ZNF302[gene] - ClinVar

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

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 2276922	NM_001289187.2(ZNF302):c.37T>G (p.Phe13Val)	ZNF302 (F13V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511603	NM_001289187.2(ZNF302):c.100G>A (p.Val34Ile)	ZNF302 (V78I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195033	NM_001289187.2(ZNF302):c.107A>G (p.Asn36Ser)	ZNF302 (N36S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251417	NM_001289187.2(ZNF302):c.117C>A (p.Asn39Lys)	ZNF302 (N39K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382209	NM_001289187.2(ZNF302):c.139G>A (p.Val47Ile)	ZNF302 (V48I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329533	NM_001289187.2(ZNF302):c.152A>G (p.Tyr51Cys)	ZNF302 (Y51C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599277	NM_001289187.2(ZNF302):c.211A>G (p.Lys71Glu)	ZNF302 (K115E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195036	NM_001289187.2(ZNF302):c.222A>C (p.Glu74Asp)	ZNF302 (E75D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207926	NM_001289187.2(ZNF302):c.230G>C (p.Trp77Ser)	ZNF302 (W121S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335422	NM_001289187.2(ZNF302):c.289G>C (p.Val97Leu)	ZNF302 (V98L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 791047	NM_001289187.2(ZNF302):c.364G>A (p.Asp122Asn)	ZNF302 (D166N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2300002	NM_001289187.2(ZNF302):c.462G>T (p.Lys154Asn)	ZNF302 (K198N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376868	NM_001289187.2(ZNF302):c.521T>C (p.Leu174Ser)	ZNF302 (L174S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2485632	NM_001289187.2(ZNF302):c.592G>A (p.Glu198Lys)	ZNF302 (E198K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408906	NM_001289187.2(ZNF302):c.617G>A (p.Cys206Tyr)	ZNF302 (C206Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335421	NM_001289187.2(ZNF302):c.649A>G (p.Ser217Gly)	ZNF302 (S218G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 770809	NM_001289187.2(ZNF302):c.650G>A (p.Ser217Asn)	ZNF302 (S218N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2359855	NM_001289187.2(ZNF302):c.652C>T (p.Arg218Cys)	ZNF302 (R219C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195037	NM_001289187.2(ZNF302):c.694C>T (p.Arg232Cys)	ZNF302 (R232C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312136	NM_001289187.2(ZNF302):c.704G>T (p.Gly235Val)	ZNF302 (G279V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510356	NM_001289187.2(ZNF302):c.734C>G (p.Thr245Arg)	ZNF302 (T246R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383637	NM_001289187.2(ZNF302):c.806G>T (p.Gly269Val)	ZNF302 (G313V +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3195038	NM_001289187.2(ZNF302):c.808T>A (p.Ser270Thr)	ZNF302 (S270T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391562	NM_001289187.2(ZNF302):c.823C>T (p.His275Tyr)	ZNF302 (H276Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347759	NM_001289187.2(ZNF302):c.875A>T (p.Lys292Met)	ZNF302 (K293M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195040	NM_001289187.2(ZNF302):c.887G>T (p.Arg296Leu)	ZNF302 (R296L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195039	NM_001289187.2(ZNF302):c.887G>A (p.Arg296His)	ZNF302 (R340H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2561124	NM_001289187.2(ZNF302):c.946C>T (p.Arg316Cys)	ZNF302 (R316C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195031	NM_001289187.2(ZNF302):c.1024G>A (p.Glu342Lys)	ZNF302 (E342K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2340061	NM_001289187.2(ZNF302):c.1040G>A (p.Gly347Glu)	ZNF302 (G348E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335420	NM_001289187.2(ZNF302):c.1044A>C (p.Lys348Asn)	ZNF302 (K348N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350312	NM_001289187.2(ZNF302):c.1076A>G (p.His359Arg)	ZNF302 (H403R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 778828	NM_001289187.2(ZNF302):c.1097A>G (p.Lys366Arg)	ZNF302 (K367R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3195034	NM_001289187.2(ZNF302):c.1171C>T (p.His391Tyr)	ZNF302 (H392Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195035	NM_001289187.2(ZNF302):c.1172A>G (p.His391Arg)	ZNF302 (H392R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	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 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
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 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 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

Search results

Items: 51