"University of Washington Center for Mendelian Genomics, University of - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 487354	NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg)	ZMIZ1 (K91R)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 996609	NM_020338.4(ZMIZ1):c.859G>A (p.Ala287Thr)	ZMIZ1 (A287T)	Single nucleotide variant (missense variant)	ZMIZ1-related condition	GUncertain significance
Select item 996613	NM_020338.4(ZMIZ1):c.887C>T (p.Thr296Ile)	ZMIZ1 (T296I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 694591	NM_020338.4(ZMIZ1):c.887C>A (p.Thr296Lys)	ZMIZ1 (T296K)	Single nucleotide variant (missense variant)	Syndromic neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 996610	NM_020338.4(ZMIZ1):c.893C>T (p.Thr298Ile)	ZMIZ1 (T298I)	Single nucleotide variant (missense variant)	Syndromic neurodevelopmental disorder	GLikely pathogenic
Select item 694588	NM_020338.4(ZMIZ1):c.899C>T (p.Thr300Met)	ZMIZ1 (T300M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 694593	NM_020338.4(ZMIZ1):c.1386dup (p.Thr463fs)	ZMIZ1 (T463fs)	Duplication (frameshift variant)	Syndromic neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 996611	NM_020338.4(ZMIZ1):c.2610C>T (p.Ser870=)	ZMIZ1	Single nucleotide variant (synonymous variant)	Syndromic neurodevelopmental disorder	GLikely pathogenic
Select item 548962	NM_020338.4(ZMIZ1):c.2758dup (p.Gln920fs)	ZMIZ1 (Q920fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 996614	NM_020338.4(ZMIZ1):c.2835del (p.Met946fs)	ZMIZ1 (M946fs)	Deletion (frameshift variant)	Syndromic neurodevelopmental disorder	GLikely pathogenic
Select item 996612	NM_020338.4(ZMIZ1):c.3021del (p.Phe1008fs)	ZMIZ1 (F1008fs)	Deletion (frameshift variant)	Syndromic neurodevelopmental disorder	GLikely pathogenic
Select item 694592	NM_020338.4(ZMIZ1):c.3097-2A>G	ZMIZ1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies +1 more	GPathogenic/Likely pathogenic
Select item 694589	NM_020338.4(ZMIZ1):c.3112dup (p.Thr1038fs)	ZMIZ1 (T1038fs)	Duplication (frameshift variant)	Syndromic neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic