ZNF92[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	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +228 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +113 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	ABHD11, ABHD11-AS1 +350 more	Copy number loss	See cases	GPathogenic
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +349 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, AUTS2 +157 more	Copy number loss	See cases	GPathogenic
Select item 150928	GRCh38/hg38 7q11.21(chr7:65017875-65835330)x1	LINC03006, LOC123956154 +14 more	Copy number loss	See cases	GLikely benign
Select item 149763	GRCh38/hg38 7q11.21(chr7:65039433-65606012)x1	LOC129389802, LOC129389803 +3 more	Copy number loss	See cases	GLikely benign
Select item 146538	GRCh38/hg38 7q11.21(chr7:65039567-65804880)x1	LINC03006, LOC123956154 +12 more	Copy number loss	See cases	GUncertain significance
Select item 146149	GRCh38/hg38 7q11.21(chr7:65149451-65430660)x1	LOC129389803, ZNF92	Copy number loss	See cases	GBenign
Select item 150772	GRCh38/hg38 7q11.21(chr7:65149475-65414369)x1	LOC129389803, ZNF92	Copy number loss	See cases	GLikely benign
Select item 146731	GRCh38/hg38 7q11.21(chr7:65149475-65606012)x1	LOC129389803, ZNF92	Copy number loss	See cases	GBenign/Likely benign
Select item 57566	GRCh38/hg38 7q11.21(chr7:65231558-65401160)x1	ZNF92	Copy number loss	See cases	GUncertain significance
Select item 146925	GRCh38/hg38 7q11.21(chr7:65240804-65430660)x1	LOC129389803, ZNF92	Copy number loss	See cases	GBenign
Select item 3199008	NM_152626.4(ZNF92):c.76C>T (p.Arg26Trp)	ZNF92 (R26W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199009	NM_152626.4(ZNF92):c.77G>A (p.Arg26Gln)	ZNF92 (R26Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273088	NM_152626.4(ZNF92):c.183G>T (p.Glu61Asp)	ZNF92 (E61D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2368865	NM_152626.4(ZNF92):c.329A>G (p.Asn110Ser)	ZNF92 (N110S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412484	NM_152626.4(ZNF92):c.370A>G (p.Lys124Glu)	ZNF92 (K55E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488565	NM_152626.4(ZNF92):c.373G>A (p.Val125Met)	ZNF92 (V49M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512785	NM_152626.4(ZNF92):c.464A>G (p.His155Arg)	ZNF92 (H155R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199005	NM_152626.4(ZNF92):c.526A>C (p.Lys176Gln)	ZNF92 (K100Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330656	NM_152626.4(ZNF92):c.539A>C (p.Lys180Thr)	ZNF92 (K111T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316800	NM_152626.4(ZNF92):c.610G>A (p.Glu204Lys)	ZNF92 (E135K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199006	NM_152626.4(ZNF92):c.655C>T (p.His219Tyr)	ZNF92 (H143Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199007	NM_152626.4(ZNF92):c.656A>G (p.His219Arg)	ZNF92 (H143R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393870	NM_152626.4(ZNF92):c.698A>C (p.Glu233Ala)	ZNF92 (E164A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472038	NM_152626.4(ZNF92):c.770A>G (p.Tyr257Cys)	ZNF92 (Y181C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606021	NM_152626.4(ZNF92):c.841G>A (p.Glu281Lys)	ZNF92 (E205K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313888	NM_152626.4(ZNF92):c.970G>A (p.Val324Ile)	ZNF92 (V255I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540458	NM_152626.4(ZNF92):c.1021T>C (p.Tyr341His)	ZNF92 (Y272H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370010	NM_152626.4(ZNF92):c.1103C>G (p.Pro368Arg)	ZNF92 (P299R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198999	NM_152626.4(ZNF92):c.1115A>G (p.Asp372Gly)	ZNF92 (D303G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371706	NM_152626.4(ZNF92):c.1130C>G (p.Ala377Gly)	ZNF92 (A301G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241919	NM_152626.4(ZNF92):c.1147A>G (p.Thr383Ala)	ZNF92 (T307A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199000	NM_152626.4(ZNF92):c.1148C>G (p.Thr383Ser)	ZNF92 (T307S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199001	NM_152626.4(ZNF92):c.1194A>T (p.Lys398Asn)	ZNF92 (K366N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199002	NM_152626.4(ZNF92):c.1369G>A (p.Glu457Lys)	ZNF92 (E381K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293935	NM_152626.4(ZNF92):c.1490C>G (p.Thr497Ser)	ZNF92 (T428S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199003	NM_152626.4(ZNF92):c.1514A>C (p.Glu505Ala)	ZNF92 (E436A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548229	NM_152626.4(ZNF92):c.1565C>T (p.Ser522Leu)	ZNF92 (S453L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209853	NM_152626.4(ZNF92):c.1595C>A (p.Thr532Asn)	ZNF92 (T456N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383145	NM_152626.4(ZNF92):c.1678A>G (p.Thr560Ala)	ZNF92 (T491A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248793	NM_152626.4(ZNF92):c.1700A>G (p.His567Arg)	ZNF92 (H498R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199004	NM_152626.4(ZNF92):c.1738A>G (p.Thr580Ala)	ZNF92 (T504A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401234	NM_152626.4(ZNF92):c.1741A>G (p.Lys581Glu)	ZNF92 (K581E +3 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 1707421	GRCh37/hg19 7q11.21(chr7:64651626-65094968)x1	ZNF92	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1340571	GRCh37/hg19 7q11.21(chr7:64651626-66010636)x1	ASL, CRCP +4 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 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
Select item 221715	GRCh37/hg19 7q11.21(chr7:64727862-64964510)x1	ZNF92	Copy number loss	Premature ovarian failure	GBenign

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Items: 60