ClinVar for Gene (Select 64763) - ClinVar

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

Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258746	NM_022752.6(ZNF574):c.2501T>C (p.Phe834Ser)	ZNF574 (F834S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258745	NM_022752.6(ZNF574):c.2299C>G (p.Pro767Ala)	ZNF574 (P857A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258744	NM_022752.6(ZNF574):c.2222G>A (p.Ser741Asn)	ZNF574 (S831N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258742	NM_022752.6(ZNF574):c.1631C>T (p.Thr544Ile)	ZNF574 (T544I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258741	NM_022752.6(ZNF574):c.2622G>A (p.Ala874=)	ZNF574	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3258740	NM_022752.6(ZNF574):c.1358C>T (p.Ser453Phe)	ZNF574 (S453F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258739	NM_022752.6(ZNF574):c.2125C>G (p.Arg709Gly)	ZNF574 (R709G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258738	NM_022752.6(ZNF574):c.2135G>A (p.Arg712His)	ZNF574 (R712H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258737	NM_022752.6(ZNF574):c.836G>A (p.Arg279His)	ZNF574 (R369H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196886	NM_022752.6(ZNF574):c.850A>G (p.Ile284Val)	ZNF574 (I284V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196884	NM_022752.6(ZNF574):c.578C>T (p.Ala193Val)	ZNF574 (A193V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196883	NM_022752.6(ZNF574):c.556G>A (p.Ala186Thr)	ZNF574 (A186T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196882	NM_022752.6(ZNF574):c.523G>A (p.Ala175Thr)	ZNF574 (A265T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196881	NM_022752.6(ZNF574):c.433C>T (p.Arg145Trp)	ZNF574 (R235W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196880	NM_022752.6(ZNF574):c.2558G>A (p.Arg853Gln)	ZNF574 (R853Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196878	NM_022752.6(ZNF574):c.2164G>A (p.Gly722Arg)	ZNF574 (G722R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196877	NM_022752.6(ZNF574):c.2111C>T (p.Ala704Val)	ZNF574 (A794V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196876	NM_022752.6(ZNF574):c.2069C>T (p.Ala690Val)	ZNF574 (A780V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196875	NM_022752.6(ZNF574):c.2042G>A (p.Arg681Gln)	ZNF574 (R771Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196874	NM_022752.6(ZNF574):c.203A>G (p.Gln68Arg)	ZNF574 (Q158R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196872	NM_022752.6(ZNF574):c.1906C>T (p.His636Tyr)	ZNF574 (H636Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196871	NM_022752.6(ZNF574):c.1855C>T (p.Arg619Cys)	ZNF574 (R619C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196870	NM_022752.6(ZNF574):c.166G>A (p.Val56Met)	ZNF574 (V56M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196869	NM_022752.6(ZNF574):c.1654C>T (p.Arg552Trp)	ZNF574 (R552W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196868	NM_022752.6(ZNF574):c.1456C>T (p.Arg486Cys)	ZNF574 (R486C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196867	NM_022752.6(ZNF574):c.1414A>G (p.Ser472Gly)	ZNF574 (S472G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196866	NM_022752.6(ZNF574):c.1343C>T (p.Pro448Leu)	ZNF574 (P538L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196865	NM_022752.6(ZNF574):c.1289C>G (p.Pro430Arg)	ZNF574 (P430R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196864	NM_022752.6(ZNF574):c.1268C>T (p.Thr423Ile)	ZNF574 (T423I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618413	NM_022752.6(ZNF574):c.154C>G (p.Pro52Ala)	ZNF574 (P142A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601442	NM_022752.6(ZNF574):c.872G>A (p.Arg291His)	ZNF574 (R291H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568749	NM_022752.6(ZNF574):c.536T>C (p.Val179Ala)	ZNF574 (V179A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561052	NM_022752.6(ZNF574):c.434G>A (p.Arg145Gln)	ZNF574 (R145Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554824	NM_022752.6(ZNF574):c.1793G>A (p.Arg598His)	ZNF574 (R598H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553395	NM_022752.6(ZNF574):c.143G>A (p.Gly48Asp)	ZNF574 (G48D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551369	NM_022752.6(ZNF574):c.2122C>T (p.Pro708Ser)	ZNF574 (P708S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549919	NM_022752.6(ZNF574):c.1910G>A (p.Arg637His)	ZNF574 (R727H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549687	NM_022752.6(ZNF574):c.2107C>T (p.Pro703Ser)	ZNF574 (P793S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532191	NM_022752.6(ZNF574):c.593C>T (p.Ala198Val)	ZNF574 (A198V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532190	NM_022752.6(ZNF574):c.592G>T (p.Ala198Ser)	ZNF574 (A198S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519381	NM_022752.6(ZNF574):c.2150C>T (p.Ser717Phe)	ZNF574 (S717F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518307	NM_022752.6(ZNF574):c.1909C>T (p.Arg637Cys)	ZNF574 (R727C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494719	NM_022752.6(ZNF574):c.2473C>T (p.Pro825Ser)	ZNF574 (P825S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490320	NM_022752.6(ZNF574):c.1816C>T (p.Pro606Ser)	ZNF574 (P606S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484163	NM_022752.6(ZNF574):c.2527A>G (p.Thr843Ala)	ZNF574 (T933A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472030	NM_022752.6(ZNF574):c.299A>G (p.Lys100Arg)	ZNF574 (K100R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466887	NM_022752.6(ZNF574):c.1502G>C (p.Gly501Ala)	ZNF574 (G501A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466540	NM_022752.6(ZNF574):c.2189C>T (p.Ala730Val)	ZNF574 (A730V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459317	NM_022752.6(ZNF574):c.1457G>A (p.Arg486His)	ZNF574 (R486H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2401822	NM_022752.6(ZNF574):c.1546A>G (p.Thr516Ala)	ZNF574 (T606A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388194	NM_022752.6(ZNF574):c.1655G>C (p.Arg552Pro)	ZNF574 (R642P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369533	NM_022752.6(ZNF574):c.1399C>T (p.Arg467Cys)	ZNF574 (R467C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363658	NM_022752.6(ZNF574):c.1760G>A (p.Arg587His)	ZNF574 (R587H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361938	NM_022752.6(ZNF574):c.1949G>A (p.Arg650Gln)	ZNF574 (R650Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352229	NM_022752.6(ZNF574):c.1298G>A (p.Gly433Asp)	ZNF574 (G433D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337767	NM_022752.6(ZNF574):c.2561A>G (p.Gln854Arg)	ZNF574 (Q854R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335619	NM_022752.6(ZNF574):c.934T>C (p.Ser312Pro)	ZNF574 (S402P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282102	NM_022752.6(ZNF574):c.1481G>A (p.Arg494His)	ZNF574 (R584H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278917	NM_022752.6(ZNF574):c.929T>G (p.Phe310Cys)	ZNF574 (F310C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276033	NM_022752.6(ZNF574):c.2117G>A (p.Arg706Gln)	ZNF574 (R796Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267547	NM_022752.6(ZNF574):c.1562G>A (p.Arg521Gln)	ZNF574 (R611Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267328	NM_022752.6(ZNF574):c.724C>T (p.Pro242Ser)	ZNF574 (P242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258058	NM_022752.6(ZNF574):c.718C>T (p.Pro240Ser)	ZNF574 (P330S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231490	NM_022752.6(ZNF574):c.304A>C (p.Met102Leu)	ZNF574 (M102L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225030	NM_022752.6(ZNF574):c.2621C>T (p.Ala874Val)	ZNF574 (A964V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224808	NM_022752.6(ZNF574):c.2203C>T (p.Arg735Cys)	ZNF574 (R735C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222061	NM_022752.6(ZNF574):c.1163C>T (p.Pro388Leu)	ZNF574 (P388L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221743	NM_022752.6(ZNF574):c.1955G>A (p.Arg652Gln)	ZNF574 (R652Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210615	NM_022752.6(ZNF574):c.1400G>A (p.Arg467His)	ZNF574 (R467H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206709	NM_022752.6(ZNF574):c.595G>A (p.Ala199Thr)	ZNF574 (A199T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1064661	GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1	ATP1A3, DEDD2 +34 more	Copy number loss	Syndromic intellectual disability	GPathogenic
Select item 1064660	NC_000019.10:g.42032860_42297536del	CIC, DEDD2 +43 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 1064658	NC_000019.10:g.41983952_42247520del	ATP1A3, DEDD2 +33 more	Deletion	Syndromic intellectual disability	GPathogenic
Select item 1064657	NC_000019.10:g.41952441_42266625del	ATP1A3, DEDD2 +42 more	Deletion	Syndromic craniosynostosis	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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: 82