ClinVar for Gene (Select 65243) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334523	NM_023070.3(ZFP69B):c.44C>T (p.Thr15Ile)	LOC126805713, ZFP69B (T15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334522	NM_023070.3(ZFP69B):c.161G>A (p.Gly54Asp)	ZFP69B (G54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334521	NM_023070.3(ZFP69B):c.409A>G (p.Arg137Gly)	ZFP69B (R137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247914	NC_000001.10:g.(?_40782775)_(40981338_?)dup	COL9A2, EXO5 +3 more	Duplication	not provided	GUncertain significance
Select item 3193207	NM_023070.3(ZFP69B):c.694A>G (p.Ile232Val)	ZFP69B (I232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193205	NM_023070.3(ZFP69B):c.485T>G (p.Ile162Ser)	ZFP69B (I162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193204	NM_023070.3(ZFP69B):c.416T>C (p.Ile139Thr)	ZFP69B (I139T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193203	NM_023070.3(ZFP69B):c.383A>G (p.Lys128Arg)	ZFP69B (K128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193202	NM_023070.3(ZFP69B):c.268C>A (p.Gln90Lys)	ZFP69B (Q90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193200	NM_023070.3(ZFP69B):c.1289A>G (p.His430Arg)	ZFP69B (H430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025218	NM_023070.3(ZFP69B):c.341-8A>G	ZFP69B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, GUCA2A +20 more	Copy number loss	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2621151	NM_023070.3(ZFP69B):c.275C>A (p.Ala92Asp)	ZFP69B (A92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618704	NM_023070.3(ZFP69B):c.928A>G (p.Lys310Glu)	ZFP69B (K310E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599559	NM_023070.3(ZFP69B):c.518T>C (p.Met173Thr)	ZFP69B (M173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543982	NM_023070.3(ZFP69B):c.967A>G (p.Ile323Val)	ZFP69B (I323V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543981	NM_023070.3(ZFP69B):c.359C>T (p.Pro120Leu)	ZFP69B (P120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539996	NM_023070.3(ZFP69B):c.542G>A (p.Ser181Asn)	ZFP69B (S181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531810	NM_023070.3(ZFP69B):c.59G>A (p.Arg20His)	LOC126805713, ZFP69B (R20H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520940	NM_023070.3(ZFP69B):c.1162G>A (p.Glu388Lys)	ZFP69B (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517507	NM_023070.3(ZFP69B):c.1574A>C (p.His525Pro)	ZFP69B (H525P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478946	NM_023070.3(ZFP69B):c.1316G>A (p.Arg439Lys)	ZFP69B (R439K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475337	NM_023070.3(ZFP69B):c.299G>A (p.Arg100Gln)	ZFP69B (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403715	NM_023070.3(ZFP69B):c.636G>A (p.Met212Ile)	ZFP69B (M212I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367984	NM_023070.3(ZFP69B):c.1529A>T (p.Lys510Ile)	ZFP69B (K510I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348001	NM_023070.3(ZFP69B):c.608G>T (p.Arg203Ile)	ZFP69B (R203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347860	NM_023070.3(ZFP69B):c.494A>G (p.Glu165Gly)	ZFP69B (E165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342891	NM_023070.3(ZFP69B):c.980G>T (p.Arg327Ile)	ZFP69B (R327I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314819	NM_023070.3(ZFP69B):c.1093T>G (p.Cys365Gly)	ZFP69B (C365G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287565	NM_023070.3(ZFP69B):c.1225C>T (p.His409Tyr)	ZFP69B (H409Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260054	NM_023070.3(ZFP69B):c.884C>T (p.Thr295Ile)	ZFP69B (T295I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223084	NM_023070.3(ZFP69B):c.364G>A (p.Val122Met)	ZFP69B (V122M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207223	NM_023070.3(ZFP69B):c.1256A>G (p.Tyr419Cys)	ZFP69B (Y419C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808029	GRCh37/hg19 1p34.2(chr1:40758393-41009559)x1	COL9A2, EXO5 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 773395	NM_023070.3(ZFP69B):c.896G>A (p.Arg299Lys)	ZFP69B (R299K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46