ClinVar for Gene (Select 100287226) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2649647	NM_001242680.2(ZNF729):c.3474A>G (p.Lys1158=)	ZNF729	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649646	NM_001242680.2(ZNF729):c.2691A>G (p.Val897=)	ZNF729	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602033	NM_001242680.2(ZNF729):c.1994T>G (p.Phe665Cys)	ZNF729 (F665C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600200	NM_001242680.2(ZNF729):c.3687C>A (p.His1229Gln)	ZNF729 (H1229Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598745	NM_001242680.2(ZNF729):c.199C>G (p.Gln67Glu)	ZNF729 (Q67E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597837	NM_001242680.2(ZNF729):c.2179C>T (p.Leu727Phe)	ZNF729 (L727F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568675	NM_001242680.2(ZNF729):c.2090C>T (p.Ser697Leu)	ZNF729 (S697L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557609	NM_001242680.2(ZNF729):c.2150G>A (p.Cys717Tyr)	ZNF729 (C717Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553875	NM_001242680.2(ZNF729):c.737A>C (p.Lys246Thr)	ZNF729 (K246T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549648	NM_001242680.2(ZNF729):c.377G>T (p.Cys126Phe)	ZNF729 (C126F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548677	NM_001242680.2(ZNF729):c.290A>G (p.Asp97Gly)	ZNF729 (D97G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547341	NM_001242680.2(ZNF729):c.3334G>C (p.Ala1112Pro)	ZNF729 (A1112P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538943	NM_001242680.2(ZNF729):c.1012C>T (p.His338Tyr)	ZNF729 (H338Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527099	NM_001242680.2(ZNF729):c.203G>A (p.Gly68Glu)	ZNF729 (G68E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521281	NM_001242680.2(ZNF729):c.3112C>G (p.His1038Asp)	ZNF729 (H1038D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516133	NM_001242680.2(ZNF729):c.2416A>C (p.Lys806Gln)	ZNF729 (K806Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515059	NM_001242680.2(ZNF729):c.1505A>C (p.Asp502Ala)	ZNF729 (D502A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510428	NM_001242680.2(ZNF729):c.251C>T (p.Pro84Leu)	ZNF729 (P84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493801	NM_001242680.2(ZNF729):c.2676G>C (p.Leu892Phe)	ZNF729 (L892F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493800	NM_001242680.2(ZNF729):c.2675T>C (p.Leu892Ser)	ZNF729 (L892S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477399	NM_001242680.2(ZNF729):c.1637G>A (p.Cys546Tyr)	ZNF729 (C546Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476863	NM_001242680.2(ZNF729):c.2645G>T (p.Cys882Phe)	ZNF729 (C882F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412544	NM_001242680.2(ZNF729):c.2194G>T (p.Val732Leu)	ZNF729 (V732L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406623	NM_001242680.2(ZNF729):c.484G>C (p.Val162Leu)	ZNF729 (V162L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405258	NM_001242680.2(ZNF729):c.2426C>T (p.Ser809Leu)	ZNF729 (S809L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404335	NM_001242680.2(ZNF729):c.493A>G (p.Lys165Glu)	ZNF729 (K165E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404334	NM_001242680.2(ZNF729):c.3322G>A (p.Glu1108Lys)	ZNF729 (E1108K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398703	NM_001242680.2(ZNF729):c.1268A>C (p.Lys423Thr)	ZNF729 (K423T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397537	NM_001242680.2(ZNF729):c.3118A>G (p.Ile1040Val)	ZNF729 (I1040V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394804	NM_001242680.2(ZNF729):c.1939A>C (p.Lys647Gln)	ZNF729 (K647Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393941	NM_001242680.2(ZNF729):c.260G>A (p.Arg87His)	ZNF729 (R87H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393599	NM_001242680.2(ZNF729):c.1595G>C (p.Arg532Thr)	ZNF729 (R532T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2390145	NM_001242680.2(ZNF729):c.1919C>A (p.Ser640Tyr)	ZNF729 (S640Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381991	NM_001242680.2(ZNF729):c.1603C>G (p.Gln535Glu)	ZNF729 (Q535E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378057	NM_001242680.2(ZNF729):c.1693A>G (p.Ile565Val)	ZNF729 (I565V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375260	NM_001242680.2(ZNF729):c.3522C>G (p.His1174Gln)	ZNF729 (H1174Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371595	NM_001242680.2(ZNF729):c.3449A>T (p.His1150Leu)	ZNF729 (H1150L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369396	NM_001242680.2(ZNF729):c.1558G>A (p.Glu520Lys)	ZNF729 (E520K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351250	NM_001242680.2(ZNF729):c.1139A>G (p.Glu380Gly)	ZNF729 (E380G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348440	NM_001242680.2(ZNF729):c.2470T>C (p.Cys824Arg)	ZNF729 (C824R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348331	NM_001242680.2(ZNF729):c.2530G>A (p.Val844Ile)	ZNF729 (V844I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345724	NM_001242680.2(ZNF729):c.431A>G (p.Gln144Arg)	ZNF729 (Q144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343653	