"Baylor Genetics"[submitter] AND "MPDZ"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029764	NM_001378778.1(MPDZ):c.5648G>T (p.Ser1883Ile)	MPDZ (S1813I +7 more)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GUncertain significance
Select item 1029763	NM_001378778.1(MPDZ):c.5507C>G (p.Ser1836Cys)	MPDZ (S1774C +7 more)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GUncertain significance
Select item 1034033	NM_001378778.1(MPDZ):c.5425G>C (p.Gly1809Arg)	MPDZ (G1673R +4 more)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GUncertain significance
Select item 1029762	NM_001378778.1(MPDZ):c.5379G>A (p.Lys1793=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 2442078	NM_001378778.1(MPDZ):c.3985G>A (p.Glu1329Lys)	MPDZ (E1193K +3 more)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GUncertain significance
Select item 1374316	NM_001378778.1(MPDZ):c.3820_3821del (p.Leu1274fs)	MPDZ (L1274fs)	Microsatellite (frameshift variant +1 more)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GPathogenic/Likely pathogenic
Select item 1029761	NM_001378778.1(MPDZ):c.3360-2A>G	MPDZ	Single nucleotide variant (splice acceptor variant +1 more)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GPathogenic/Likely pathogenic
Select item 1029759	NM_001378778.1(MPDZ):c.3131G>A (p.Arg1044Gln)	MPDZ (R1044Q)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GUncertain significance
Select item 1029758	NM_001378778.1(MPDZ):c.3055G>A (p.Gly1019Arg)	MPDZ (G1019R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2582614	NM_001378778.1(MPDZ):c.2650G>C (p.Asp884His)	MPDZ (D884H)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GUncertain significance
Select item 1432143	NM_001378778.1(MPDZ):c.2606A>G (p.Asp869Gly)	MPDZ (D869G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1034031	NM_001378778.1(MPDZ):c.2264A>G (p.Asn755Ser)	MPDZ (N755S)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GUncertain significance
Select item 1029757	NM_001378778.1(MPDZ):c.2234T>C (p.Leu745Pro)	MPDZ (L745P)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GUncertain significance
Select item 211506	NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe)	MPDZ (L347F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1005147	NM_001378778.1(MPDZ):c.893G>C (p.Ser298Thr)	MPDZ (S298T)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +2 more	GUncertain significance
Select item 1923651	NM_001378778.1(MPDZ):c.425A>G (p.Lys142Arg)	MPDZ (K142R)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GUncertain significance
Select item 992337	NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)	MPDZ (G132S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 736778	NM_001378778.1(MPDZ):c.93C>G (p.Asp31Glu)	MPDZ (D31E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic