Related gene-specific medical variations for Gene (Select 7701) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307347	NM_032726.4(PLCD4):c.2195T>G (p.Ile732Ser)	PLCD4, ZNF142 (I732S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307344	NM_032726.4(PLCD4):c.2276G>C (p.Gly759Ala)	PLCD4, ZNF142 (G759A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307340	NM_032726.4(PLCD4):c.1516C>T (p.Arg506Cys)	PLCD4, ZNF142 (R506C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307339	NM_032726.4(PLCD4):c.2269C>G (p.Leu757Val)	PLCD4, ZNF142 (L757V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3307337	NM_032726.4(PLCD4):c.1589G>A (p.Arg530His)	PLCD4, ZNF142 (R530H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214459	NM_032726.4(PLCD4):c.2063G>A (p.Cys688Tyr)	PLCD4, ZNF142 (C688Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3214458	NM_032726.4(PLCD4):c.1780C>T (p.Arg594Cys)	PLCD4, ZNF142 (R594C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3064804	NM_001379659.1(ZNF142):c.2585A>T (p.Glu862Val)	ZNF142 (E499V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GLikely benign
Select item 2690781	NM_001379659.1(ZNF142):c.916C>T (p.Gln306Ter)	ZNF142 (Q106* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GConflicting classifications of pathogenicity
Select item 2651884	NM_032726.4(PLCD4):c.2007G>A (p.Gln669=)	PLCD4, ZNF142	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2617298	NM_032726.4(PLCD4):c.2132G>A (p.Arg711Gln)	PLCD4, ZNF142 (R711Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2609557	NM_032726.4(PLCD4):c.2174T>C (p.Met725Thr)	PLCD4, ZNF142 (M725T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2546906	NM_032726.4(PLCD4):c.2156C>T (p.Thr719Ile)	PLCD4, ZNF142 (T719I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2442199	NM_001379659.1(ZNF142):c.1763A>C (p.Gln588Pro)	ZNF142 (Q225P +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GUncertain significance
Select item 2441903	NM_001379659.1(ZNF142):c.4487G>C (p.Ser1496Thr)	ZNF142 (S1133T +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GUncertain significance
Select item 2438668	NM_001379659.1(ZNF142):c.88C>A (p.Pro30Thr)	ZNF142 (P30T)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GUncertain significance
Select item 2438666	NM_001379659.1(ZNF142):c.5036del (p.Pro1679fs)	ZNF142 (P1316fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GUncertain significance
Select item 2383776	NM_032726.4(PLCD4):c.1646G>A (p.Arg549His)	PLCD4, ZNF142 (R549H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2374351	NM_032726.4(PLCD4):c.1561T>C (p.Ser521Pro)	PLCD4, ZNF142 (S521P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2346245	NM_032726.4(PLCD4):c.2119G>A (p.Asp707Asn)	PLCD4, ZNF142 (D707N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2338933	NM_032726.4(PLCD4):c.2029A>G (p.Asn677Asp)	PLCD4, ZNF142 (N677D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2334900	NM_032726.4(PLCD4):c.1645C>T (p.Arg549Cys)	PLCD4, ZNF142 (R549C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2298004	NM_032726.4(PLCD4):c.1988G>A (p.Arg663His)	PLCD4, ZNF142 (R663H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2226382	NM_032726.4(PLCD4):c.1792G>A (p.Gly598Ser)	PLCD4, ZNF142 (G598S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2207102	NM_032726.4(PLCD4):c.2189G>A (p.Arg730His)	PLCD4, ZNF142 (R730H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2206234	NM_032726.4(PLCD4):c.1722G>A (p.Met574Ile)	PLCD4, ZNF142 (M574I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2205385	NM_032726.4(PLCD4):c.1925T>C (p.Val642Ala)	PLCD4, ZNF142 (V642A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1676499	NM_001105537.4(ZNF142):c.3406C>G (p.His1136Asp)	ZNF142 (H1136D +2 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1676492	NM_001366290.3(ZNF142):c.598T>C (p.Cys200Arg)	ZNF142 (C200R)	Single nucleotide variant	not provided	GUncertain significance
Select item 1342648	NM_001379659.1(ZNF142):c.3787dup (p.Gln1263fs)	ZNF142 (Q1063fs +2 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	GLikely pathogenic
Select item 1341920	NM_001379659.1(ZNF142):c.3640G>A (p.Glu1214Lys)	ZNF142 (E1014K +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements +1 more	GUncertain significance
Select item 1319336	NM_001379659.1(ZNF142):c.3067C>T (p.Arg1023Trp)	ZNF142 (R1023W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319335	NM_001379659.1(ZNF142):c.3185G>T (p.Arg1062Leu)	ZNF142 (R1062L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1262585	NM_001379659.1(ZNF142):c.-576C>T	BCS1L, ZNF142	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 631476	NM_001379659.1(ZNF142):c.4785G>A (p.Leu1595=)	ZNF142	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 631475	NM_001379659.1(ZNF142):c.4783del (p.Leu1595fs)	ZNF142 (L1395fs +2 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Links from Gene

Items: 36