"DNMBP-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038451	NM_015221.4(DNMBP):c.*10G>C	DNMBP	Single nucleotide variant (3 prime UTR variant)	DNMBP-related disorder	GBenign
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 3038273	NM_015221.4(DNMBP):c.4725G>A (p.Glu1575=)	DNMBP	Single nucleotide variant (synonymous variant)	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 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 3060443	NM_015221.4(DNMBP):c.4434C>T (p.Ser1478=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder	GBenign
Select item 1255519	NM_015221.4(DNMBP):c.4320C>T (p.Ser1440=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder +1 more	GBenign
Select item 1255520	NM_015221.4(DNMBP):c.4239T>G (p.Cys1413Trp)	DNMBP (C1045W +2 more)	Single nucleotide variant (missense variant)	DNMBP-related disorder +1 more	GBenign
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 1255521	NM_015221.4(DNMBP):c.3744A>G (p.Pro1248=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder +1 more	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 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 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 1255522	NM_015221.4(DNMBP):c.3156+7A>G	DNMBP	Single nucleotide variant (intron variant)	DNMBP-related disorder +1 more	GBenign
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 1255523	NM_015221.4(DNMBP):c.2883C>T (p.Asn961=)	DNMBP	Single nucleotide variant (synonymous variant)	DNMBP-related disorder +1 more	GBenign
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 3038596	NM_015221.4(DNMBP):c.2583G>A (p.Glu861=)	DNMBP	Single nucleotide variant (synonymous 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 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 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 3043493	NM_015221.4(DNMBP):c.2261-4829A>G	DNMBP	Single nucleotide variant (synonymous variant +1 more)	DNMBP-related disorder	GLikely benign
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 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-AS1, DNMBP	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 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 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 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 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 1255524	NM_015221.4(DNMBP):c.1332C>T (p.Pro444=)	DNMBP, DNMBP-AS1	Single nucleotide variant (synonymous variant)	DNMBP-related disorder +1 more	GBenign
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 1265203	NM_015221.4(DNMBP):c.1119C>G (p.Asn373Lys)	DNMBP, DNMBP-AS1 (N373K)	Single nucleotide variant (missense variant)	DNMBP-related disorder +1 more	GBenign
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 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 3045208	NM_015221.4(DNMBP):c.243G>T (p.Glu81Asp)	DNMBP (E81D)	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

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Items: 47