ZKSCAN1[gene] - ClinVar

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Items: 64

	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 154648	GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3	AP4M1, AZGP1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 2316902	NM_003439.4(ZKSCAN1):c.29C>T (p.Thr10Met)	ZKSCAN1 (T10M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193625	NM_003439.4(ZKSCAN1):c.90G>C (p.Glu30Asp)	ZKSCAN1 (E30D)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2300006	NM_003439.4(ZKSCAN1):c.159G>C (p.Glu53Asp)	ZKSCAN1 (E53D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372879	NM_003439.4(ZKSCAN1):c.181C>T (p.Arg61Cys)	ZKSCAN1 (R61C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361903	NM_003439.4(ZKSCAN1):c.182G>T (p.Arg61Leu)	ZKSCAN1 (R61L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318229	NM_003439.4(ZKSCAN1):c.212G>A (p.Arg71Gln)	ZKSCAN1 (R35Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257802	NM_003439.4(ZKSCAN1):c.248A>G (p.Gln83Arg)	ZKSCAN1 (Q83R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193619	NM_003439.4(ZKSCAN1):c.256C>T (p.Arg86Trp)	ZKSCAN1 (R50W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366443	NM_003439.4(ZKSCAN1):c.257G>A (p.Arg86Gln)	ZKSCAN1 (R50Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483946	NM_003439.4(ZKSCAN1):c.331G>A (p.Glu111Lys)	ZKSCAN1 (E75K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230870	NM_003439.4(ZKSCAN1):c.380C>T (p.Ala127Val)	ZKSCAN1 (A127V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341060	NM_003439.4(ZKSCAN1):c.460G>A (p.Ala154Thr)	ZKSCAN1 (A118T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230652	NM_003439.4(ZKSCAN1):c.520G>A (p.Glu174Lys)	ZKSCAN1 (E174K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 3193620	NM_003439.4(ZKSCAN1):c.545A>G (p.His182Arg)	ZKSCAN1 (H146R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193621	NM_003439.4(ZKSCAN1):c.548C>T (p.Ser183Leu)	ZKSCAN1 (S147L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394491	NM_003439.4(ZKSCAN1):c.563G>A (p.Arg188His)	ZKSCAN1 (R188H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399418	NM_003439.4(ZKSCAN1):c.578G>A (p.Arg193Gln)	ZKSCAN1 (R193Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395241	NM_003439.4(ZKSCAN1):c.581C>G (p.Ala194Gly)	ZKSCAN1 (A158G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357963	NM_003439.4(ZKSCAN1):c.607C>T (p.Pro203Ser)	ZKSCAN1 (P203S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193623	NM_003439.4(ZKSCAN1):c.614A>C (p.His205Pro)	ZKSCAN1 (H169P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193624	NM_003439.4(ZKSCAN1):c.631G>C (p.Asp211His)	ZKSCAN1 (D175H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334739	NM_003439.4(ZKSCAN1):c.658A>G (p.Thr220Ala)	ZKSCAN1 (T184A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657730	NM_003439.4(ZKSCAN1):c.663G>A (p.Ala221=)	ZKSCAN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2412510	NM_003439.4(ZKSCAN1):c.694A>G (p.Met232Val)	ZKSCAN1 (M19V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391971	NM_003439.4(ZKSCAN1):c.814A>G (p.Asn272Asp)	ZKSCAN1 (N236D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342479	NM_003439.4(ZKSCAN1):c.820A>G (p.Asn274Asp)	ZKSCAN1 (N61D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334740	NM_003439.4(ZKSCAN1):c.857A>T (p.Asp286Val)	ZKSCAN1 (D250V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334738	NM_003439.4(ZKSCAN1):c.869G>A (p.Arg290His)	ZKSCAN1 (R290H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2370918	NM_003439.4(ZKSCAN1):c.896A>G (p.Lys299Arg)	ZKSCAN1 (K263R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193626	NM_003439.4(ZKSCAN1):c.931A>G (p.Thr311Ala)	ZKSCAN1 (T98A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338848	NM_003439.4(ZKSCAN1):c.1277T>C (p.Ile426Thr)	ZKSCAN1 (I390T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193618	NM_003439.4(ZKSCAN1):c.1294C>A (p.Pro432Thr)	ZKSCAN1 (P396T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 981914	NM_003439.4(ZKSCAN1):c.1410C>G (p.Phe470Leu)	ZKSCAN1 (F257L +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability	GUncertain significance
Select item 161615	NM_003439.4(ZKSCAN1):c.1454G>A (p.Gly485Glu)	ZKSCAN1 (G485E +2 more)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of prostate	GUncertain significance
Select item 2213996	NM_003439.4(ZKSCAN1):c.1669G>A (p.Ala557Thr)	ZKSCAN1 (A521T +2 more)	Single nucleotide variant (missense variant +2 more)	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 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
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 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	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 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
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 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 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: 64