"PreventionGenetics, part of Exact Sciences"[submitter] AND "MPDZ"[gen - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3030411	NM_001378778.1(MPDZ):c.6147C>A (p.Thr2049=)	MPDZ	Single nucleotide variant (synonymous variant)	MPDZ-related disorder	GLikely benign
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 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 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 1668945	NM_001378778.1(MPDZ):c.6067-4G>T	MPDZ	Single nucleotide variant (intron variant)	MPDZ-related disorder +1 more	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 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 1568453	NM_001378778.1(MPDZ):c.5982A>G (p.Pro1994=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 737156	NM_001378778.1(MPDZ):c.5730G>C (p.Gly1910=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1426362	NM_001378778.1(MPDZ):c.5725-3C>T	MPDZ	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 730900	NM_001378778.1(MPDZ):c.5724+8G>A	MPDZ	Single nucleotide variant (intron variant)	MPDZ-related disorder +1 more	GBenign/Likely benign
Select item 1665998	NM_001378778.1(MPDZ):c.5589C>T (p.Val1863=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2631824	NM_001378778.1(MPDZ):c.5018C>T (p.Ala1673Val)	MPDZ (A1537V +4 more)	Single nucleotide variant (missense variant)	MPDZ-related disorder	GUncertain significance
Select item 1413749	NM_001378778.1(MPDZ):c.4949T>A (p.Leu1650Gln)	MPDZ (L1650Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 735050	NM_001378778.1(MPDZ):c.4497A>G (p.Glu1499=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 777188	NM_001378778.1(MPDZ):c.4220A>G (p.Tyr1407Cys)	MPDZ (Y1407C +3 more)	Single nucleotide variant (missense variant)	MPDZ-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1520128	NM_001378778.1(MPDZ):c.4066G>T (p.Gly1356Cys)	MPDZ (G1286C +3 more)	Single nucleotide variant (missense variant)	MPDZ-related disorder +2 more	GUncertain significance
Select item 789197	NM_001378778.1(MPDZ):c.3919G>A (p.Glu1307Lys)	MPDZ (E1307K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1106622	NM_001378778.1(MPDZ):c.3900C>A (p.Pro1300=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 746146	NM_001378778.1(MPDZ):c.3896C>G (p.Pro1299Arg)	MPDZ (P1163R +3 more)	Single nucleotide variant (missense variant)	MPDZ-related disorder +1 more	GBenign/Likely benign
Select item 211513	NM_001378778.1(MPDZ):c.3893C>T (p.Pro1298Leu)	MPDZ (P1298L +3 more)	Single nucleotide variant (missense variant)	MPDZ-related disorder +2 more	GBenign
Select item 1153719	NM_001378778.1(MPDZ):c.3879A>G (p.Pro1293=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 376860	NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg)	MPDZ (S1194R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 740408	NM_001378778.1(MPDZ):c.3407G>A (p.Ser1136Asn)	MPDZ (S1136N)	Single nucleotide variant (missense variant +1 more)	MPDZ-related disorder +1 more	GBenign
Select item 1606450	NM_001378778.1(MPDZ):c.3390G>A (p.Glu1130=)	MPDZ	Single nucleotide variant (synonymous variant +1 more)	MPDZ-related disorder +1 more	GLikely benign
Select item 1519376	NM_001378778.1(MPDZ):c.3359+1G>A	MPDZ	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1566249	NM_001378778.1(MPDZ):c.3264T>C (p.Tyr1088=)	MPDZ	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2181390	NM_001378778.1(MPDZ):c.3100C>T (p.Arg1034Ter)	MPDZ (R1034*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 211512	NM_001378778.1(MPDZ):c.2914C>T (p.Pro972Ser)	MPDZ (P972S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 929452	NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs)	MPDZ (S963fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 787623	NM_001378778.1(MPDZ):c.2818A>G (p.Ile940Val)	MPDZ (I940V)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1625652	NM_001378778.1(MPDZ):c.2709A>G (p.Leu903=)	MPDZ	Single nucleotide variant (synonymous variant)	MPDZ-related disorder +1 more	GLikely benign
Select item 1585174	NM_001378778.1(MPDZ):c.2613G>A (p.Leu871=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 211510	NM_001378778.1(MPDZ):c.2580A>G (p.Leu860=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 723389	NM_001378778.1(MPDZ):c.2518A>G (p.Thr840Ala)	MPDZ (T840A)	Single nucleotide variant (missense variant)	MPDZ-related disorder +1 more	GBenign/Likely benign
