222950[Gene ID] - ClinVar

Search results

Items: 96

	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 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 3203574	NM_173564.4(NYAP1):c.136G>A (p.Val46Met)	NYAP1 (V46M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378874	NM_173564.4(NYAP1):c.152C>T (p.Ser51Leu)	NYAP1 (S51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301754	NM_173564.4(NYAP1):c.158G>C (p.Arg53Pro)	NYAP1 (R53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203584	NM_173564.4(NYAP1):c.193G>A (p.Ala65Thr)	NYAP1 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371858	NM_173564.4(NYAP1):c.273G>A (p.Met91Ile)	NYAP1 (M91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300967	NM_173564.4(NYAP1):c.335G>A (p.Arg112Gln)	NYAP1 (R112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340230	NM_173564.4(NYAP1):c.391C>A (p.Pro131Thr)	NYAP1 (P131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203588	NM_173564.4(NYAP1):c.448C>T (p.Pro150Ser)	NYAP1 (P150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243874	NM_173564.4(NYAP1):c.488A>G (p.Lys163Arg)	NYAP1 (K163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275666	NM_173564.4(NYAP1):c.562G>C (p.Gly188Arg)	NYAP1 (G188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333994	NM_173564.4(NYAP1):c.569A>G (p.Asn190Ser)	NYAP1 (N190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325920	NM_173564.4(NYAP1):c.611G>T (p.Gly204Val)	NYAP1 (G204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301751	NM_173564.4(NYAP1):c.667G>A (p.Val223Ile)	NYAP1 (V223I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357242	NM_173564.4(NYAP1):c.685C>G (p.Arg229Gly)	NYAP1 (R229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227050	NM_173564.4(NYAP1):c.748G>A (p.Ala250Thr)	NYAP1 (A250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401146	NM_173564.4(NYAP1):c.827G>A (p.Arg276Gln)	NYAP1 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301753	NM_173564.4(NYAP1):c.880G>A (p.Ala294Thr)	NYAP1 (A294T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236233	NM_173564.4(NYAP1):c.887C>T (p.Pro296Leu)	NYAP1 (P296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460711	NM_173564.4(NYAP1):c.892C>T (p.His298Tyr)	NYAP1 (H298Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317245	NM_173564.4(NYAP1):c.929G>A (p.Arg310Gln)	NYAP1 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330596	NM_173564.4(NYAP1):c.949A>G (p.Lys317Glu)	NYAP1 (K317E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203565	NM_173564.4(NYAP1):c.1001G>A (p.Arg334Gln)	NYAP1 (R334Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203566	NM_173564.4(NYAP1):c.1054G>A (p.Asp352Asn)	NYAP1 (D352N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203567	NM_173564.4(NYAP1):c.1084C>T (p.His362Tyr)	NYAP1 (H362Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309980	NM_173564.4(NYAP1):c.1102G>A (p.Gly368Ser)	NYAP1 (G368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203568	NM_173564.4(NYAP1):c.1132C>T (p.Arg378Trp)	NYAP1 (R378W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203569	NM_173564.4(NYAP1):c.1145C>T (p.Thr382Met)	NYAP1 (T382M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782023	NM_173564.4(NYAP1):c.1146G>A (p.Thr382=)	NYAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2256881	NM_173564.4(NYAP1):c.1150C>T (p.Pro384Ser)	NYAP1 (P384S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203570	NM_173564.4(NYAP1):c.1256G>A (p.Arg419Gln)	NYAP1 (R419Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398718	NM_173564.4(NYAP1):c.1264C>T (p.Arg422Trp)	NYAP1 (R422W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263061	NM_173564.4(NYAP1):c.1268A>C (p.Glu423Ala)	NYAP1 (E423A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203571	NM_173564.4(NYAP1):c.1307C>T (p.Ala436Val)	NYAP1 (A436V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250052	NM_173564.4(NYAP1):c.1327C>A (p.Pro443Thr)	NYAP1 (P443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203572	NM_173564.4(NYAP1):c.1334C>T (p.Pro445Leu)	NYAP1 (P445L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301752	NM_173564.4(NYAP1):c.1339G>A (p.Ala447Thr)	NYAP1 (A447T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203573	NM_173564.4(NYAP1):c.1358C>T (p.Pro453Leu)	NYAP1 (P453L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265307	NM_173564.4(NYAP1):c.1370C>T (p.Ala457Val)	NYAP1 (A457V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203575	NM_173564.4(NYAP1):c.1492A>G (p.Met498Val)	NYAP1 (M498V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203576	NM_173564.4(NYAP1):c.1538C>T (p.Pro513Leu)	NYAP1 (P513L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203577	NM_173564.4(NYAP1):c.1543G>A (p.Gly515Ser)	NYAP1 (G515S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314680	NM_173564.4(NYAP1):c.1558G>A (p.Ala520Thr)	NYAP1 (A520T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245968	NM_173564.4(NYAP1):c.1570G>T (p.Val524Phe)	NYAP1 (V524F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510096	NM_173564.4(NYAP1):c.1582C>T (p.Arg528Cys)	NYAP1 (R528C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212473	NM_173564.4(NYAP1):c.1603C>T (p.His535Tyr)	NYAP1 (H535Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657749	NM_173564.4(NYAP1):c.1614G>A (p.Pro538=)	NYAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2475410	NM_173564.4(NYAP1):c.1630C>T (p.Pro544Ser)	NYAP1 (P544S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203578	NM_173564.4(NYAP1):c.1754T>C (p.Met585Thr)	NYAP1 (M585T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203579	NM_173564.4(NYAP1):c.1828G>A (p.Ala610Thr)	NYAP1 (A610T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203581	NM_173564.4(NYAP1):c.1864G>C (p.Val622Leu)	NYAP1 (V622L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203580	NM_173564.4(NYAP1):c.1864G>A (p.Val622Met)	NYAP1 (V622M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456363	NM_173564.4(NYAP1):c.1865T>G (p.Val622Gly)	NYAP1 (V622G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407593	NM_173564.4(NYAP1):c.1873G>A (p.Ala625Thr)	NYAP1 (A625T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394548	NM_173564.4(NYAP1):c.1879T>C (p.Phe627Leu)	NYAP1 (F627L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203582	NM_173564.4(NYAP1):c.1925G>A (p.Arg642Lys)	NYAP1 (R642K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203583	NM_173564.4(NYAP1):c.1931C>G (p.Ala644Gly)	NYAP1 (A644G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207346	NM_173564.4(NYAP1):c.1963C>T (p.Arg655Trp)	NYAP1 (R655W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347142	NM_173564.4(NYAP1):c.1964G>A (p.Arg655Gln)	NYAP1 (R655Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203585	NM_173564.4(NYAP1):c.2041G>T (p.Val681Leu)	NYAP1 (V681L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203586	NM_173564.4(NYAP1):c.2093G>A (p.Arg698Gln)	NYAP1 (R698Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394300	NM_173564.4(NYAP1):c.2111C>T (p.Ala704Val)	NYAP1 (A704V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460598	NM_173564.4(NYAP1):c.2119A>G (p.Ile707Val)	NYAP1 (I707V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338469	NM_173564.4(NYAP1):c.2165C>T (p.Thr722Met)	NYAP1 (T722M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513472	NM_173564.4(NYAP1):c.2203G>A (p.Gly735Arg)	NYAP1 (G735R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203587	NM_173564.4(NYAP1):c.2248C>T (p.Pro750Ser)	NYAP1 (P750S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616882	NM_173564.4(NYAP1):c.2274C>A (p.His758Gln)	NYAP1 (H758Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470074	NM_173564.4(NYAP1):c.2279C>A (p.Ala760Glu)	NYAP1 (A760E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296093	NM_173564.4(NYAP1):c.2290C>A (p.Pro764Thr)	NYAP1 (P764T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301755	NM_173564.4(NYAP1):c.2483C>T (p.Pro828Leu)	NYAP1 (P828L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301750	NM_173564.4(NYAP1):c.2492G>A (p.Arg831Gln)	NYAP1 (R831Q)	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 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 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 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: 96