ZKSCAN5[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 3334764	NM_145102.4(ZKSCAN5):c.41C>T (p.Pro14Leu)	ZKSCAN5 (P14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334760	NM_145102.4(ZKSCAN5):c.43C>T (p.Pro15Ser)	ZKSCAN5 (P15S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300871	NM_145102.4(ZKSCAN5):c.56C>A (p.Ser19Tyr)	ZKSCAN5 (S19Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384889	NM_145102.4(ZKSCAN5):c.137T>C (p.Phe46Ser)	ZKSCAN5 (F46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193670	NM_145102.4(ZKSCAN5):c.175C>T (p.His59Tyr)	ZKSCAN5 (H59Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334762	NM_145102.4(ZKSCAN5):c.353G>T (p.Gly118Val)	ZKSCAN5 (G118V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241466	NM_145102.4(ZKSCAN5):c.382A>G (p.Ile128Val)	ZKSCAN5 (I128V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373406	NM_145102.4(ZKSCAN5):c.413A>G (p.Gln138Arg)	ZKSCAN5 (Q138R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551064	NM_145102.4(ZKSCAN5):c.434T>C (p.Val145Ala)	ZKSCAN5 (V145A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783500	NM_145102.4(ZKSCAN5):c.444G>A (p.Arg148=)	ZKSCAN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3193675	NM_145102.4(ZKSCAN5):c.529A>G (p.Lys177Glu)	ZKSCAN5 (K177E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193676	NM_145102.4(ZKSCAN5):c.533C>T (p.Pro178Leu)	ZKSCAN5 (P178L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228948	NM_145102.4(ZKSCAN5):c.536G>A (p.Arg179His)	ZKSCAN5 (R179H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 780699	NM_145102.4(ZKSCAN5):c.552T>C (p.Asn184=)	ZKSCAN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2225284	NM_145102.4(ZKSCAN5):c.665A>C (p.Asp222Ala)	ZKSCAN5 (D222A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492394	NM_145102.4(ZKSCAN5):c.710A>T (p.Gln237Leu)	ZKSCAN5 (Q237L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495642	NM_145102.4(ZKSCAN5):c.776A>G (p.Tyr259Cys)	ZKSCAN5 (Y186C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193677	NM_145102.4(ZKSCAN5):c.838T>C (p.Trp280Arg)	ZKSCAN5 (W280R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193678	NM_145102.4(ZKSCAN5):c.848C>T (p.Pro283Leu)	ZKSCAN5 (P210L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335001	NM_145102.4(ZKSCAN5):c.877G>A (p.Asp293Asn)	ZKSCAN5 (D220N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193679	NM_145102.4(ZKSCAN5):c.904C>A (p.Leu302Ile)	ZKSCAN5 (L229I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334763	NM_145102.4(ZKSCAN5):c.911G>A (p.Gly304Asp)	ZKSCAN5 (G304D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293095	NM_145102.4(ZKSCAN5):c.931G>A (p.Val311Ile)	ZKSCAN5 (V311I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193669	NM_145102.4(ZKSCAN5):c.1005C>A (p.Ser335Arg)	ZKSCAN5 (S335R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463601	NM_145102.4(ZKSCAN5):c.1006C>T (p.Pro336Ser)	ZKSCAN5 (P263S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247977	NM_145102.4(ZKSCAN5):c.1027G>A (p.Glu343Lys)	ZKSCAN5 (E343K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365340	NM_145102.4(ZKSCAN5):c.1062C>A (p.Phe354Leu)	ZKSCAN5 (F354L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555215	NM_145102.4(ZKSCAN5):c.1318G>A (p.Gly440Ser)	ZKSCAN5 (G176S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307300	NM_145102.4(ZKSCAN5):c.1328C>T (p.Ser443Leu)	ZKSCAN5 (S179L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478113	NM_145102.4(ZKSCAN5):c.1349A>C (p.Lys450Thr)	ZKSCAN5 (K186T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334758	NM_145102.4(ZKSCAN5):c.1475G>T (p.Arg492Ile)	ZKSCAN5 (R228I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589167	NM_145102.4(ZKSCAN5):c.1486C>G (p.Gln496Glu)	ZKSCAN5 (Q496E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385598	NM_145102.4(ZKSCAN5):c.1504G>A (p.Glu502Lys)	ZKSCAN5 (E238K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334759	NM_145102.4(ZKSCAN5):c.1765C>T (p.Arg589Cys)	ZKSCAN5 (R325C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464669	NM_145102.4(ZKSCAN5):c.1886G>T (p.Gly629Val)	ZKSCAN5 (G365V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490355	NM_145102.4(ZKSCAN5):c.1958G>A (p.Arg653Gln)	ZKSCAN5 (R389Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280453	NM_145102.4(ZKSCAN5):c.1974G>T (p.Glu658Asp)	ZKSCAN5 (E585D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193671	NM_145102.4(ZKSCAN5):c.2020G>A (p.Val674Ile)	ZKSCAN5 (V410I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193672	NM_145102.4(ZKSCAN5):c.2083G>A (p.Glu695Lys)	ZKSCAN5 (E622K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616545	NM_145102.4(ZKSCAN5):c.2086G>A (p.Glu696Lys)	ZKSCAN5 (E696K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354080	NM_145102.4(ZKSCAN5):c.2134T>G (p.Leu712Val)	ZKSCAN5 (L448V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193673	NM_145102.4(ZKSCAN5):c.2295A>T (p.Lys765Asn)	ZKSCAN5 (K765N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193674	NM_145102.4(ZKSCAN5):c.2497A>C (p.Ser833Arg)	ZKSCAN5 (S833R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2685253	GRCh37/hg19 7q22.1(chr7:99057038-99165274)x1	ATP5MF, ATP5MF-PTCD1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687317	GRCh37/hg19 7q22.1(chr7:98758955-99368262)x1	ARPC1A, ARPC1B +16 more	Copy number loss	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253793	GRCh37/hg19 7q22.1(chr7:98985840-99171421)x3	ATP5MF-PTCD1, BUD31 +10 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 70