ClinVar for MedGen (Select 767605) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064098	NM_001378778.1(MPDZ):c.1690G>T (p.Gly564Ter)	MPDZ (G564*)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GLikely pathogenic
Select item 2691339	NC_000009.11:g.(13133904_13136090)_(13136182_13136710)del	MPDZ	Deletion	Hydrocephalus, nonsyndromic, autosomal recessive 2	GPathogenic
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 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 2664210	NM_001378778.1(MPDZ):c.2649+1G>A	MPDZ	Single nucleotide variant (splice donor variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GLikely pathogenic
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 2573101	NM_001378778.1(MPDZ):c.6103G>T (p.Asp2035Tyr)	MPDZ (D1899Y +7 more)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	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 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 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 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 2433785	NM_001378778.1(MPDZ):c.821G>A (p.Gly274Glu)	MPDZ (G274E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 1709356	NM_001378778.1(MPDZ):c.4702C>T (p.Gln1568Ter)	MPDZ (Q1432* +4 more)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GLikely pathogenic
Select item 1709355	NM_001378778.1(MPDZ):c.4222G>A (p.Gly1408Arg)	MPDZ (G1272R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1703123	NM_001378778.1(MPDZ):c.409_410delinsC (p.Val137fs)	MPDZ (V137fs)	Indel (frameshift variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GLikely pathogenic
Select item 1703122	NM_001378778.1(MPDZ):c.1445T>A (p.Leu482Ter)	MPDZ (L482*)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GLikely pathogenic
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 1519860	NM_001378778.1(MPDZ):c.3263A>G (p.Tyr1088Cys)	MPDZ (Y1088C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 1359728	NM_001378778.1(MPDZ):c.367G>A (p.Asp123Asn)	MPDZ (D123N)	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 1321175	NM_001378778.1(MPDZ):c.1804-26G>C	MPDZ	Single nucleotide variant (intron variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GBenign
Select item 1204727	NM_001378778.1(MPDZ):c.1735C>T (p.Arg579Ter)	MPDZ (R579*)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GPathogenic
Select item 1177484	NM_001378778.1(MPDZ):c.6115G>A (p.Ala2039Thr)	MPDZ (A1903T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177483	NM_001378778.1(MPDZ):c.4768G>A (p.Val1590Ile)	MPDZ (V1454I +4 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 1034031	NM_001378778.1(MPDZ):c.2264A>G (p.Asn755Ser)	MPDZ (N755S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1029762	NM_001378778.1(MPDZ):c.5379G>A (p.Lys1793=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1029761	NM_001378778.1(MPDZ):c.3360-2A>G	MPDZ	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1029759	NM_001378778.1(MPDZ):c.3131G>A (p.Arg1044Gln)	MPDZ (R1044Q)	Single nucleotide variant (missense variant)	not provided +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 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 1027378	NM_001378778.1(MPDZ):c.5125_5126insGTAT (p.Tyr1709fs)	MPDZ (Y1573fs +4 more)	Insertion (frameshift variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GPathogenic
Select item 1005147	NM_001378778.1(MPDZ):c.893G>C (p.Ser298Thr)	MPDZ (S298T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 993002	NM_001378778.1(MPDZ):c.1502dup (p.Leu501fs)	MPDZ (L501fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 992337	NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)	MPDZ (G132S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 982061	NM_001378778.1(MPDZ):c.5305G>T (p.Gly1769Ter)	MPDZ (G1633* +4 more)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GPathogenic
Select item 974829	NM_001378778.1(MPDZ):c.3253A>T (p.Lys1085Ter)	MPDZ (K1085*)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GLikely pathogenic
Select item 929453	NM_001378778.1(MPDZ):c.4003+1G>A	MPDZ	Single nucleotide variant (splice donor variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GPathogenic/Likely pathogenic
Select item 929452	NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs)	MPDZ (S963fs)	Duplication (frameshift variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +2 more	GPathogenic/Likely pathogenic
Select item 829930	NM_001378778.1(MPDZ):c.1972C>T (p.His658Tyr)	MPDZ (H658Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 829821	NM_001378778.1(MPDZ):c.6007_6013dup (p.Tyr2005fs)	MPDZ (Y1869fs +7 more)	Duplication (frameshift variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GLikely pathogenic
Select item 804414	NM_001378778.1(MPDZ):c.4003A>T (p.Lys1335Ter)	MPDZ (K1199* +3 more)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GPathogenic/Likely pathogenic
Select item 791296	NM_001378778.1(MPDZ):c.6176G>A (p.Arg2059Gln)	MPDZ (R2026Q +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 736778	NM_001378778.1(MPDZ):c.93C>G (p.Asp31Glu)	MPDZ (D31E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 726047	NM_001378778.1(MPDZ):c.2344G>A (p.Gly782Arg)	MPDZ (G782R)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GConflicting classifications of pathogenicity
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 638491	NM_001378778.1(MPDZ):c.5567A>C (p.Glu1856Ala)	MPDZ (E1827A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 638490	NM_001378778.1(MPDZ):c.3741+6C>T	MPDZ	Single nucleotide variant (intron variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GUncertain significance
Select item 548150	NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr)	MPDZ (A1760T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548149	NM_001378778.1(MPDZ):c.3211C>T (p.Arg1071Ter)	MPDZ (R1071*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 548148	NM_001378778.1(MPDZ):c.2230C>T (p.Arg744Ter)	MPDZ (R744*)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GPathogenic
Select item 548147	NM_001378778.1(MPDZ):c.4469del (p.Gln1490fs)	MPDZ (Q1490fs +4 more)	Deletion (frameshift variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GPathogenic
Select item 522684	NM_001378778.1(MPDZ):c.2401G>T (p.Asp801Tyr)	MPDZ (D801Y)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +1 more	GUncertain significance
Select item 211521	NM_001378778.1(MPDZ):c.755G>A (p.Trp252Ter)	MPDZ (W252*)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GPathogenic
Select item 211516	NM_001378778.1(MPDZ):c.4807+14A>G	MPDZ	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 211506	NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe)	MPDZ (L347F)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 2 +2 more	GConflicting classifications of pathogenicity
Select item 208595	NM_001378778.1(MPDZ):c.4906C>T (p.Arg1636Ter)	MPDZ (R1636* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203539	NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)	ACADM (I233T +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 158889	NM_001378778.1(MPDZ):c.1074A>G (p.Thr358=)	MPDZ	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 50213	NM_001378778.1(MPDZ):c.628C>T (p.Gln210Ter)	MPDZ (Q210*)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GPathogenic

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Items: 68