DMBX1[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2217068	NM_172225.2(DMBX1):c.79G>T (p.Ala27Ser)	DMBX1 (A27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325589	NM_172225.2(DMBX1):c.155-10A>T	DMBX1 (T54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638799	NM_172225.2(DMBX1):c.234C>T (p.Leu78=)	DMBX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 183286	NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp)	DMBX1 (R123W +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GLikely pathogenic
Select item 3272370	NM_172225.2(DMBX1):c.375G>T (p.Gln125His)	DMBX1 (Q125H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061007	NM_172225.2(DMBX1):c.444C>T (p.Ala148=)	DMBX1	Single nucleotide variant (synonymous variant)	DMBX1-related disorder	GBenign
Select item 3083073	NM_172225.2(DMBX1):c.451C>G (p.Pro151Ala)	DMBX1 (P151A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597143	NM_172225.2(DMBX1):c.488C>T (p.Pro163Leu)	DMBX1 (P163L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052275	NM_172225.2(DMBX1):c.555G>A (p.Glu185=)	DMBX1	Single nucleotide variant (synonymous variant)	DMBX1-related disorder	GLikely benign
Select item 2467479	NM_172225.2(DMBX1):c.575C>T (p.Pro192Leu)	DMBX1 (P197L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511929	NM_172225.2(DMBX1):c.580C>T (p.Arg194Cys)	DMBX1 (R194C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287713	NM_172225.2(DMBX1):c.580C>G (p.Arg194Gly)	DMBX1 (R194G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037813	NM_172225.2(DMBX1):c.598G>C (p.Ala200Pro)	DMBX1 (A200P +1 more)	Single nucleotide variant (missense variant)	DMBX1-related disorder	GBenign
Select item 2382288	NM_172225.2(DMBX1):c.628A>T (p.Ser210Cys)	DMBX1 (S210C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386017	NM_172225.2(DMBX1):c.743C>T (p.Ser248Phe)	DMBX1 (S253F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359754	NM_172225.2(DMBX1):c.815C>A (p.Thr272Asn)	DMBX1 (T272N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034832	NM_172225.2(DMBX1):c.837G>A (p.Ser279=)	DMBX1	Single nucleotide variant (synonymous variant)	DMBX1-related disorder	GLikely benign
Select item 2542502	NM_172225.2(DMBX1):c.851G>A (p.Gly284Glu)	DMBX1 (G284E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270582	NM_172225.2(DMBX1):c.853G>T (p.Gly285Cys)	DMBX1 (G285C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049412	NM_172225.2(DMBX1):c.854G>C (p.Gly285Ala)	DMBX1 (G285A +1 more)	Single nucleotide variant (missense variant)	DMBX1-related disorder	GLikely benign
Select item 2272150	NM_172225.2(DMBX1):c.871G>A (p.Ala291Thr)	DMBX1 (A291T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366643	NM_172225.2(DMBX1):c.883G>A (p.Ala295Thr)	DMBX1 (A300T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264380	NM_172225.2(DMBX1):c.917C>T (p.Pro306Leu)	DMBX1 (P311L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048870	NM_172225.2(DMBX1):c.1003C>T (p.Leu335=)	DMBX1	Single nucleotide variant (synonymous variant)	DMBX1-related disorder	GLikely benign
Select item 3054840	NM_172225.2(DMBX1):c.1007C>G (p.Pro336Arg)	DMBX1 (P336R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244691	NM_172225.2(DMBX1):c.1084C>T (p.Arg362Trp)	DMBX1 (R362W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250533	NM_172225.2(DMBX1):c.1106C>T (p.Ser369Phe)	DMBX1 (S369F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083071	NM_172225.2(DMBX1):c.1111G>A (p.Gly371Arg)	DMBX1 (G371R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083072	NM_172225.2(DMBX1):c.1121C>T (p.Thr374Met)	DMBX1 (T374M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 816515	GRCh37/hg19 1p34.1-33(chr1:46768408-47174149)x3	UQCRH, DMBX1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 814073	GRCh37/hg19 1p33(chr1:46880370-47015073)x1	DMBX1, KNCN	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443026	GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)x3	DMBX1, FAAH +11 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395564	GRCh37/hg19 1p34.1-33(chr1:46747177-47280720)x3	ATPAF1, CYP4B1 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 39