"GeneDx"[submitter] AND "MPDZ"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59101	GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1	ADAMTSL1, BNC2 +61 more	Copy number loss	See cases	GPathogenic
Select item 1307908	NM_001378778.1(MPDZ):c.6067-1G>C	MPDZ	Single nucleotide variant (splice acceptor 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 1438040	NM_001378778.1(MPDZ):c.5924T>C (p.Ile1975Thr)	MPDZ (I1905T +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1385862	NM_001378778.1(MPDZ):c.5828A>T (p.Gln1943Leu)	MPDZ (Q1881L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1304062	NM_001378778.1(MPDZ):c.5765A>C (p.Glu1922Ala)	MPDZ (E1786A +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1470704	NM_001378778.1(MPDZ):c.5759C>A (p.Ser1920Tyr)	MPDZ (S1858Y +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485048	NM_001378778.1(MPDZ):c.5648G>A (p.Ser1883Asn)	MPDZ (S1747N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462835	NM_001378778.1(MPDZ):c.5597A>T (p.Lys1866Ile)	MPDZ (K1767I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450462	NM_001378778.1(MPDZ):c.5342G>A (p.Arg1781His)	MPDZ (R1781H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1396174	NM_001378778.1(MPDZ):c.5341C>T (p.Arg1781Cys)	MPDZ (R1748C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699861	NM_001378778.1(MPDZ):c.5188A>C (p.Lys1730Gln)	MPDZ (K1594Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392243	NM_001378778.1(MPDZ):c.5032T>G (p.Leu1678Val)	MPDZ (L1678V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912358	NM_001378778.1(MPDZ):c.4946C>T (p.Thr1649Met)	MPDZ (T1513M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2500513	NM_001378778.1(MPDZ):c.4706C>A (p.Ala1569Asp)	MPDZ (A1433D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1401498	NM_001378778.1(MPDZ):c.4645C>G (p.Leu1549Val)	MPDZ (L1479V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211515	NM_001378778.1(MPDZ):c.4558-8C>A	MPDZ	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1704991	NM_001378778.1(MPDZ):c.4519A>G (p.Ile1507Val)	MPDZ (I1371V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548147	NM_001378778.1(MPDZ):c.4469del (p.Gln1490fs)	MPDZ (Q1490fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 749025	NM_001378778.1(MPDZ):c.4421A>T (p.Asp1474Val)	MPDZ (D1338V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 432041	NM_001378778.1(MPDZ):c.4175T>A (p.Leu1392Ter)	MPDZ (L1392* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 1447738	NM_001378778.1(MPDZ):c.4154C>T (p.Ala1385Val)	MPDZ (A1249V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 929453	NM_001378778.1(MPDZ):c.4003+1G>A	MPDZ	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1365096	NM_001378778.1(MPDZ):c.3845C>T (p.Pro1282Leu)	MPDZ (P1212L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1706409	NM_001378778.1(MPDZ):c.3836A>G (p.Asp1279Gly)	MPDZ (D1279G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303333	NM_001378778.1(MPDZ):c.3830A>G (p.Asn1277Ser)	MPDZ (N1277S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 450463	NM_001378778.1(MPDZ):c.3686G>A (p.Arg1229Gln)	MPDZ (R1229Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1572220	NM_001378778.1(MPDZ):c.3602C>G (p.Thr1201Ser)	MPDZ (T1135S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 376860	NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg)	MPDZ (S1194R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1412278	NM_001378778.1(MPDZ):c.3430A>G (p.Ser1144Gly)	MPDZ (S1144G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3201372	NM_001378778.1(MPDZ):c.3327G>A (p.Met1109Ile)	MPDZ (M1109I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1307981	NM_001378778.1(MPDZ):c.3007G>A (p.Glu1003Lys)	MPDZ (E1003K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158890	NM_001378778.1(MPDZ):c.2754G>A (p.Ser918=)	MPDZ	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 450405	NM_001378778.1(MPDZ):c.2746dup (p.Thr916fs)	MPDZ (T916fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 392244	NM_001378778.1(MPDZ):c.2600G>A (p.Cys867Tyr)	MPDZ (C867Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721057	NM_001378778.1(MPDZ):c.2537C>G (p.Ser846Cys)	MPDZ (S846C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2080491	NM_001378778.1(MPDZ):c.2468C>T (p.Ala823Val)	MPDZ (A823V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392245	NM_001378778.1(MPDZ):c.2389T>C (p.Ser797Pro)	MPDZ (S797P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303774	NM_001378778.1(MPDZ):c.2364C>T (p.Pro788=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2575647	NM_001378778.1(MPDZ):c.2207G>A (p.Gly736Asp)	MPDZ (G736D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211509	NM_001378778.1(MPDZ):c.2105A>T (p.Glu702Val)	MPDZ (E702V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 211508	NM_001378778.1(MPDZ):c.2104G>A (p.Glu702Lys)	MPDZ (E702K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2579850	NM_001378778.1(MPDZ):c.1999T>A (p.Ser667Thr)	MPDZ (S667T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434200	NM_001378778.1(MPDZ):c.1741G>T (p.Val581Phe)	MPDZ (V581F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2575646	NM_001378778.1(MPDZ):c.1699A>T (p.Ile567Leu)	MPDZ (I567L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306296	NM_001378778.1(MPDZ):c.1538AAG[2] (p.Glu515del)	MPDZ (E515del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 817164	NM_001378778.1(MPDZ):c.1335dup (p.Glu446fs)	MPDZ (E446fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2504882	NM_001378778.1(MPDZ):c.1273_1274delinsTT (p.Gly425Leu)	MPDZ (G425L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1704726	NM_001378778.1(MPDZ):c.1087G>A (p.Val363Ile)	MPDZ (V363I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1476356	NM_001378778.1(MPDZ):c.1084C>T (p.Arg362Trp)	MPDZ (R362W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 158889	NM_001378778.1(MPDZ):c.1074A>G (p.Thr358=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 450407	NM_001378778.1(MPDZ):c.926A>G (p.Asp309Gly)	MPDZ (D309G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523394	NM_001378778.1(MPDZ):c.704G>T (p.Arg235Leu)	MPDZ (R235L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410890	NM_001378778.1(MPDZ):c.658A>T (p.Ile220Phe)	MPDZ (I220F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359728	NM_001378778.1(MPDZ):c.367G>A (p.Asp123Asn)	MPDZ (D123N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3371759	NM_001378778.1(MPDZ):c.229G>T (p.Val77Phe)	MPDZ (V77F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303332	NM_001378778.1(MPDZ):c.18C>G (p.Asp6Glu)	MPDZ (D6E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3364344	NM_001378778.1(MPDZ):c.-57-1G>A	MPDZ	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 253670	GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	ACER2, ADAMTSL1 +59 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 65