ClinVar for Gene (Select 55900) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
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 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 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 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 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 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FFAR3, FXYD1 +83 more	Duplication	Hereditary spastic paraplegia 75	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 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 2383637	NM_001289187.2(ZNF302):c.806G>T (p.Gly269Val)	ZNF302 (G313V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
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 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 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 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 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 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 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 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 2300002	NM_001289187.2(ZNF302):c.462G>T (p.Lys154Asn)	ZNF302 (K198N +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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
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 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	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 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51