"Revvity Omics, Revvity"[submitter] AND "MPDZ"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433786	NM_001378778.1(MPDZ):c.5002G>C (p.Asp1668His)	MPDZ (D1532H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2433787	NM_001378778.1(MPDZ):c.4843T>C (p.Ser1615Pro)	MPDZ (S1479P +4 more)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GUncertain significance
Select item 667381	NM_001378778.1(MPDZ):c.4171C>T (p.Arg1391Ter)	MPDZ (R1391* +3 more)	Single nucleotide variant (nonsense)	Congenital hydrocephalus +2 more	GConflicting classifications of pathogenicity
Select item 1374316	NM_001378778.1(MPDZ):c.3820_3821del (p.Leu1274fs)	MPDZ (L1274fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2689440	NM_001378778.1(MPDZ):c.3800C>T (p.Thr1267Ile)	MPDZ (T1267I)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GUncertain significance
Select item 1572220	NM_001378778.1(MPDZ):c.3602C>G (p.Thr1201Ser)	MPDZ (T1135S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2433784	NM_001378778.1(MPDZ):c.3151G>C (p.Gly1051Arg)	MPDZ (G1051R)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GUncertain significance
Select item 2433789	NM_001378778.1(MPDZ):c.1997G>C (p.Gly666Ala)	MPDZ (G666A)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GUncertain significance
Select item 1045480	NM_001378778.1(MPDZ):c.1739C>G (p.Ser580Cys)	MPDZ (S580C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1068747	NM_001378778.1(MPDZ):c.1338_1341dup (p.Leu448fs)	MPDZ (L448fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2689439	NM_001378778.1(MPDZ):c.1294G>T (p.Asp432Tyr)	MPDZ (D432Y)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GUncertain significance
Select item 2433785	NM_001378778.1(MPDZ):c.821G>A (p.Gly274Glu)	MPDZ (G274E)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GUncertain significance
Select item 1323286	NM_001378778.1(MPDZ):c.414del (p.Phe138fs)	MPDZ (F138fs)	Deletion (frameshift variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GPathogenic
Select item 992337	NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)	MPDZ (G132S)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +2 more	GConflicting classifications of pathogenicity