Related gene-specific medical variations for Gene (Select 57178) - ClinVar

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

Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065050	NM_020338.4(ZMIZ1):c.977A>G (p.Tyr326Cys)	ZMIZ1 (Y326C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 2907627	NM_020338.4(ZMIZ1):c.2322C>T (p.Cys774=)	LOC126860975, ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819478	NM_020338.4(ZMIZ1):c.2391G>A (p.Gln797=)	LOC126860975, ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783377	NM_020338.4(ZMIZ1):c.2287-8G>A	LOC126860975, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752013	NM_020338.4(ZMIZ1):c.2410A>T (p.Asn804Tyr)	LOC126860975, ZMIZ1 (N804Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697691	NM_020338.4(ZMIZ1):c.2317A>G (p.Asn773Asp)	LOC126860975, ZMIZ1 (N773D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671926	NM_020338.4(ZMIZ1):c.2617C>T (p.Pro873Ser)	ZMIZ1 (P873S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 2663441	NM_020338.4(ZMIZ1):c.2396T>C (p.Met799Thr)	LOC126860975, ZMIZ1 (M799T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640633	NM_020338.4(ZMIZ1):c.426-4205C>T	LOC128462388, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2640632	NM_020338.4(ZMIZ1):c.426-4246C>T	LOC128462388, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2640631	NM_020338.4(ZMIZ1):c.426-4294A>T	LOC128462388, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2633301	NM_020338.4(ZMIZ1):c.2407C>G (p.Leu803Val)	LOC126860975, ZMIZ1 (L803V)	Single nucleotide variant (missense variant)	ZMIZ1-related condition	GUncertain significance
Select item 2584665	NM_020338.4(ZMIZ1):c.1414-3dup	ZMIZ1	Duplication (intron variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 2584596	NM_020338.4(ZMIZ1):c.410C>A (p.Pro137His)	ZMIZ1 (P137H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 2576011	NM_020338.4(ZMIZ1):c.1566del (p.Ser524fs)	ZMIZ1 (S524fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2503420	NM_020338.4(ZMIZ1):c.328C>T (p.Arg110Ter)	ZMIZ1 (R110*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GLikely pathogenic
Select item 2438658	NM_020338.4(ZMIZ1):c.1297G>A (p.Ala433Thr)	ZMIZ1 (A433T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 2438657	NM_020338.4(ZMIZ1):c.2421A>G (p.Gln807=)	LOC126860975, ZMIZ1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 2438656	NM_020338.4(ZMIZ1):c.1475A>G (p.Gln492Arg)	ZMIZ1 (Q492R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 2438655	NM_020338.4(ZMIZ1):c.2655C>G (p.Asp885Glu)	ZMIZ1 (D885E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 2438654	NM_020338.4(ZMIZ1):c.1924G>C (p.Gly642Arg)	ZMIZ1 (G642R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 2429989	NM_020338.4(ZMIZ1):c.2131C>T (p.Arg711Trp)	ZMIZ1 (R711W)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429988	NM_020338.4(ZMIZ1):c.1876_1908del (p.Ala626_Pro636del)	ZMIZ1	Deletion (inframe_deletion)	Developmental disorder	GUncertain significance
Select item 2429404	NM_020338.4(ZMIZ1):c.1861A>C (p.Asn621His)	ZMIZ1 (N621H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2228001	NM_020338.4(ZMIZ1):c.2362G>T (p.Ala788Ser)	LOC126860975, ZMIZ1 (A788S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2042024	NM_020338.4(ZMIZ1):c.2370G>A (p.Leu790=)	LOC126860975, ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035780	NM_020338.4(ZMIZ1):c.2354+7del	LOC126860975, ZMIZ1	Deletion (intron variant)	not provided	GLikely benign
Select item 2025979	NM_020338.4(ZMIZ1):c.2354+13C>T	LOC126860975, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978280	NM_020338.4(ZMIZ1):c.2354+11C>G	LOC126860975, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976832	NM_020338.4(ZMIZ1):c.2287-20G>A	LOC126860975, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974194	NM_020338.4(ZMIZ1):c.2354+19G>T	LOC126860975, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973553	NM_020338.4(ZMIZ1):c.2287-16G>A	LOC126860975, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973287	NM_020338.4(ZMIZ1):c.2361C>T (p.Thr787=)	LOC126860975, ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971977	NM_020338.4(ZMIZ1):c.2354+19G>A	LOC126860975, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1971433	NM_020338.4(ZMIZ1):c.2355-16C>G	LOC126860975, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712191	NM_020338.4(ZMIZ1):c.2303C>T (p.Ser768Leu)	LOC126860975, ZMIZ1 (S768L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710236	NM_020338.4(ZMIZ1):c.2362G>A (p.Ala788Thr)	LOC126860975, ZMIZ1 (A788T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 1676563	NM_020338.4(ZMIZ1):c.-226-43G>A	ZMIZ1	Single nucleotide variant	not provided	GUncertain significance
Select item 1586130	NM_020338.4(ZMIZ1):c.2316G>C (p.Leu772=)	LOC126860975, ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1342368	NM_020338.4(ZMIZ1):c.281-21790A>G	ZMIZ1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 1341934	NM_020338.4(ZMIZ1):c.957+3A>G	ZMIZ1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 1281699	NM_020338.4(ZMIZ1):c.-49-17111T>G	LOC126860974, ZMIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 992770	NM_020338.4(ZMIZ1):c.2177A>G (p.Asn726Ser)	ZMIZ1 (N726S)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 987036	NM_020338.4(ZMIZ1):c.2758C>T (p.Gln920Ter)	ZMIZ1 (Q920*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 986917	NM_020338.4(ZMIZ1):c.2307C>G (p.Tyr769Ter)	LOC126860975, ZMIZ1 (Y769*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 685349	GRCh37/hg19 10q22.3(chr10:80876923-81004815)x1	ZMIZ1	Copy number loss	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 46