MPDZ[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1409443	NM_001378778.1(MPDZ):c.6205C>T (p.Leu2069Phe)	MPDZ (L1999F +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791296	NM_001378778.1(MPDZ):c.6176G>A (p.Arg2059Gln)	MPDZ (R2026Q +7 more)	Single nucleotide variant (missense variant)	MPDZ-related disorder +2 more	GBenign/Likely benign
Select item 1421942	NM_001378778.1(MPDZ):c.6175C>T (p.Arg2059Trp)	MPDZ (R1960W +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894351	NM_001378778.1(MPDZ):c.6166A>G (p.Ile2056Val)	MPDZ (I1920V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509711	NM_001378778.1(MPDZ):c.6164C>T (p.Ala2055Val)	MPDZ (A2055V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051730	NM_001378778.1(MPDZ):c.6162T>A (p.Val2054=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972954	NM_001378778.1(MPDZ):c.6158C>T (p.Ala2053Val)	MPDZ (A2024V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994008	NM_001378778.1(MPDZ):c.6155A>C (p.Glu2052Ala)	MPDZ (E1953A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367535	NM_001378778.1(MPDZ):c.6149A>G (p.His2050Arg)	MPDZ (H1914R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030411	NM_001378778.1(MPDZ):c.6147C>A (p.Thr2049=)	MPDZ	Single nucleotide variant (synonymous variant)	MPDZ-related disorder	GLikely benign
Select item 2230350	NM_001378778.1(MPDZ):c.6146C>T (p.Thr2049Ile)	MPDZ (T1913I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1389837	NM_001378778.1(MPDZ):c.6139G>A (p.Gly2047Arg)	MPDZ (G1911R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081011	NM_001378778.1(MPDZ):c.6131G>A (p.Ser2044Asn)	MPDZ (S1945N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936805	NM_001378778.1(MPDZ):c.6129G>A (p.Gln2043=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936122	NM_001378778.1(MPDZ):c.6127C>A (p.Gln2043Lys)	MPDZ (Q1907K +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363632	NM_001378778.1(MPDZ):c.6127C>T (p.Gln2043Ter)	MPDZ (Q1907* +7 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1937213	NM_001378778.1(MPDZ):c.6122A>T (p.Asn2041Ile)	MPDZ (N1971I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420540	NM_001378778.1(MPDZ):c.6122A>G (p.Asn2041Ser)	MPDZ (N1905S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1977867	NM_001378778.1(MPDZ):c.6112A>G (p.Ile2038Val)	MPDZ (I2005V +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2130656	NM_001378778.1(MPDZ):c.6107A>C (p.Gln2036Pro)	MPDZ (Q2003P +7 more)	Single nucleotide variant (missense variant)	not provided	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 2414269	NM_001378778.1(MPDZ):c.6103G>A (p.Asp2035Asn)	MPDZ (D1899N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738424	NM_001378778.1(MPDZ):c.6102C>T (p.Gly2034=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1973210	NM_001378778.1(MPDZ):c.6101G>A (p.Gly2034Asp)	MPDZ (G2005D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391788	NM_001378778.1(MPDZ):c.6098G>C (p.Arg2033Thr)	MPDZ (R1897T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 998455	NM_001378778.1(MPDZ):c.6094A>T (p.Lys2032Ter)	MPDZ (K1896* +7 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1354944	NM_001378778.1(MPDZ):c.6089G>A (p.Arg2030His)	MPDZ (R1894H +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 781920	NM_001378778.1(MPDZ):c.6085G>A (p.Gly2029Arg)	MPDZ (G1996R +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1383195	NM_001378778.1(MPDZ):c.6082G>A (p.Asp2028Asn)	MPDZ (D1995N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1595297	NM_001378778.1(MPDZ):c.6078T>G (p.Ser2026=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008531	NM_001378778.1(MPDZ):c.6075C>T (p.Ala2025=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1554054	NM_001378778.1(MPDZ):c.6072A>G (p.Ala2024=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1307908	NM_001378778.1(MPDZ):c.6067-1G>C	MPDZ	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1668945	NM_001378778.1(MPDZ):c.6067-4G>T	MPDZ	Single nucleotide variant (intron variant)	MPDZ-related disorder +1 more	GLikely benign
Select item 1653747	NM_001378778.1(MPDZ):c.6067-4G>A	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889436	NM_001378778.1(MPDZ):c.6067-5T>C	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2148783	NM_001378778.1(MPDZ):c.6067-10T>G	MPDZ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1170690	NM_001378778.1(MPDZ):c.6067-11A>G	MPDZ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1530961	NM_001378778.1(MPDZ):c.6067-18_6067-14del	MPDZ	Deletion (intron variant)	not provided	GLikely benign
Select item 1533672	NM_001378778.1(MPDZ):c.6067-16A>G	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530962	NM_001378778.1(MPDZ):c.6067-20G>T	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1078846	NM_001378778.1(MPDZ):c.6067-20G>A	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1114707	NM_001378778.1(MPDZ):c.6066+20C>A	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002592	NM_001378778.1(MPDZ):c.6066+16T>G	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975156	NM_001378778.1(MPDZ):c.6066+12A>G	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3030973	NM_001378778.1(MPDZ):c.6066+9G>A	MPDZ	Single nucleotide variant (intron variant)	MPDZ-related disorder	GLikely benign