Select item 727615	NM_001378778.1(MPDZ):c.2429G>C (p.Cys810Ser)	MPDZ (C810S)	Single nucleotide variant (missense variant)	MPDZ-related disorder +2 more	GBenign/Likely benign
Select item 773227	NM_001378778.1(MPDZ):c.2395A>G (p.Lys799Glu)	MPDZ (K799E)	Single nucleotide variant (missense variant)	MPDZ-related disorder +3 more	GLikely benign
Select item 712380	NM_001378778.1(MPDZ):c.2325G>A (p.Pro775=)	MPDZ	Single nucleotide variant (synonymous variant)	MPDZ-related disorder +1 more	GBenign/Likely benign
Select item 719238	NM_001378778.1(MPDZ):c.2194T>A (p.Ser732Thr)	MPDZ (S732T)	Single nucleotide variant (missense variant)	MPDZ-related disorder +2 more	GLikely benign
Select item 2970493	NM_001378778.1(MPDZ):c.2187A>C (p.Ile729=)	MPDZ	Single nucleotide variant (synonymous variant)	MPDZ-related disorder +1 more	GLikely benign
Select item 2631887	NM_001378778.1(MPDZ):c.2033C>G (p.Thr678Ser)	MPDZ (T678S)	Single nucleotide variant (missense variant)	MPDZ-related disorder	GUncertain significance
Select item 770579	NM_001378778.1(MPDZ):c.2032A>T (p.Thr678Ser)	MPDZ (T678S)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 445626	NM_001378778.1(MPDZ):c.1990T>C (p.Phe664Leu)	MPDZ (F664L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 726247	NM_001378778.1(MPDZ):c.1975G>A (p.Val659Ile)	MPDZ (V659I)	Single nucleotide variant (missense variant)	MPDZ-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2713027	NM_001378778.1(MPDZ):c.1974C>T (p.His658=)	MPDZ	Single nucleotide variant (synonymous variant)	MPDZ-related disorder +1 more	GLikely benign
Select item 1428231	NM_001378778.1(MPDZ):c.1897C>T (p.Arg633Ter)	MPDZ (R633*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3051582	NM_001378778.1(MPDZ):c.1547-4T>C	MPDZ	Single nucleotide variant (intron variant)	MPDZ-related disorder	GLikely benign
Select item 1546895	NM_001378778.1(MPDZ):c.1474+10T>G	MPDZ	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 790062	NM_001378778.1(MPDZ):c.1301C>G (p.Thr434Arg)	MPDZ (T434R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3034034	NM_001378778.1(MPDZ):c.1291-11_1291-9del	MPDZ	Deletion (intron variant)	MPDZ-related disorder	GLikely benign
Select item 211507	NM_001378778.1(MPDZ):c.1197A>G (p.Lys399=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 709817	NM_001378778.1(MPDZ):c.1164A>T (p.Gly388=)	MPDZ	Single nucleotide variant (synonymous variant)	MPDZ-related disorder +1 more	GBenign
Select item 1910306	NM_001378778.1(MPDZ):c.997A>C (p.Ile333Leu)	MPDZ (I333L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 709818	NM_001378778.1(MPDZ):c.814A>G (p.Ile272Val)	MPDZ (I272V)	Single nucleotide variant (missense variant)	MPDZ-related disorder +1 more	GBenign
Select item 788299	NM_001378778.1(MPDZ):c.658A>C (p.Ile220Leu)	MPDZ (I220L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 709854	NM_001378778.1(MPDZ):c.594G>A (p.Gln198=)	MPDZ	Single nucleotide variant (synonymous variant)	MPDZ-related disorder +1 more	GBenign
Select item 1397365	NM_001378778.1(MPDZ):c.534-3T>C	MPDZ	Single nucleotide variant (intron variant)	MPDZ-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 709855	NM_001378778.1(MPDZ):c.529C>T (p.His177Tyr)	MPDZ (H177Y)	Single nucleotide variant (missense variant)	MPDZ-related disorder +1 more	GBenign
Select item 1665801	NM_001378778.1(MPDZ):c.356G>C (p.Cys119Ser)	MPDZ (C119S)	Single nucleotide variant (missense variant)	MPDZ-related disorder +1 more	GLikely benign
Select item 709856	NM_001378778.1(MPDZ):c.278T>G (p.Phe93Cys)	MPDZ (F93C)	Single nucleotide variant (missense variant)	MPDZ-related disorder +1 more	GBenign
Select item 1641729	NM_001378778.1(MPDZ):c.180C>T (p.Asp60=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1541817	NM_001378778.1(MPDZ):c.174G>T (p.Leu58=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 782856	NM_001378778.1(MPDZ):c.145C>T (p.Leu49=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1595249	NM_001378778.1(MPDZ):c.75G>C (p.Gly25=)	MPDZ	Single nucleotide variant (synonymous variant)	MPDZ-related disorder +1 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 66