ZNF215[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 3194412	NM_013250.4(ZNF215):c.38C>G (p.Pro13Arg)	ZNF215 (P13R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 787901	NM_013250.4(ZNF215):c.112G>A (p.Val38Ile)	ZNF215 (V38I)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2592828	NM_013250.4(ZNF215):c.182G>A (p.Gly61Glu)	ZNF215 (G61E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194408	NM_013250.4(ZNF215):c.194C>T (p.Ala65Val)	ZNF215 (A65V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194409	NM_013250.4(ZNF215):c.213G>T (p.Glu71Asp)	ZNF215 (E71D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2250488	NM_013250.4(ZNF215):c.214C>T (p.Leu72Phe)	ZNF215 (L72F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490831	NM_013250.4(ZNF215):c.295A>T (p.Ile99Phe)	ZNF215 (I99F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333382	NM_013250.4(ZNF215):c.298C>G (p.Leu100Val)	ZNF215 (L100V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244084	NM_013250.4(ZNF215):c.326A>C (p.Asn109Thr)	ZNF215 (N109T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194410	NM_013250.4(ZNF215):c.332A>G (p.Gln111Arg)	ZNF215 (Q111R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 787902	NM_013250.4(ZNF215):c.356T>C (p.Met119Thr)	ZNF215 (M119T)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2641571	NM_013250.4(ZNF215):c.366C>T (p.Leu122=)	ZNF215	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3194411	NM_013250.4(ZNF215):c.380T>C (p.Ile127Thr)	ZNF215 (I127T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194413	NM_013250.4(ZNF215):c.403A>G (p.Met135Val)	ZNF215 (M135V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362097	NM_013250.4(ZNF215):c.478C>T (p.Pro160Ser)	ZNF215 (P160S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2610700	NM_013250.4(ZNF215):c.539A>T (p.Gln180Leu)	ZNF215 (Q180L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194414	NM_013250.4(ZNF215):c.622C>G (p.Leu208Val)	ZNF215 (L208V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2456728	NM_013250.4(ZNF215):c.710T>C (p.Phe237Ser)	ZNF215 (F11S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 726100	NM_013250.4(ZNF215):c.712+1G>A	ZNF215	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely benign
Select item 3194415	NM_013250.4(ZNF215):c.770C>A (p.Thr257Asn)	ZNF215 (T31N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710353	NM_013250.4(ZNF215):c.776G>A (p.Ser259Asn)	ZNF215 (S259N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2408758	NM_013250.4(ZNF215):c.777T>G (p.Ser259Arg)	ZNF215 (S21R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597125	NM_013250.4(ZNF215):c.815G>C (p.Trp272Ser)	ZNF215 (W272S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537414	NM_013250.4(ZNF215):c.824G>C (p.Arg275Thr)	ZNF215 (R275T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335148	NM_013250.4(ZNF215):c.862G>C (p.Ala288Pro)	ZNF215 (A288P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611803	NM_013250.4(ZNF215):c.887C>A (p.Thr296Asn)	ZNF215 (T296N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782124	NM_013250.4(ZNF215):c.901T>C (p.Phe301Leu)	ZNF215 (F75L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2376430	NM_013250.4(ZNF215):c.943G>T (p.Val315Phe)	ZNF215 (V77F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484717	NM_013250.4(ZNF215):c.994C>G (p.Pro332Ala)	ZNF215 (P106A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240345	NM_013250.4(ZNF215):c.1004A>G (p.Asp335Gly)	ZNF215 (D97G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194403	NM_013250.4(ZNF215):c.1076A>G (p.Asn359Ser)	ZNF215 (N121S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709933	NM_013250.4(ZNF215):c.1117C>A (p.His373Asn)	ZNF215 (H135N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3194405	NM_013250.4(ZNF215):c.1130A>G (p.Asn377Ser)	ZNF215 (N139S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252027	NM_013250.4(ZNF215):c.1169G>A (p.Arg390Gln)	ZNF215 (R390Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550395	NM_013250.4(ZNF215):c.1247T>G (p.Phe416Cys)	ZNF215 (F178C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194406	NM_013250.4(ZNF215):c.1306A>G (p.Thr436Ala)	ZNF215 (T198A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194407	NM_013250.4(ZNF215):c.1463A>T (p.Lys488Ile)	ZNF215 (K262I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335147	NM_013250.4(ZNF215):c.1487G>A (p.Ser496Asn)	ZNF215 (S258N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2483906	NM_013250.4(ZNF215):c.1531C>A (p.Leu511Met)	ZNF215 (L511M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684635	GRCh37/hg19 11p15.4(chr11:6801941-7136661)x3	NLRP14, OR10A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1808803	GRCh37/hg19 11p15.4(chr11:6943254-7051084)x3	NLRP14, ZNF214 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1340891	GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3	ARFIP2, DCHS1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815405	GRCh37/hg19 11p15.4(chr11:6890900-6969676)x1	ZNF215, OR10A2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 686332	GRCh37/hg19 11p15.4(chr11:6908898-7058885)x1	NLRP14, OR2D2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 685522	GRCh37/hg19 11p15.4(chr11:6754444-6982365)x1	OR10A2, OR10A4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 666458	GRCh37/hg19 11p15.4(chr11:6851550-6984119)x1	OR10A2, OR10A4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 563821	GRCh37/hg19 11p15.4(chr11:6905914-7062692)x1	ZNF215, OR2D3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 63