"Genetic Services Laboratory, University of Chicago"[submitter] AND "M - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 211519	NM_001378778.1(MPDZ):c.5723G>A (p.Arg1908Lys)	MPDZ (R1879K +7 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 211518	NM_001378778.1(MPDZ):c.5634T>C (p.Ala1878=)	MPDZ	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 211517	NM_001378778.1(MPDZ):c.4810A>G (p.Thr1604Ala)	MPDZ (T1604A +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 211516	NM_001378778.1(MPDZ):c.4807+14A>G	MPDZ	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 211514	NM_001378778.1(MPDZ):c.4341A>G (p.Val1447=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 777188	NM_001378778.1(MPDZ):c.4220A>G (p.Tyr1407Cys)	MPDZ (Y1407C +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 211513	NM_001378778.1(MPDZ):c.3893C>T (p.Pro1298Leu)	MPDZ (P1298L +3 more)	Single nucleotide variant (missense variant)	MPDZ-related condition +2 more	GBenign
Select item 158891	NM_001378778.1(MPDZ):c.3609A>G (p.Lys1203=)	MPDZ	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 376860	NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg)	MPDZ (S1194R +1 more)	Single nucleotide variant (missense variant)	MPDZ-related condition +2 more	GConflicting classifications of pathogenicity
Select item 211512	NM_001378778.1(MPDZ):c.2914C>T (p.Pro972Ser)	MPDZ (P972S)	Single nucleotide variant (missense variant)	MPDZ-related condition +2 more	GBenign/Likely benign
Select item 158890	NM_001378778.1(MPDZ):c.2754G>A (p.Ser918=)	MPDZ	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 211511	NM_001378778.1(MPDZ):c.2602G>A (p.Gly868Ser)	MPDZ (G868S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 211510	NM_001378778.1(MPDZ):c.2580A>G (p.Leu860=)	MPDZ	Single nucleotide variant (synonymous variant)	MPDZ-related condition +2 more	GConflicting classifications of pathogenicity
Select item 773227	NM_001378778.1(MPDZ):c.2395A>G (p.Lys799Glu)	MPDZ (K799E)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 211509	NM_001378778.1(MPDZ):c.2105A>T (p.Glu702Val)	MPDZ (E702V)	Single nucleotide variant (missense variant)	not provided +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 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 726247	NM_001378778.1(MPDZ):c.1975G>A (p.Val659Ile)	MPDZ (V659I)	Single nucleotide variant (missense variant)	MPDZ-related condition +2 more	GConflicting classifications of pathogenicity
Select item 211507	NM_001378778.1(MPDZ):c.1197A>G (p.Lys399=)	MPDZ	Single nucleotide variant (synonymous variant)	MPDZ-related condition +2 more	GConflicting classifications of pathogenicity
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 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 211521	NM_001378778.1(MPDZ):c.755G>A (p.Trp252Ter)	MPDZ (W252*)	Single nucleotide variant (nonsense)	Hydrocephalus, nonsyndromic, autosomal recessive 2	GPathogenic
Select item 211520	NM_001378778.1(MPDZ):c.663C>T (p.Ala221=)	MPDZ	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 435884	NM_001378778.1(MPDZ):c.511C>G (p.Gln171Glu)	MPDZ (Q171E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 774428	NM_001378778.1(MPDZ):c.275C>T (p.Ser92Leu)	MPDZ (S92L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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Items: 26