ClinVar for Gene (Select 7643) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259870	NM_007138.2(ZNF90):c.339A>T (p.Leu113Phe)	ZNF90 (L113F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3259869	NM_007138.2(ZNF90):c.361G>C (p.Asp121His)	ZNF90 (D121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259868	NM_007138.2(ZNF90):c.1720T>G (p.Phe574Val)	ZNF90 (F574V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259867	NM_007138.2(ZNF90):c.1586T>G (p.Ile529Arg)	ZNF90 (I529R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259866	NM_007138.2(ZNF90):c.685T>C (p.Tyr229His)	ZNF90 (Y229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259865	NM_007138.2(ZNF90):c.253C>A (p.Leu85Ile)	ZNF90 (L85I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259862	NM_007138.2(ZNF90):c.22G>T (p.Asp8Tyr)	ZNF90 (D8Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259861	NM_007138.2(ZNF90):c.1783G>A (p.Val595Met)	ZNF90 (V595M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259860	NM_007138.2(ZNF90):c.193G>T (p.Val65Leu)	ZNF90 (V65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259859	NM_007138.2(ZNF90):c.562C>G (p.Leu188Val)	ZNF90 (L188V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198980	NM_007138.2(ZNF90):c.998G>T (p.Arg333Ile)	ZNF90 (R333I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198979	NM_007138.2(ZNF90):c.824A>G (p.His275Arg)	ZNF90 (H275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198978	NM_007138.2(ZNF90):c.7C>T (p.Pro3Ser)	ZNF90 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198976	NM_007138.2(ZNF90):c.725C>T (p.Ser242Phe)	ZNF90 (S242F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198975	NM_007138.2(ZNF90):c.725C>A (p.Ser242Tyr)	ZNF90 (S242Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198974	NM_007138.2(ZNF90):c.652T>G (p.Ser218Ala)	ZNF90 (S218A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198973	NM_007138.2(ZNF90):c.535G>A (p.Gly179Ser)	ZNF90 (G179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198972	NM_007138.2(ZNF90):c.514C>G (p.Pro172Ala)	ZNF90 (P172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198971	NM_007138.2(ZNF90):c.488A>G (p.His163Arg)	ZNF90 (H163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198969	NM_007138.2(ZNF90):c.1750A>G (p.Lys584Glu)	ZNF90 (K584E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198968	NM_007138.2(ZNF90):c.1558C>T (p.Arg520Cys)	ZNF90 (R520C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198967	NM_007138.2(ZNF90):c.1222C>A (p.Arg408Ser)	ZNF90 (R408S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2607577	NM_007138.2(ZNF90):c.911A>G (p.Lys304Arg)	ZNF90 (K304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602336	NM_007138.2(ZNF90):c.746G>T (p.Arg249Ile)	ZNF90 (R249I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599404	NM_007138.2(ZNF90):c.1642C>T (p.Arg548Cys)	ZNF90 (R548C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559615	NM_007138.2(ZNF90):c.109T>A (p.Tyr37Asn)	ZNF90 (Y37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548998	NM_007138.2(ZNF90):c.220T>C (p.Ser74Pro)	ZNF90 (S74P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532037	NM_007138.2(ZNF90):c.731T>G (p.Leu244Arg)	ZNF90 (L244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530554	NM_007138.2(ZNF90):c.1151T>C (p.Leu384Pro)	ZNF90 (L384P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523942	NM_007138.2(ZNF90):c.1307G>A (p.Arg436His)	ZNF90 (R436H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508604	NM_007138.2(ZNF90):c.1505T>C (p.Ile502Thr)	ZNF90 (I502T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496021	NM_007138.2(ZNF90):c.487C>A (p.His163Asn)	ZNF90 (H163N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492115	NM_007138.2(ZNF90):c.184C>G (p.Pro62Ala)	ZNF90 (P62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482143	NM_007138.2(ZNF90):c.1741A>G (p.Asn581Asp)	ZNF90 (N581D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462651	NM_007138.2(ZNF90):c.1321A>G (p.Ser441Gly)	ZNF90 (S441G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458448	NM_007138.2(ZNF90):c.743A>G (p.Lys248Arg)	ZNF90 (K248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455413	NM_007138.2(ZNF90):c.1222C>T (p.Arg408Cys)	ZNF90 (R408C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404511	NM_007138.2(ZNF90):c.145A>G (p.Lys49Glu)	ZNF90 (K49E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398212	NM_007138.2(ZNF90):c.1295A>G (p.Lys432Arg)	ZNF90 (K432R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397602	NM_007138.2(ZNF90):c.1550C>G (p.Ala517Gly)	ZNF90 (A517G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390830	NM_007138.2(ZNF90):c.431T>A (p.Val144Glu)	ZNF90 (V144E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368486	NM_007138.2(ZNF90):c.185C>T (p.Pro62Leu)	ZNF90 (P62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342941	NM_007138.2(ZNF90):c.1501A>G (p.Ile501Val)	ZNF90 (I501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342486	NM_007138.2(ZNF90):c.962C>G (p.Ala321Gly)	ZNF90 (A321G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339589	NM_007138.2(ZNF90):c.1114G>A (p.Asp372Asn)	ZNF90 (D372N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329301	NM_007138.2(ZNF90):c.1076A>G (p.His359Arg)	ZNF90 (H359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325362	NM_007138.2(ZNF90):c.314A>G (p.Lys105Arg)	ZNF90 (K105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319712	NM_007138.2(ZNF90):c.1508A>G (p.His503Arg)	ZNF90 (H503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312521	NM_007138.2(ZNF90):c.269G>T (p.Ser90Ile)	ZNF90 (S90I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310331	NM_007138.2(ZNF90):c.1054C>T (p.Arg352Cys)	ZNF90 (R352C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300305	NM_007138.2(ZNF90):c.302C>T (p.Thr101Ile)	ZNF90 (T101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285622	NM_007138.2(ZNF90):c.1124G>C (p.Gly375Ala)	ZNF90 (G375A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279769	NM_007138.2(ZNF90):c.1417A>G (p.Ile473Val)	ZNF90 (I473V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276118	NM_007138.2(ZNF90):c.1750A>C (p.Lys584Gln)	ZNF90 (K584Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214586	NM_007138.2(ZNF90):c.115C>A (p.His39Asn)	ZNF90 (H39N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214585	NM_007138.2(ZNF90):c.109T>C (p.Tyr37His)	ZNF90 (Y37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816525	GRCh37/hg19 19p13.11-12(chr19:19973452-20499525)x3	ZNF90, ZNF93 +3 more	Copy number gain	See cases	GUncertain significance
Select item 710765	NM_007138.2(ZNF90):c.366G>A (p.Glu122=)	ZNF90	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 564603	GRCh37/hg19 19p13.11-12(chr19:19903805-21966609)x1	ZNF737, ZNF708 +14 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394171	GRCh37/hg19 19p12(chr19:20027329-20576093)x3	ZNF486, ZNF682 +2 more	Copy number gain	See cases	GLikely benign
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155371	GRCh38/hg38 19p13.11-12(chr19:19767502-21093565)x1	ERVS71-1, LINC00663 +25 more	Copy number loss	See cases	GUncertain significance
Select item 148871	GRCh38/hg38 19p13.11-12(chr19:19859042-20621825)x3	ERVS71-1, LOC125371497 +14 more	Copy number gain	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 72