514G>A (p.Ser838=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 3055250	NM_015221.4(DNMBP):c.2492T>C (p.Met831Thr)	DNMBP (M119T +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GBenign
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 3053441	NM_015221.4(DNMBP):c.2459C>T (p.Pro820Leu)	DNMBP (P108L +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GBenign
Select item 3052955	NM_015221.4(DNMBP):c.2554+8C>T	DNMBP	Single nucleotide variant (intron variant)	DNMBP-related disorder	GLikely benign
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 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 3048708	NM_015221.4(DNMBP):c.*6C>T	DNMBP	Single nucleotide variant (3 prime UTR variant)	DNMBP-related disorder	GLikely benign
Select item 3046632	NM_015221.4(DNMBP):c.3027G>A (p.Lys1009=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GLikely benign
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 3045208	NM_015221.4(DNMBP):c.243G>T (p.Glu81Asp)	DNMBP (E81D)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GBenign
Select item 3045147	NM_015221.4(DNMBP):c.3209T>C (p.Met1070Thr)	DNMBP (M1070T +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GLikely benign
Select item 3044155	NM_015221.4(DNMBP):c.4101C>T (p.His1367=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GLikely benign
Select item 3043493	NM_015221.4(DNMBP):c.2261-4829A>G	DNMBP	Single nucleotide variant (synonymous variant +1 more)	DNMBP-related disorder	GLikely benign
Select item 3043207	NM_015221.4(DNMBP):c.4448A>G (p.Asn1483Ser)	DNMBP (N1115S +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GLikely benign
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 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 3041328	NM_015221.4(DNMBP):c.3302G>A (p.Arg1101Gln)	DNMBP (R1101Q +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GBenign
Select item 3040756	NM_015221.4(DNMBP):c.18G>T (p.Val6=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GLikely benign
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 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 3038596	NM_015221.4(DNMBP):c.2583G>A (p.Glu861=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 3038451	NM_015221.4(DNMBP):c.*10G>C	DNMBP	Single nucleotide variant (3 prime UTR variant)	DNMBP-related disorder	GBenign
Select item 3038273	NM_015221.4(DNMBP):c.4725G>A (p.Glu1575=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 3037742	NM_015221.4(DNMBP):c.2261-4933dup	DNMBP	Duplication (5 prime UTR variant +1 more)	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 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 3034579	NM_015221.4(DNMBP):c.2742C>G (p.Asn914Lys)	DNMBP (N202K +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder	GBenign
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 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 3033669	NM_015221.4(DNMBP):c.4500G>A (p.Pro1500=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 2640756	NM_015221.4(DNMBP):c.83T>C (p.Ile28Thr)	DNMBP (I28T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2640755	NM_015221.4(DNMBP):c.822G>A (p.Ala274=)	DNMBP, DNMBP-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2640754	NM_015221.4(DNMBP):c.3814C>T (p.Gln1272Ter)	DNMBP (Q1272* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 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 2622910	NM_015221.4(DNMBP):c.259C>A (p.Leu87Ile)	DNMBP (L87I)	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 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 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 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 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 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 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 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 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 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 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 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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 2555816	NM_015221.4(DNMBP):c.179C>T (p.Thr60Ile)	DNMBP (T60I)	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 2549934	NM_015221.4(DNMBP):c.2189A>G (p.Glu730Gly)	DNMBP, DNMBP-AS1 (E730G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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