ZSCAN29[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 154715	GRCh38/hg38 15q15.2-15.3(chr15:43298918-43558944)x3	ADAL, LCMT2 +11 more	Copy number gain	See cases	GBenign
Select item 3057565	NM_001372080.1(ZSCAN29):c.2509G>A (p.Gly837Arg)	ZSCAN29 (G837R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1228847	NM_001372080.1(ZSCAN29):c.2508C>T (p.His836=)	ZSCAN29	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3199430	NM_001372080.1(ZSCAN29):c.2461C>T (p.His821Tyr)	ZSCAN29 (H821Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617040	NM_001372080.1(ZSCAN29):c.2453A>G (p.Tyr818Cys)	ZSCAN29 (Y818C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199429	NM_001372080.1(ZSCAN29):c.2438C>T (p.Thr813Ile)	ZSCAN29 (T813I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039844	NM_001372080.1(ZSCAN29):c.2427T>C (p.His809=)	ZSCAN29	Single nucleotide variant (synonymous variant)	ZSCAN29-related disorder	GLikely benign
Select item 3199428	NM_001372080.1(ZSCAN29):c.2392A>T (p.Ser798Cys)	ZSCAN29 (S798C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313147	NM_001372080.1(ZSCAN29):c.2381A>C (p.Asp794Ala)	ZSCAN29 (D794A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199427	NM_001372080.1(ZSCAN29):c.2296G>C (p.Glu766Gln)	ZSCAN29 (E766Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393493	NM_001372080.1(ZSCAN29):c.2284T>C (p.Tyr762His)	ZSCAN29 (Y762H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260076	NM_001372080.1(ZSCAN29):c.2259G>C (p.Gln753His)	ZSCAN29 (Q753H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405239	NM_001372080.1(ZSCAN29):c.2215T>C (p.Cys739Arg)	ZSCAN29 (C739R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199426	NM_001372080.1(ZSCAN29):c.2198C>G (p.Pro733Arg)	ZSCAN29 (P733R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060359	NM_001372080.1(ZSCAN29):c.2181C>T (p.Ile727=)	ZSCAN29	Single nucleotide variant (synonymous variant)	ZSCAN29-related disorder	GBenign
Select item 2395144	NM_001372080.1(ZSCAN29):c.2147G>A (p.Arg716His)	ZSCAN29 (R716H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570401	NM_001372080.1(ZSCAN29):c.2090G>A (p.Arg697Gln)	ZSCAN29 (R697Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463115	NM_001372080.1(ZSCAN29):c.2066G>A (p.Arg689Gln)	ZSCAN29 (R689Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354882	NM_001372080.1(ZSCAN29):c.2065C>T (p.Arg689Trp)	ZSCAN29 (R689W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199424	NM_001372080.1(ZSCAN29):c.2011T>G (p.Ser671Ala)	ZSCAN29 (S671A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042865	NM_001372080.1(ZSCAN29):c.1979T>G (p.Phe660Cys)	ZSCAN29 (F660C)	Single nucleotide variant (missense variant)	ZSCAN29-related disorder	GLikely benign
Select item 2316029	NM_001372080.1(ZSCAN29):c.1951T>C (p.Tyr651His)	ZSCAN29 (Y651H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050824	NM_001372080.1(ZSCAN29):c.1950C>T (p.Pro650=)	ZSCAN29	Single nucleotide variant (synonymous variant)	ZSCAN29-related disorder	GLikely benign
Select item 3199423	NM_001372080.1(ZSCAN29):c.1944G>C (p.Glu648Asp)	ZSCAN29 (E648D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392789	NM_001372080.1(ZSCAN29):c.1892C>T (p.Pro631Leu)	ZSCAN29 (P631L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284133	NM_001372080.1(ZSCAN29):c.1886C>G (p.Thr629Arg)	ZSCAN29 (T629R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336458	NM_001372080.1(ZSCAN29):c.1832G>A (p.Cys611Tyr)	ZSCAN29 (C611Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199422	NM_001372080.1(ZSCAN29):c.1820A>G (p.Asn607Ser)	ZSCAN29 (N607S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346033	NM_001372080.1(ZSCAN29):c.1788A>C (p.Lys596Asn)	ZSCAN29 (K596N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199420	NM_001372080.1(ZSCAN29):c.1778C>G (p.Ser593Cys)	ZSCAN29 (S593C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351718	NM_001372080.1(ZSCAN29):c.1761G>T (p.Arg587Ser)	ZSCAN29 (R587S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199419	NM_001372080.1(ZSCAN29):c.1760G>C (p.Arg587Thr)	ZSCAN29 (R587T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550465	NM_001372080.1(ZSCAN29):c.1750C>G (p.Gln584Glu)	ZSCAN29 (Q584E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595580	NM_001372080.1(ZSCAN29):c.1748T>C (p.Val583Ala)	ZSCAN29 (V583A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199418	NM_001372080.1(ZSCAN29):c.1747G>A (p.Val583Ile)	ZSCAN29 (V583I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292783	NM_001372080.1(ZSCAN29):c.1726A>C (p.Lys576Gln)	ZSCAN29 (K576Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332041	NM_001372080.1(ZSCAN29):c.1663G>A (p.Ala555Thr)	ZSCAN29 (A555T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464353	NM_001372080.1(ZSCAN29):c.1586C>G (p.Ala529Gly)	ZSCAN29 (A529G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598491	NM_001372080.1(ZSCAN29):c.1558G>A (p.Ala520Thr)	ZSCAN29 (A520T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260072	NM_001372080.1(ZSCAN29):c.1343G>T (p.Arg448Met)	ZSCAN29 (R448M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199415	NM_001372080.1(ZSCAN29):c.1303T>C (p.Cys435Arg)	ZSCAN29 (C435R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199414	NM_001372080.1(ZSCAN29):c.1297C>T (p.Arg433Trp)	ZSCAN29 (R433W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260074	NM_001372080.1(ZSCAN29):c.1215C>G (p.Ser405Arg)	ZSCAN29 (S405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260077	NM_001372080.1(ZSCAN29):c.1127C>A (p.Ala376Asp)	ZSCAN29 (A376D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038810	NM_001372080.1(ZSCAN29):c.1109AGG[1] (p.Glu371del)	ZSCAN29 (E371del)	Microsatellite	ZSCAN29-related disorder	GBenign
Select item 3199413	NM_001372080.1(ZSCAN29):c.1002G>C (p.Gln334His)	ZSCAN29 (Q334H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260075	NM_001372080.1(ZSCAN29):c.975A>C (p.Glu325Asp)	ZSCAN29 (E325D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199433	NM_001372080.1(ZSCAN29):c.943G>A (p.Gly315Ser)	ZSCAN29 (G315S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408343	NM_001372080.1(ZSCAN29):c.929G>A (p.Arg310Gln)	ZSCAN29 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310241	NM_001372080.1(ZSCAN29):c.925T>C (p.Tyr309His)	ZSCAN29 (Y309H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260073	NM_001372080.1(ZSCAN29):c.890A>G (p.Gln297Arg)	ZSCAN29 (Q297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364798	NM_001372080.1(ZSCAN29):c.806T>C (p.Leu269Pro)	ZSCAN29 (L269P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348827	NM_001372080.1(ZSCAN29):c.775A>G (p.Ile259Val)	ZSCAN29 (I259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542574	NM_001372080.1(ZSCAN29):c.604G>A (p.Glu202Lys)	ZSCAN29 (E202K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199432	NM_001372080.1(ZSCAN29):c.602A>T (p.Lys201Met)	ZSCAN29 (K201M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199431	NM_001372080.1(ZSCAN29):c.590T>G (p.Leu197Arg)	ZSCAN29 (L197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467221	NM_001372080.1(ZSCAN29):c.441G>C (p.Lys147Asn)	ZSCAN29 (K147N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052663	NM_001372080.1(ZSCAN29):c.408G>A (p.Glu136=)	ZSCAN29	Single nucleotide variant (synonymous variant)	ZSCAN29-related disorder	GLikely benign
Select item 2251098	NM_001372080.1(ZSCAN29):c.389T>C (p.Leu130Ser)	ZSCAN29 (L130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314856	NM_001372080.1(ZSCAN29):c.371C>T (p.Pro124Leu)	ZSCAN29 (P124L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3046552	NM_001372080.1(ZSCAN29):c.228T>C (p.Asn76=)	ZSCAN29	Single nucleotide variant (synonymous variant)	ZSCAN29-related disorder	GLikely benign
Select item 2354852	NM_001372080.1(ZSCAN29):c.149A>G (p.Glu50Gly)	ZSCAN29 (E50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594177	NM_001372080.1(ZSCAN29):c.35C>T (p.Thr12Ile)	ZSCAN29 (T12I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1188532	NC_000015.10:g.43370961G>C	LOC130056943, TUBGCP4 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1242749	NC_000015.10:g.43370977CCCGGC[7]	LOC130056943, TUBGCP4 +1 more	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1237521	NC_000015.10:g.43370977CCCGGC[6]	LOC130056943, TUBGCP4 +1 more	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1208069	NC_000015.10:g.43370977CCCGGC[10]	LOC130056943, TUBGCP4 +1 more	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1197063	NC_000015.10:g.43370977CCCGGC[9]	LOC130056943, TUBGCP4 +1 more	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1240667	NC_000015.10:g.43370977CCCGGC[4]	LOC130056943, TUBGCP4 +1 more	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1196047	NC_000015.10:g.43371012A>G	TUBGCP4, ZSCAN29	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1526448	GRCh37/hg19 15q15.2-15.3(chr15:43268878-43744411)	ADAL, CCNDBP1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1341068	GRCh37/hg19 15q15.2-15.3(chr15:43215243-44632384)x1	ADAL, CATSPER2 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980033	GRCh37/hg19 15q15.2-15.3(chr15:43135272-43744542)x1	TGM7, TP53BP1 +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 815709	GRCh37/hg19 15q15.2-15.3(chr15:43420601-44198616)x3	TGM5, PDIA3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 815707	GRCh37/hg19 15q15.2-15.3(chr15:43017718-43685171)x3	EPB42, TGM5 +10 more	Copy number gain	not provided	GUncertain significance
Select item 688815	GRCh37/hg19 15q15.2-15.3(chr15:43062580-43744411)x1	ADAL, CCNDBP1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 687806	GRCh37/hg19 15q15.2-15.3(chr15:43062580-43737484)x1	ADAL, CCNDBP1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 687483	GRCh37/hg19 15q15.2-15.3(chr15:43118272-43668969)x3	ADAL, CCNDBP1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 89