ClinVar for Gene (Select 57209) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3474822	NM_021045.3(ZNF248):c.673G>C (p.Asp225His)	ZNF248 (D81H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3474821	NM_021045.3(ZNF248):c.722T>C (p.Val241Ala)	ZNF248 (V241A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3474820	NM_021045.3(ZNF248):c.410A>G (p.Tyr137Cys)	ZNF248 (Y137C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3474819	NM_021045.3(ZNF248):c.947A>C (p.Gln316Pro)	ZNF248 (Q316P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335247	NM_021045.3(ZNF248):c.595A>G (p.Ile199Val)	ZNF248 (I199V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335246	NM_021045.3(ZNF248):c.920G>A (p.Cys307Tyr)	ZNF248 (C307Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335245	NM_021045.3(ZNF248):c.884A>G (p.Asn295Ser)	ZNF248 (N295S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194661	NM_021045.3(ZNF248):c.94C>G (p.Leu32Val)	ZNF248 (L32V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194660	NM_021045.3(ZNF248):c.821T>G (p.Ile274Ser)	ZNF248 (I130S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194659	NM_021045.3(ZNF248):c.759A>C (p.Glu253Asp)	ZNF248 (E109D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194658	NM_021045.3(ZNF248):c.685T>G (p.Phe229Val)	ZNF248 (F229V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194657	NM_021045.3(ZNF248):c.581A>G (p.Gln194Arg)	ZNF248 (Q194R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194656	NM_021045.3(ZNF248):c.575A>G (p.Tyr192Cys)	ZNF248 (Y192C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194655	NM_021045.3(ZNF248):c.497A>T (p.Asp166Val)	ZNF248 (D166V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194654	NM_021045.3(ZNF248):c.337G>C (p.Val113Leu)	ZNF248 (V113L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194653	NM_021045.3(ZNF248):c.262G>A (p.Val88Met)	ZNF248 (V88M)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3194652	NM_021045.3(ZNF248):c.209A>T (p.Glu70Val)	ZNF248 (E70V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194651	NM_021045.3(ZNF248):c.1681T>C (p.Ser561Pro)	ZNF248 (S417P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194650	NM_021045.3(ZNF248):c.1653T>A (p.Asn551Lys)	ZNF248 (N407K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2512929	NM_021045.3(ZNF248):c.898A>C (p.Asn300His)	ZNF248 (N156H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492728	NM_021045.3(ZNF248):c.187G>A (p.Gly63Arg)	ZNF248 (G63R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483947	NM_021045.3(ZNF248):c.1445A>G (p.His482Arg)	ZNF248 (H338R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474982	NM_021045.3(ZNF248):c.1132A>C (p.Lys378Gln)	ZNF248 (K378Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399139	NM_021045.3(ZNF248):c.718A>G (p.Thr240Ala)	ZNF248 (T240A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316797	NM_021045.3(ZNF248):c.761G>A (p.Ser254Asn)	ZNF248 (S254N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314043	NM_021045.3(ZNF248):c.1123A>G (p.Thr375Ala)	ZNF248 (T231A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305142	NM_021045.3(ZNF248):c.1009T>C (p.Ser337Pro)	ZNF248 (S193P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290207	NM_021045.3(ZNF248):c.235C>G (p.Pro79Ala)	ZNF248 (P79A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2288251	NM_021045.3(ZNF248):c.619C>A (p.Gln207Lys)	ZNF248 (Q207K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251663	NM_021045.3(ZNF248):c.337G>T (p.Val113Leu)	ZNF248 (V113L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2251662	NM_021045.3(ZNF248):c.310C>G (p.Leu104Val)	ZNF248 (L104V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225600	NM_021045.3(ZNF248):c.1652A>C (p.Asn551Thr)	ZNF248 (N407T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527582	GRCh37/hg19 10p11.21-11.1(chr10:37697888-38677334)	MTRNR2L7, ZNF248 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 815339	GRCh37/hg19 10p11.1(chr10:38064033-38900673)x3	ZNF37A, ZNF248 +2 more	Copy number gain	not provided	GLikely benign
Select item 815338	GRCh37/hg19 10p11.21-11.1(chr10:37189335-38900673)x3	ZNF37A, ZNF25 +4 more	Copy number gain	not provided	GLikely benign
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic
Select item 563782	GRCh37/hg19 10p11.21-11.1(chr10:36797203-38900673)x3	MTRNR2L7, ANKRD30A +4 more	Copy number gain	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46