ClinVar for Gene (Select 7761) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335146	NM_013249.4(ZNF214):c.893T>G (p.Ile298Arg)	ZNF214 (I309R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335145	NM_013249.4(ZNF214):c.1528C>T (p.Arg510Cys)	ZNF214 (R510C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194402	NM_013249.4(ZNF214):c.856C>A (p.Gln286Lys)	ZNF214 (Q272K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194401	NM_013249.4(ZNF214):c.451G>A (p.Gly151Ser)	ZNF214 (G162S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194400	NM_013249.4(ZNF214):c.262C>G (p.Gln88Glu)	ZNF214 (Q99E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194399	NM_013249.4(ZNF214):c.247T>C (p.Tyr83His)	ZNF214 (Y83H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194398	NM_013249.4(ZNF214):c.1551G>T (p.Gln517His)	ZNF214 (Q517H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194396	NM_013249.4(ZNF214):c.1105C>T (p.Arg369Trp)	ZNF214 (R355W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194395	NM_013249.4(ZNF214):c.102G>C (p.Glu34Asp)	ZNF214 (E45D +2 more)	Single nucleotide variant (missense variant)	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 2641572	NM_013249.4(ZNF214):c.594A>G (p.Pro198=)	ZNF214	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605196	NM_013249.4(ZNF214):c.1373G>A (p.Arg458His)	ZNF214 (R444H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597378	NM_013249.4(ZNF214):c.1711A>C (p.Ile571Leu)	ZNF214 (I582L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595956	NM_013249.4(ZNF214):c.484T>C (p.Phe162Leu)	ZNF214 (F148L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536586	NM_013249.4(ZNF214):c.1463A>G (p.His488Arg)	ZNF214 (H499R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535773	NM_013249.4(ZNF214):c.686A>G (p.Tyr229Cys)	ZNF214 (Y215C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2494908	NM_013249.4(ZNF214):c.11C>T (p.Thr4Ile)	ZNF214 (T15I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405170	NM_013249.4(ZNF214):c.1739A>T (p.Lys580Ile)	ZNF214 (K580I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395172	NM_013249.4(ZNF214):c.1754G>A (p.Arg585His)	ZNF214 (R571H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377028	NM_013249.4(ZNF214):c.1691G>C (p.Ser564Thr)	ZNF214 (S550T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373160	NM_013249.4(ZNF214):c.223G>A (p.Ala75Thr)	ZNF214 (A61T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364472	NM_013249.4(ZNF214):c.400A>G (p.Lys134Glu)	ZNF214 (K120E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361808	NM_013249.4(ZNF214):c.100G>C (p.Glu34Gln)	ZNF214 (E34Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339456	NM_013249.4(ZNF214):c.1559A>G (p.His520Arg)	ZNF214 (H506R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334048	NM_013249.4(ZNF214):c.1802A>T (p.His601Leu)	ZNF214 (H587L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325418	NM_013249.4(ZNF214):c.1061G>T (p.Gly354Val)	ZNF214 (G354V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315808	NM_013249.4(ZNF214):c.1294C>A (p.His432Asn)	ZNF214 (H418N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289669	NM_013249.4(ZNF214):c.697C>T (p.Arg233Trp)	ZNF214 (R233W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267323	NM_013249.4(ZNF214):c.1418C>T (p.Pro473Leu)	ZNF214 (P473L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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
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

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Links from Gene

Items: 49