ZSCAN10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +148 more	Copy number loss	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 151030	GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3	C16orf90, CLUAP1 +101 more	Copy number gain	See cases	GUncertain significance
Select item 3199307	NM_032805.3(ZSCAN10):c.2326C>A (p.Arg776Ser)	ZSCAN10 (R382S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646100	NM_032805.3(ZSCAN10):c.2245G>T (p.Ala749Ser)	ZSCAN10 (A355S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2353655	NM_032805.3(ZSCAN10):c.2242G>C (p.Gly748Arg)	ZSCAN10 (G354R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482248	NM_032805.3(ZSCAN10):c.2195G>C (p.Ser732Thr)	ZSCAN10 (S550T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199306	NM_032805.3(ZSCAN10):c.2168C>T (p.Pro723Leu)	ZSCAN10 (P586L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622098	NM_032805.3(ZSCAN10):c.2164C>A (p.Pro722Thr)	ZSCAN10 (P540T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646101	NM_032805.3(ZSCAN10):c.2151G>A (p.Gln717=)	ZSCAN10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2460029	NM_032805.3(ZSCAN10):c.2146G>C (p.Gly716Arg)	ZSCAN10 (G322R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199305	NM_032805.3(ZSCAN10):c.2120G>A (p.Arg707Gln)	ZSCAN10 (R313Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391644	NM_032805.3(ZSCAN10):c.2106C>A (p.Asn702Lys)	ZSCAN10 (N520K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723262	NM_032805.3(ZSCAN10):c.2088T>C (p.Gly696=)	ZSCAN10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1677001	NM_032805.3(ZSCAN10):c.2050del (p.His684fs)	ZSCAN10 (H290fs +3 more)	Deletion (frameshift variant)	ZSCAN10 Deficiency +2 more	GPathogenic
Select item 2336863	NM_032805.3(ZSCAN10):c.2045G>A (p.Arg682His)	ZSCAN10 (R545H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460978	NM_032805.3(ZSCAN10):c.1923G>C (p.Glu641Asp)	ZSCAN10 (E504D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273498	NM_032805.3(ZSCAN10):c.1883A>G (p.His628Arg)	ZSCAN10 (H234R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558864	NM_032805.3(ZSCAN10):c.1817A>C (p.His606Pro)	ZSCAN10 (H212P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199304	NM_032805.3(ZSCAN10):c.1810C>T (p.Arg604Trp)	ZSCAN10 (R210W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367294	NM_032805.3(ZSCAN10):c.1670G>A (p.Arg557His)	ZSCAN10 (R375H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260028	NM_032805.3(ZSCAN10):c.1642C>T (p.Arg548Trp)	ZSCAN10 (R366W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545069	NM_032805.3(ZSCAN10):c.1631A>C (p.His544Pro)	ZSCAN10 (H150P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199302	NM_032805.3(ZSCAN10):c.1595G>A (p.Arg532Gln)	ZSCAN10 (R350Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295714	NM_032805.3(ZSCAN10):c.1567G>A (p.Val523Met)	ZSCAN10 (V523M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510950	NM_032805.3(ZSCAN10):c.1556G>A (p.Arg519Gln)	ZSCAN10 (R519Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525569	NM_032805.3(ZSCAN10):c.1531G>A (p.Gly511Ser)	ZSCAN10 (G117S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199300	NM_032805.3(ZSCAN10):c.1501G>T (p.Asp501Tyr)	ZSCAN10 (D107Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324102	NM_032805.3(ZSCAN10):c.1458G>T (p.Gln486His)	ZSCAN10 (Q486H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335915	NM_032805.3(ZSCAN10):c.1456C>T (p.Gln486Ter)	ZSCAN10 (Q486* +3 more)	Single nucleotide variant (nonsense)	Otofacial neurodevelopmental syndrome	GPathogenic
Select item 782408	NM_032805.3(ZSCAN10):c.1436C>A (p.Ser479Tyr)	ZSCAN10 (S85Y +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2304314	NM_032805.3(ZSCAN10):c.1403C>T (p.Ala468Val)	ZSCAN10 (A286V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239695	NM_032805.3(ZSCAN10):c.1268T>A (p.Leu423Gln)	ZSCAN10 (L286Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677241	NM_032805.3(ZSCAN10):c.1250C>A (p.Ser417Ter)	ZSCAN10 (S23* +3 more)	Single nucleotide variant (nonsense)	ZSCAN10 Deficiency +2 more	GPathogenic
Select item 3199299	NM_032805.3(ZSCAN10):c.1234C>T (p.Arg412Cys)	ZSCAN10 (R275C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199316	NM_032805.3(ZSCAN10):c.1117G>T (p.Gly373Trp)	ZSCAN10 (G236W +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3335916	NM_032805.3(ZSCAN10):c.1112del (p.Pro371fs)	ZSCAN10 (P189fs +2 more)	Deletion (5 prime UTR variant +1 more)	Otofacial neurodevelopmental syndrome	GPathogenic
