ZNF207[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 3194329	NM_001098507.2(ZNF207):c.295C>G (p.Gln99Glu)	ZNF207 (Q99E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272510	NM_001098507.2(ZNF207):c.597C>G (p.Asn199Lys)	ZNF207 (N199K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495531	NM_001098507.2(ZNF207):c.605T>C (p.Met202Thr)	ZNF207 (M186T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493437	NM_001098507.2(ZNF207):c.610A>G (p.Met204Val)	ZNF207 (M188V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602063	NM_001098507.2(ZNF207):c.652A>G (p.Met218Val)	ZNF207 (M202V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518062	NM_001098507.2(ZNF207):c.742A>G (p.Ile248Val)	ZNF207 (I232V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295023	NM_001098507.2(ZNF207):c.845C>A (p.Thr282Lys)	ZNF207 (T266K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647658	NM_001098507.2(ZNF207):c.872C>G (p.Ser291Ter)	ZNF207 (S275* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3194331	NM_001098507.2(ZNF207):c.880C>G (p.Leu294Val)	ZNF207 (L278V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335112	NM_001098507.2(ZNF207):c.897A>T (p.Lys299Asn)	ZNF207 (K299N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194332	NM_001098507.2(ZNF207):c.991A>G (p.Thr331Ala)	ZNF207 (T331A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531346	NM_001098507.2(ZNF207):c.1034C>T (p.Thr345Ile)	ZNF207 (T314I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283309	NM_001098507.2(ZNF207):c.1187C>T (p.Pro396Leu)	ZNF207 (P396L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194327	NM_001098507.2(ZNF207):c.1202A>G (p.Asn401Ser)	ZNF207 (N370S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412367	NM_001098507.2(ZNF207):c.1252A>G (p.Ile418Val)	ZNF207 (I402V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527124	NM_001098507.2(ZNF207):c.1263G>A (p.Met421Ile)	ZNF207 (M421I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399845	NM_001098507.2(ZNF207):c.1285C>T (p.Pro429Ser)	ZNF207 (P398S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345309	NM_001098507.2(ZNF207):c.1312A>G (p.Met438Val)	ZNF207 (M407V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558094	NM_001098507.2(ZNF207):c.1366C>T (p.Pro456Ser)	ZNF207 (P425S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194328	NM_001098507.2(ZNF207):c.1382C>T (p.Pro461Leu)	ZNF207 (P430L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335113	NM_001098507.2(ZNF207):c.1433G>A (p.Arg478Gln)	ZNF207 (R447Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	C17orf75, CDK5R1 +16 more	Copy number gain	not specified	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2684843	GRCh37/hg19 17q11.2(chr17:30579124-30861865)x3	C17orf75, CDK5R1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1526573	GRCh37/hg19 17q11.2-12(chr17:30497948-31819040)	ASIC2, C17orf75 +8 more	Copy number loss	not specified	GUncertain significance
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	LRRC37B, CDK5R1 +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 815927	GRCh37/hg19 17q11.2(chr17:30681210-30737456)x1	ZNF207	Copy number loss	not provided	GLikely benign
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564427	GRCh37/hg19 17q11.2(chr17:30484937-31108798)x3	MYO1D, PSMD11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443455	GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1	ASIC2, C17orf75 +18 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 36