ZNF273[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +114 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, GALNT17 +158 more	Copy number loss	See cases	GPathogenic
Select item 152092	GRCh38/hg38 7q11.21(chr7:64813121-64939543)x3	LOC116183090, ZNF138 +1 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 153326	GRCh38/hg38 7q11.21(chr7:64879046-65086621)x1	ERV3-1, ERV3-1-ZNF117 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2356701	NM_021148.3(ZNF273):c.8C>G (p.Ser3Cys)	ZNF273 (S3C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3335309	NM_021148.3(ZNF273):c.86C>A (p.Pro29His)	ZNF273 (P29H)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3194808	NM_021148.3(ZNF273):c.238G>A (p.Val80Ile)	ZNF273 (V15I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209539	NM_021148.3(ZNF273):c.290A>T (p.Asn97Ile)	ZNF273 (N32I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335308	NM_021148.3(ZNF273):c.320C>T (p.Pro107Leu)	ZNF273 (P107L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367985	NM_021148.3(ZNF273):c.332G>A (p.Cys111Tyr)	ZNF273 (C111Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335311	NM_021148.3(ZNF273):c.413A>T (p.Lys138Ile)	ZNF273 (K138I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221413	NM_021148.3(ZNF273):c.425A>G (p.Glu142Gly)	ZNF273 (E45G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194809	NM_021148.3(ZNF273):c.613C>G (p.Pro205Ala)	ZNF273 (P108A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194810	NM_021148.3(ZNF273):c.643T>G (p.Cys215Gly)	ZNF273 (C150G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344249	NM_021148.3(ZNF273):c.644G>A (p.Cys215Tyr)	ZNF273 (C150Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379527	NM_021148.3(ZNF273):c.710A>G (p.Lys237Arg)	ZNF273 (K237R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242121	NM_021148.3(ZNF273):c.717T>G (p.Cys239Trp)	ZNF273 (C142W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332665	NM_021148.3(ZNF273):c.732C>A (p.Asn244Lys)	ZNF273 (N179K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617719	NM_021148.3(ZNF273):c.752A>T (p.Lys251Ile)	ZNF273 (K154I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544244	NM_021148.3(ZNF273):c.818A>G (p.Gln273Arg)	ZNF273 (Q176R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226594	NM_021148.3(ZNF273):c.848T>G (p.Ile283Ser)	ZNF273 (I186S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276223	NM_021148.3(ZNF273):c.943A>G (p.Thr315Ala)	ZNF273 (T250A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518038	NM_021148.3(ZNF273):c.977G>C (p.Gly326Ala)	ZNF273 (G229A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335316	NM_021148.3(ZNF273):c.1036T>C (p.Tyr346His)	ZNF273 (Y346H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599244	NM_021148.3(ZNF273):c.1099A>G (p.Ile367Val)	ZNF273 (I367V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335310	NM_021148.3(ZNF273):c.1103A>G (p.His368Arg)	ZNF273 (H303R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371691	NM_021148.3(ZNF273):c.1159T>G (p.Ser387Ala)	ZNF273 (S290A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335315	NM_021148.3(ZNF273):c.1169C>G (p.Thr390Ser)	ZNF273 (T325S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293016	NM_021148.3(ZNF273):c.1211G>A (p.Cys404Tyr)	ZNF273 (C339Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681663	NM_021148.3(ZNF273):c.1224T>C (p.Gly408=)	ZNF273	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2493156	NM_021148.3(ZNF273):c.1228G>C (p.Ala410Pro)	ZNF273 (A313P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194805	NM_021148.3(ZNF273):c.1306G>A (p.Gly436Arg)	ZNF273 (G371R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332366	NM_021148.3(ZNF273):c.1337C>T (p.Thr446Ile)	ZNF273 (T349I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538835	NM_021148.3(ZNF273):c.1505C>A (p.Thr502Asn)	ZNF273 (T502N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587970	NM_021148.3(ZNF273):c.1517G>A (p.Arg506Lys)	ZNF273 (R506K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475447	NM_021148.3(ZNF273):c.1520T>C (p.Ile507Thr)	ZNF273 (I410T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335314	NM_021148.3(ZNF273):c.1523A>C (p.His508Pro)	ZNF273 (H443P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335317	NM_021148.3(ZNF273):c.1592G>A (p.Arg531Gln)	ZNF273 (R434Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194806	NM_021148.3(ZNF273):c.1598A>G (p.Lys533Arg)	ZNF273 (K436R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335312	NM_021148.3(ZNF273):c.1616A>C (p.Glu539Ala)	ZNF273 (E442A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335313	NM_021148.3(ZNF273):c.1617G>T (p.Glu539Asp)	ZNF273 (E474D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194807	NM_021148.3(ZNF273):c.1661C>T (p.Thr554Ile)	ZNF273 (T554I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247981	NM_021148.3(ZNF273):c.1685G>T (p.Arg562Ile)	ZNF273 (R497I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1340473	GRCh37/hg19 7q11.21(chr7:64052765-64651336)x1	ERV3-1, ZNF107 +3 more	Copy number loss	not provided	GUncertain significance
Select item 983155	GRCh37/hg19 7q11.21(chr7:62495083-64927758)x1	ERV3-1, ZNF107 +9 more	Copy number loss	See cases	GUncertain significance
Select item 980823	GRCh37/hg19 7q11.21(chr7:62508852-64940346)x1	ERV3-1, ZNF107 +9 more	Copy number loss	not provided	GUncertain significance
Select item 687667	GRCh37/hg19 7q11.21(chr7:63903253-64426719)x4	ZNF107, ZNF138 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 443521	GRCh37/hg19 7q11.21-11.22(chr7:63583563-71047246)x1	ASL, AUTS2 +20 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 60