Select item 2060788	NM_001378778.1(MPDZ):c.6066+8T>A	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793011	NM_001378778.1(MPDZ):c.6060T>C (p.Phe2020=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376510	NM_001378778.1(MPDZ):c.6055G>C (p.Val2019Leu)	MPDZ (V1986L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304061	NM_001378778.1(MPDZ):c.6053C>A (p.Thr2018Lys)	MPDZ (T1882K +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1925243	NM_001378778.1(MPDZ):c.6046G>A (p.Val2016Ile)	MPDZ (V2049I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1955981	NM_001378778.1(MPDZ):c.6040A>G (p.Ile2014Val)	MPDZ (I1952V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960909	NM_001378778.1(MPDZ):c.6029G>T (p.Gly2010Val)	MPDZ (G1940V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511677	NM_001378778.1(MPDZ):c.6017G>T (p.Gly2006Val)	MPDZ (G1870V +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1499836	NM_001378778.1(MPDZ):c.6017G>C (p.Gly2006Ala)	MPDZ (G1870A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083248	NM_001378778.1(MPDZ):c.6014A>G (p.Tyr2005Cys)	MPDZ (Y1976C +7 more)	Single nucleotide variant (missense variant)	not provided	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 2176404	NM_001378778.1(MPDZ):c.6012A>G (p.Gly2004=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1385013	NM_001378778.1(MPDZ):c.6006dup (p.Gly2003fs)	MPDZ (G1933fs +7 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2472301	NM_001378778.1(MPDZ):c.6001A>G (p.Ile2001Val)	MPDZ (I1865V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2080340	NM_001378778.1(MPDZ):c.5995T>G (p.Phe1999Val)	MPDZ (F1863V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909200	NM_001378778.1(MPDZ):c.5993del (p.Gly1998fs)	MPDZ (G1862fs +7 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2135721	NM_001378778.1(MPDZ):c.5987del (p.Gly1996fs)	MPDZ (G1996fs +7 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1568453	NM_001378778.1(MPDZ):c.5982A>G (p.Pro1994=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1478448	NM_001378778.1(MPDZ):c.5975G>A (p.Arg1992Gln)	MPDZ (R1959Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573009	NM_001378778.1(MPDZ):c.5970A>G (p.Leu1990=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539062	NM_001378778.1(MPDZ):c.5970A>T (p.Leu1990=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1416423	NM_001378778.1(MPDZ):c.5968C>G (p.Leu1990Val)	MPDZ (L1928V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1499581	NM_001378778.1(MPDZ):c.5966C>G (p.Thr1989Arg)	MPDZ (T1919R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494662	NM_001378778.1(MPDZ):c.5962A>G (p.Ile1988Val)	MPDZ (I1889V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445551	NM_001378778.1(MPDZ):c.5952A>C (p.Gln1984His)	MPDZ (Q1955H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1567183	NM_001378778.1(MPDZ):c.5943-4G>A	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1591941	NM_001378778.1(MPDZ):c.5943-5C>T	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870964	NM_001378778.1(MPDZ):c.5943-11C>T	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603952	NM_001378778.1(MPDZ):c.5942+9A>G	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956688	NM_001378778.1(MPDZ):c.5942+8C>T	MPDZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1395669	NM_001378778.1(MPDZ):c.5942+5G>A	MPDZ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2108318	NM_001378778.1(MPDZ):c.5942+3G>C	MPDZ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915951	NM_001378778.1(MPDZ):c.5941G>C (p.Gly1981Arg)	MPDZ (G1911R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471892	NM_001378778.1(MPDZ):c.5941G>A (p.Gly1981Arg)	MPDZ (G1952R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418011	NM_001378778.1(MPDZ):c.5931G>C (p.Gln1977His)	MPDZ (Q2010H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347609	NM_001378778.1(MPDZ):c.5930A>T (p.Gln1977Leu)	MPDZ (Q1944L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1438040	NM_001378778.1(MPDZ):c.5924T>C (p.Ile1975Thr)	MPDZ (I1905T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2956741	NM_001378778.1(MPDZ):c.5919C>T (p.Ser1973=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928775	NM_001378778.1(MPDZ):c.5913G>A (p.Thr1971=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1443416	NM_001378778.1(MPDZ):c.5912C>T (p.Thr1971Met)	MPDZ (T1872M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181534	NM_001378778.1(MPDZ):c.5893C>T (p.Leu1965Phe)	MPDZ (L1829F +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723388	NM_001378778.1(MPDZ):c.5893C>G (p.Leu1965Val)	MPDZ (L1866V +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2150366	NM_001378778.1(MPDZ):c.5891G>C (p.Ser1964Thr)	MPDZ (S1931T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386417	NM_001378778.1(MPDZ):c.5881G>A (p.Ala1961Thr)	MPDZ (A1891T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791000	NM_001378778.1(MPDZ):c.5877G>A (p.Glu1959=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1391174	NM_001378778.1(MPDZ):c.5875G>A (p.Glu1959Lys)	MPDZ (E1930K +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022930	NM_001378778.1(MPDZ):c.5868T>C (p.His1956=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181161	NM_001378778.1(MPDZ):c.5862A>G (p.Thr1954=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461973	NM_001378778.1(MPDZ):c.5848G>A (p.Val1950Met)	MPDZ (V1880M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1040878	NM_001378778.1(MPDZ):c.5840G>C (p.Gly1947Ala)	MPDZ (G1811A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912595	NM_001378778.1(MPDZ):c.5833G>A (p.Val1945Ile)	MPDZ (V1916I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533088	NM_001378778.1(MPDZ):c.5832G>C (p.Val1944=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3201587	NM_001378778.1(MPDZ):c.5831T>C (p.Val1944Ala)	MPDZ (V1911A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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