Select item 2402392	NM_032805.3(ZSCAN10):c.1090G>A (p.Ala364Thr)	ZSCAN10 (A227T +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2276763	NM_032805.3(ZSCAN10):c.1033T>A (p.Leu345Met)	ZSCAN10 (L208M +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2404397	NM_032805.3(ZSCAN10):c.1001T>C (p.Val334Ala)	ZSCAN10 (V197A +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2285360	NM_032805.3(ZSCAN10):c.976A>T (p.Ser326Cys)	ZSCAN10 (S189C +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2215337	NM_032805.3(ZSCAN10):c.929G>A (p.Arg310Gln)	ZSCAN10 (R173Q +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2522269	NM_032805.3(ZSCAN10):c.920C>T (p.Ser307Leu)	ZSCAN10 (S307L +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3260027	NM_032805.3(ZSCAN10):c.913G>A (p.Ala305Thr)	ZSCAN10 (A123T +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3260029	NM_032805.3(ZSCAN10):c.895G>A (p.Val299Met)	ZSCAN10 (V162M +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2466374	NM_032805.3(ZSCAN10):c.895G>C (p.Val299Leu)	ZSCAN10 (V162L +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3199315	NM_032805.3(ZSCAN10):c.862A>G (p.Ile288Val)	ZSCAN10 (I106V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2381146	NM_032805.3(ZSCAN10):c.841G>A (p.Gly281Arg)	ZSCAN10 (G144R +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2243306	NM_032805.3(ZSCAN10):c.839A>G (p.Lys280Arg)	ZSCAN10 (K280R +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 775035	NM_032805.3(ZSCAN10):c.834G>A (p.Glu278=)	ZSCAN10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3199314	NM_032805.3(ZSCAN10):c.803C>A (p.Thr268Asn)	ZSCAN10 (T86N +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 771012	NM_032805.3(ZSCAN10):c.768G>A (p.Ala256=)	ZSCAN10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 3199313	NM_032805.3(ZSCAN10):c.767C>T (p.Ala256Val)	ZSCAN10 (A119V +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3199312	NM_032805.3(ZSCAN10):c.757G>C (p.Glu253Gln)	ZSCAN10 (E116Q +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3199311	NM_032805.3(ZSCAN10):c.704G>A (p.Arg235Gln)	ZSCAN10 (R235Q +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3199310	NM_032805.3(ZSCAN10):c.689C>T (p.Pro230Leu)	ZSCAN10 (P230L +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2384757	NM_032805.3(ZSCAN10):c.688C>T (p.Pro230Ser)	ZSCAN10 (P93S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2267712	NM_032805.3(ZSCAN10):c.685T>C (p.Trp229Arg)	ZSCAN10 (W92R +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3199309	NM_032805.3(ZSCAN10):c.581C>T (p.Pro194Leu)	ZSCAN10 (P194L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2493998	NM_032805.3(ZSCAN10):c.557C>T (p.Pro186Leu)	ZSCAN10 (P186L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2354672	NM_032805.3(ZSCAN10):c.533C>T (p.Ser178Leu)	ZSCAN10 (S178L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2262824	NM_032805.3(ZSCAN10):c.485G>A (p.Ser162Asn)	ZSCAN10 (S162N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3199308	NM_032805.3(ZSCAN10):c.461G>A (p.Cys154Tyr)	ZSCAN10 (C154Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2387309	NM_032805.3(ZSCAN10):c.439G>A (p.Val147Ile)	ZSCAN10 (V147I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2518595	NM_032805.3(ZSCAN10):c.413C>T (p.Ala138Val)	ZSCAN10 (A138V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2356551	NM_032805.3(ZSCAN10):c.371G>A (p.Arg124Gln)	ZSCAN10 (R124Q)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3199301	NM_032805.3(ZSCAN10):c.307C>T (p.Arg103Cys)	ZSCAN10 (P55L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780016	NM_032805.3(ZSCAN10):c.270G>A (p.Glu90=)	ZSCAN10 (A43T)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3260030	NM_032805.3(ZSCAN10):c.233A>T (p.His78Leu)	ZSCAN10 (H78L)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2276762	NM_032805.3(ZSCAN10):c.197G>A (p.Arg66Gln)	ZSCAN10 (R66Q)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2622475	NM_032805.3(ZSCAN10):c.190C>T (p.Arg64Trp)	ZSCAN10 (R64W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199303	NM_032805.3(ZSCAN10):c.179C>T (p.Ala60Val)	ZSCAN10 (A60V)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2319654	NM_032805.3(ZSCAN10):c.176G>A (p.Arg59Gln)	ZSCAN10 (R59Q)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 779277	NM_032805.3(ZSCAN10):c.120C>G (p.Pro40=)	ZSCAN10	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 768742	NM_032805.3(ZSCAN10):c.28G>C (p.Val10Leu)	ZSCAN10 (V10L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3063409	GRCh37/hg19 16p13.3(chr16:3112024-3506789)x3	IL32, MEFV +14 more	Copy number gain	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, KREMEN2 +52 more	Copy number loss	not provided	GPathogenic
Select item 3024594	GRCh37/hg19 16p13.3(chr16:2979687-3220680)x3	BICDL2, CLDN6 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 689245	GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3	C16orf90, CLUAP1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 624490	GRCh37/hg19 16p13.3(chr16:3100528-3305985)x3	IL32, MEFV +6 more	Copy number gain	not provided	GLikely benign
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic

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