ClinVar for Gene (Select 284695) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335478	NM_182976.4(ZNF326):c.338G>A (p.Ser113Asn)	ZNF326 (S113N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335477	NM_182976.4(ZNF326):c.336G>C (p.Glu112Asp)	ZNF326 (E112D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335476	NM_182976.4(ZNF326):c.284T>A (p.Phe95Tyr)	ZNF326 (F95Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335475	NM_182976.4(ZNF326):c.238A>G (p.Arg80Gly)	ZNF326 (R80G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335474	NM_182976.4(ZNF326):c.458A>G (p.Asn153Ser)	ZNF326 (N153S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335473	NM_182976.4(ZNF326):c.1152A>G (p.Ile384Met)	ZNF326 (I295M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195173	NM_182976.4(ZNF326):c.995A>G (p.Glu332Gly)	ZNF326 (E332G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195172	NM_182976.4(ZNF326):c.548G>A (p.Ser183Asn)	ZNF326 (S94N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195171	NM_182976.4(ZNF326):c.1379C>T (p.Ala460Val)	ZNF326 (A254V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195170	NM_182976.4(ZNF326):c.1297G>C (p.Gly433Arg)	ZNF326 (G227R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195168	NM_182976.4(ZNF326):c.10G>A (p.Glu4Lys)	ZNF326 (E4K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685809	GRCh37/hg19 1p22.2(chr1:88895486-91863052)x3	BARHL2, GBP1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2685499	GRCh37/hg19 1p22.3-22.2(chr1:87511398-90730302)x1	GBP1, GBP2 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2619019	NM_182976.4(ZNF326):c.1718A>T (p.Asp573Val)	ZNF326 (D573V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618525	NM_182976.4(ZNF326):c.79G>A (p.Gly27Ser)	ZNF326 (G27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615348	NM_182976.4(ZNF326):c.569A>G (p.Tyr190Cys)	ZNF326 (Y101C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610701	NM_182976.4(ZNF326):c.1282C>T (p.Pro428Ser)	ZNF326 (P339S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558414	NM_182976.4(ZNF326):c.1202A>G (p.Lys401Arg)	ZNF326 (K401R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554133	NM_182976.4(ZNF326):c.1448T>C (p.Ile483Thr)	ZNF326 (I394T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549856	NM_182976.4(ZNF326):c.869G>A (p.Arg290Gln)	ZNF326 (R201Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474932	NM_182976.4(ZNF326):c.865C>T (p.Arg289Trp)	ZNF326 (R200W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459242	NM_182976.4(ZNF326):c.749G>A (p.Gly250Glu)	ZNF326 (G250E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344600	NM_182976.4(ZNF326):c.1454G>T (p.Gly485Val)	ZNF326 (G279V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341310	NM_182976.4(ZNF326):c.128A>G (p.Tyr43Cys)	ZNF326 (Y43C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325049	NM_182976.4(ZNF326):c.1209G>C (p.Glu403Asp)	ZNF326 (E197D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310795	NM_182976.4(ZNF326):c.393C>A (p.Ser131Arg)	ZNF326 (S131R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252223	NM_182976.4(ZNF326):c.1669G>A (p.Glu557Lys)	ZNF326 (E557K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238903	NM_182976.4(ZNF326):c.683A>G (p.Asn228Ser)	ZNF326 (N228S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213471	NM_182976.4(ZNF326):c.41A>G (p.Asn14Ser)	ZNF326 (N14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208481	NM_182976.4(ZNF326):c.719A>G (p.Lys240Arg)	ZNF326 (K151R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 686296	GRCh37/hg19 1p22.2(chr1:89546802-90520362)x1	GBP2, GBP4 +7 more	Copy number loss	not provided	GUncertain significance
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 565121	GRCh37/hg19 1p22.2(chr1:90259613-90631849)x3	ZNF326, LRRC8D	Copy number gain	not provided	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 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 38