NM_001242680.2(ZNF729):c.590G>A (p.Arg197Gln)	ZNF729 (R197Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2342893	NM_001242680.2(ZNF729):c.3235G>A (p.Glu1079Lys)	ZNF729 (E1079K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339705	NM_001242680.2(ZNF729):c.2689G>A (p.Val897Ile)	ZNF729 (V897I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328348	NM_001242680.2(ZNF729):c.1867A>G (p.Thr623Ala)	ZNF729 (T623A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327031	NM_001242680.2(ZNF729):c.1046A>G (p.Lys349Arg)	ZNF729 (K349R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326717	NM_001242680.2(ZNF729):c.1004T>G (p.Leu335Arg)	ZNF729 (L335R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311460	NM_001242680.2(ZNF729):c.1225T>C (p.Cys409Arg)	ZNF729 (C409R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309955	NM_001242680.2(ZNF729):c.226A>G (p.Arg76Gly)	ZNF729 (R76G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305082	NM_001242680.2(ZNF729):c.71T>C (p.Leu24Pro)	ZNF729 (L24P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304359	NM_001242680.2(ZNF729):c.2695A>G (p.Lys899Glu)	ZNF729 (K899E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292692	NM_001242680.2(ZNF729):c.2731G>C (p.Glu911Gln)	ZNF729 (E911Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287696	NM_001242680.2(ZNF729):c.1521G>C (p.Lys507Asn)	ZNF729 (K507N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284444	NM_001242680.2(ZNF729):c.607A>G (p.Ile203Val)	ZNF729 (I203V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282353	NM_001242680.2(ZNF729):c.2516T>A (p.Leu839His)	ZNF729 (L839H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281532	NM_001242680.2(ZNF729):c.1625A>G (p.Lys542Arg)	ZNF729 (K542R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279104	NM_001242680.2(ZNF729):c.847A>C (p.Lys283Gln)	ZNF729 (K283Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269528	NM_001242680.2(ZNF729):c.1074C>A (p.Ser358Arg)	ZNF729 (S358R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266223	NM_001242680.2(ZNF729):c.2329T>C (p.Phe777Leu)	ZNF729 (F777L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263482	NM_001242680.2(ZNF729):c.2026A>G (p.Ile676Val)	ZNF729 (I676V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258391	NM_001242680.2(ZNF729):c.2929T>A (p.Ser977Thr)	ZNF729 (S977T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251916	NM_001242680.2(ZNF729):c.3695T>C (p.Leu1232Pro)	ZNF729 (L1232P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250667	NM_001242680.2(ZNF729):c.2545A>G (p.Lys849Glu)	ZNF729 (K849E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250666	NM_001242680.2(ZNF729):c.2540C>G (p.Thr847Ser)	ZNF729 (T847S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250665	NM_001242680.2(ZNF729):c.2527A>G (p.Lys843Glu)	ZNF729 (K843E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246173	NM_001242680.2(ZNF729):c.3697G>A (p.Asp1233Asn)	ZNF729 (D1233N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231706	NM_001242680.2(ZNF729):c.126G>A (p.Met42Ile)	ZNF729 (M42I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223270	NM_001242680.2(ZNF729):c.2456C>T (p.Thr819Ile)	ZNF729 (T819I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217876	NM_001242680.2(ZNF729):c.2858A>G (p.Lys953Arg)	ZNF729 (K953R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213268	NM_001242680.2(ZNF729):c.2234G>T (p.Cys745Phe)	ZNF729 (C745F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212532	NM_001242680.2(ZNF729):c.2960C>G (p.Thr987Ser)	ZNF729 (T987S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208037	NM_001242680.2(ZNF729):c.2314G>A (p.Glu772Lys)	ZNF729 (E772K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205905	NM_001242680.2(ZNF729):c.3016A>G (p.Thr1006Ala)	ZNF729 (T1006A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204288	NM_001242680.2(ZNF729):c.1551A>T (p.Lys517Asn)	ZNF729 (K517N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203838	NM_001242680.2(ZNF729):c.257T>C (p.Met86Thr)	ZNF729 (M86T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 816522	GRCh37/hg19 19p12(chr19:22208751-23199700)x3	ZNF257, ZNF492 +5 more	Copy number gain	See cases	GLikely benign
Select item 816071	GRCh37/hg19 19p12(chr19:21717186-23008275)x3	ZNF100, ZNF208 +8 more	Copy number gain	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 153793	GRCh38/hg38 19p12(chr19:22159102-23021493)x3	LINC01233, LINC01785 +10 more	Copy number gain	See cases	GUncertain significance
Select item 152242	GRCh38/hg38 19p12(chr19:22176690-23010173)x3	LINC01233, LINC01785 +9 more	Copy number gain	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 146475	GRCh38/hg38 19p12(chr19:21591877-22802732)x3	LINC01233, LINC01785 +13 more	Copy number gain	See cases	GUncertain significance
Select item 145763	GRCh38/hg38 19p12(chr19:21591877-22830542)x3	LINC01233, LINC01785 +14 more	Copy number gain	See cases	GBenign
Select item 145093	GRCh38/hg38 19p12(chr19:21591877-22802673)x3	LINC01233, LINC01785 +13 more	Copy number gain	See cases	GBenign
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 96