ClinVar for Gene (Select 283933) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259766	NM_001136509.3(ZNF843):c.146T>C (p.Leu49Pro)	ZNF843 (L49P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259765	NM_001136509.3(ZNF843):c.23T>G (p.Leu8Arg)	ZNF843 (L8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259764	NM_001136509.3(ZNF843):c.965C>G (p.Ser322Trp)	ZNF843 (S322W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198769	NM_001136509.3(ZNF843):c.893A>G (p.His298Arg)	ZNF843 (H298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198768	NM_001136509.3(ZNF843):c.883G>C (p.Ala295Pro)	ZNF843 (A295P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198767	NM_001136509.3(ZNF843):c.809G>A (p.Arg270Lys)	ZNF843 (R270K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198766	NM_001136509.3(ZNF843):c.805C>T (p.Pro269Ser)	ZNF843 (P269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198765	NM_001136509.3(ZNF843):c.797C>T (p.Ala266Val)	ZNF843 (A266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198764	NM_001136509.3(ZNF843):c.682A>T (p.Ser228Cys)	ZNF843 (S228C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198763	NM_001136509.3(ZNF843):c.417C>A (p.His139Gln)	ZNF843 (H139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198762	NM_001136509.3(ZNF843):c.284G>A (p.Arg95Gln)	ZNF843 (R95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063423	GRCh37/hg19 16p11.2(chr16:31451337-31491435)x1	ARMC5, TGFB1I1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 2593594	NM_001136509.3(ZNF843):c.176G>A (p.Arg59Gln)	ZNF843 (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588078	NM_001136509.3(ZNF843):c.977G>T (p.Trp326Leu)	ZNF843 (W326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551905	NM_001136509.3(ZNF843):c.43G>A (p.Ala15Thr)	ZNF843 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526108	NM_001136509.3(ZNF843):c.776C>T (p.Pro259Leu)	ZNF843 (P259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518264	NM_001136509.3(ZNF843):c.248G>A (p.Ser83Asn)	ZNF843 (S83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483825	NM_001136509.3(ZNF843):c.949G>T (p.Ala317Ser)	ZNF843 (A317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479890	NM_001136509.3(ZNF843):c.370G>A (p.Gly124Ser)	ZNF843 (G124S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470279	NM_001136509.3(ZNF843):c.1031A>G (p.Asn344Ser)	ZNF843 (N344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455277	NM_001136509.3(ZNF843):c.913G>T (p.Gly305Cys)	ZNF843 (G305C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411852	NM_001136509.3(ZNF843):c.650G>A (p.Arg217Gln)	ZNF843 (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405099	NM_001136509.3(ZNF843):c.829C>T (p.Arg277Trp)	ZNF843 (R277W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395325	NM_001136509.3(ZNF843):c.661C>T (p.Leu221Phe)	ZNF843 (L221F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392975	NM_001136509.3(ZNF843):c.532G>A (p.Val178Met)	ZNF843 (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382308	NM_001136509.3(ZNF843):c.896G>C (p.Arg299Thr)	ZNF843 (R299T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362168	NM_001136509.3(ZNF843):c.537G>C (p.Glu179Asp)	ZNF843 (E179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355173	NM_001136509.3(ZNF843):c.724G>A (p.Ala242Thr)	ZNF843 (A242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346504	NM_001136509.3(ZNF843):c.319A>T (p.Thr107Ser)	ZNF843 (T107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334478	NM_001136509.3(ZNF843):c.757G>T (p.Val253Phe)	ZNF843 (V253F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316695	NM_001136509.3(ZNF843):c.120G>C (p.Arg40Ser)	ZNF843 (R40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315321	NM_001136509.3(ZNF843):c.557G>C (p.Ser186Thr)	ZNF843 (S186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289791	NM_001136509.3(ZNF843):c.538A>G (p.Ser180Gly)	ZNF843 (S180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261496	NM_001136509.3(ZNF843):c.970C>G (p.Pro324Ala)	ZNF843 (P324A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258642	NM_001136509.3(ZNF843):c.625C>G (p.Leu209Val)	ZNF843 (L209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249730	NM_001136509.3(ZNF843):c.490G>A (p.Val164Ile)	ZNF843 (V164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221519	GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3	AHSP, ARMC5 +15 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 50