ClinVar for Gene (Select 168374) - ClinVar

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

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2606021	NM_152626.4(ZNF92):c.841G>A (p.Glu281Lys)	ZNF92 (E205K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548229	NM_152626.4(ZNF92):c.1565C>T (p.Ser522Leu)	ZNF92 (S453L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540458	NM_152626.4(ZNF92):c.1021T>C (p.Tyr341His)	ZNF92 (Y272H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512785	NM_152626.4(ZNF92):c.464A>G (p.His155Arg)	ZNF92 (H155R +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)	Inborn genetic diseases	GUncertain significance
Select item 2472038	NM_152626.4(ZNF92):c.770A>G (p.Tyr257Cys)	ZNF92 (Y181C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2401234	NM_152626.4(ZNF92):c.1741A>G (p.Lys581Glu)	ZNF92 (K581E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393870	NM_152626.4(ZNF92):c.698A>C (p.Glu233Ala)	ZNF92 (E164A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383145	NM_152626.4(ZNF92):c.1678A>G (p.Thr560Ala)	ZNF92 (T491A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371706	NM_152626.4(ZNF92):c.1130C>G (p.Ala377Gly)	ZNF92 (A301G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370010	NM_152626.4(ZNF92):c.1103C>G (p.Pro368Arg)	ZNF92 (P299R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368865	NM_152626.4(ZNF92):c.329A>G (p.Asn110Ser)	ZNF92 (N110S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330656	NM_152626.4(ZNF92):c.539A>C (p.Lys180Thr)	ZNF92 (K111T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316800	NM_152626.4(ZNF92):c.610G>A (p.Glu204Lys)	ZNF92 (E135K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313888	NM_152626.4(ZNF92):c.970G>A (p.Val324Ile)	ZNF92 (V255I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293935	NM_152626.4(ZNF92):c.1490C>G (p.Thr497Ser)	ZNF92 (T428S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2248793	NM_152626.4(ZNF92):c.1700A>G (p.His567Arg)	ZNF92 (H498R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241919	NM_152626.4(ZNF92):c.1147A>G (p.Thr383Ala)	ZNF92 (T307A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209853	NM_152626.4(ZNF92):c.1595C>A (p.Thr532Asn)	ZNF92 (T456N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +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
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998532, LOC129998533 +350 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	LOC129998632, LOC129998633 +349 more	Copy number gain	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 150772	GRCh38/hg38 7q11.21(chr7:65149475-65414369)x1	LOC129389803, ZNF92	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 146925	GRCh38/hg38 7q11.21(chr7:65240804-65430660)x1	LOC129389803, ZNF92	Copy number loss	See cases	GBenign
Select item 146731	GRCh38/hg38 7q11.21(chr7:65149475-65606012)x1	LOC129389803, ZNF92	Copy number loss	See cases	GBenign/Likely 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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +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 57566	GRCh38/hg38 7q11.21(chr7:65231558-65401160)x1	ZNF92	Copy number loss	See cases	GUncertain significance
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 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, AUTS2 +157 more	Copy number loss	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

Links from Gene

Items: 49