ZNF277[gene] - ClinVar

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Items: 71

	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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 545340	Single allele	DOCK4, DOCK4-AS1 +29 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 144370	GRCh38/hg38 7q31.1(chr7:111693844-112335449)x3	DOCK4, DOCK4-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 146458	GRCh38/hg38 7q31.1(chr7:111771934-112414850)x3	DOCK4, DOCK4-AS1 +7 more	Copy number gain	See cases	GLikely benign
Select item 2657946	NM_021994.3(ZNF277):c.-1A>G	ZNF277	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2273306	NM_021994.3(ZNF277):c.17C>T (p.Thr6Ile)	ZNF277 (T6I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206126	NM_021994.3(ZNF277):c.74G>A (p.Gly25Glu)	ZNF277 (G25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58927	GRCh38/hg38 7q31.1(chr7:112216116-112945352)x1	BMT2, IFRD1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 777630	NM_021994.3(ZNF277):c.92-7A>T	ZNF277	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 777631	NM_021994.3(ZNF277):c.92-4C>T	ZNF277	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2395623	NM_021994.3(ZNF277):c.118C>T (p.Leu40Phe)	ZNF277 (L40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209553	NM_021994.3(ZNF277):c.143G>A (p.Gly48Asp)	ZNF277 (G48D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256209	NM_021994.3(ZNF277):c.161G>A (p.Gly54Asp)	ZNF277 (G54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194836	NM_021994.3(ZNF277):c.305A>T (p.Tyr102Phe)	ZNF277 (Y102F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403114	NM_021994.3(ZNF277):c.374C>G (p.Ala125Gly)	ZNF277 (A125G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657947	NM_021994.3(ZNF277):c.391G>A (p.Glu131Lys)	ZNF277 (E131K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2468342	NM_021994.3(ZNF277):c.436C>T (p.Leu146Phe)	ZNF277 (L146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335337	NM_021994.3(ZNF277):c.437T>A (p.Leu146His)	ZNF277 (L146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157510	NM_021994.3(ZNF277):c.466-2289_557+1772del	ZNF277	Deletion (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2657948	NM_021994.3(ZNF277):c.495A>G (p.Glu165=)	ZNF277	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713971	NM_021994.3(ZNF277):c.505dup (p.Thr169fs)	ZNF277 (T169fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 2381733	NM_021994.3(ZNF277):c.509A>G (p.Asn170Ser)	ZNF277 (N170S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213603	NM_021994.3(ZNF277):c.742C>T (p.His248Tyr)	ZNF277, ZNF277-AS1 (H248Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512451	NM_021994.3(ZNF277):c.758C>G (p.Pro253Arg)	ZNF277, ZNF277-AS1 (P253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269443	NM_021994.3(ZNF277):c.838G>T (p.Asp280Tyr)	ZNF277, ZNF277-AS1 (D280Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353258	NM_021994.3(ZNF277):c.875G>C (p.Trp292Ser)	ZNF277, ZNF277-AS1 (W292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333618	NM_021994.3(ZNF277):c.904G>T (p.Ala302Ser)	ZNF277, ZNF277-AS1 (A302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335334	NM_021994.3(ZNF277):c.923A>C (p.Glu308Ala)	ZNF277, ZNF277-AS1 (E308A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335336	NM_021994.3(ZNF277):c.967G>T (p.Asp323Tyr)	ZNF277, ZNF277-AS1 (D323Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300872	NM_021994.3(ZNF277):c.979T>C (p.Phe327Leu)	ZNF277, ZNF277-AS1 (F327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335338	NM_021994.3(ZNF277):c.993A>T (p.Lys331Asn)	ZNF277, ZNF277-AS1 (K331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335333	NM_021994.3(ZNF277):c.1052G>A (p.Arg351Gln)	ZNF277, ZNF277-AS1 (R351Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194835	NM_021994.3(ZNF277):c.1074A>T (p.Arg358Ser)	ZNF277, ZNF277-AS1 (R358S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408176	NM_021994.3(ZNF277):c.1135A>G (p.Thr379Ala)	ZNF277, ZNF277-AS1 (T379A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2657949	NM_021994.3(ZNF277):c.1170G>A (p.Thr390=)	ZNF277, ZNF277-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3335335	NM_021994.3(ZNF277):c.1297A>C (p.Thr433Pro)	ZNF277, ZNF277-AS1 (T433P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062952	GRCh37/hg19 7q31.1(chr7:111340222-113515460)x3	BMT2, DOCK4 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2685262	GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)x1	TES, TFEC +20 more	Copy number loss	not provided	GPathogenic
Select item 1802518	GRCh37/hg19 7q31.1(chr7:111753333-112016056)x1	DOCK4, ZNF277	Copy number loss	not provided	Gnot provided
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 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1340162	GRCh37/hg19 7q31.1(chr7:111609961-113375421)x3	BMT2, DOCK4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 979638	GRCh37/hg19 7q31.1(chr7:111724684-112064238)x3	DOCK4, IFRD1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815022	GRCh37/hg19 7q31.1(chr7:111823490-111938673)x1	DOCK4, ZNF277	Copy number loss	not provided	GUncertain significance
Select item 815021	GRCh37/hg19 7q31.1(chr7:111642645-111873378)x1	DOCK4, ZNF277	Copy number loss	not provided	GUncertain significance
Select item 815018	GRCh37/hg19 7q31.1(chr7:109594999-113885203)x3	LSMEM1, BMT2 +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 689016	GRCh37/hg19 7q31.1(chr7:109939104-113649529)x1	BMT2, DOCK4 +8 more	Copy number loss	not provided	GUncertain significance
Select item 688695	GRCh37/hg19 7q31.1(chr7:111772148-111869174)x1	DOCK4, ZNF277	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 686475	GRCh37/hg19 7q31.1(chr7:107786826-112356275)x1	DNAJB9, DOCK4 +9 more	Copy number loss	not provided	GUncertain significance
Select item 686057	GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1	ASZ1, BMT2 +34 more	Copy number loss	not provided	GPathogenic
Select item 635931	Single allele	BMT2, DOCK4 +7 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563369	GRCh37/hg19 7q31.1(chr7:111303344-111922531)x1	ZNF277, DOCK4	Copy number loss	not provided	GUncertain significance
Select item 563279	GRCh37/hg19 7q31.1(chr7:111932195-111992832)x1	ZNF277	Copy number loss	not provided	GUncertain significance
Select item 443343	GRCh37/hg19 7q31.1(chr7:110322161-112423237)x3	DOCK4, IFRD1 +5 more	Copy number gain	See cases	GUncertain significance
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 442638	GRCh37/hg19 7q31.1(chr7:111903631-112132722)x1	IFRD1, LSMEM1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 441861	GRCh37/hg19 7q31.1-31.2(chr7:111642645-115770275)x1	BMT2, DOCK4 +9 more	Copy number loss	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395475	GRCh37/hg19 7q31.1(chr7:111647224-112063278)x1	DOCK4, IFRD1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	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: 71