21769[HGNC] - ClinVar

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Items: 82

	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 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 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 2247196	NM_152892.3(LRWD1):c.23T>G (p.Leu8Arg)	LRWD1 (L8R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121264	NM_152892.3(LRWD1):c.47A>G (p.Lys16Arg)	LRWD1 (K16R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388202	NM_152892.3(LRWD1):c.49A>T (p.Ser17Cys)	LRWD1 (S17C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292147	NM_152892.3(LRWD1):c.130T>C (p.Cys44Arg)	LRWD1 (C44R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292146	NM_152892.3(LRWD1):c.223C>T (p.Arg75Cys)	LRWD1 (R75C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121262	NM_152892.3(LRWD1):c.275A>G (p.Lys92Arg)	LRWD1 (K92R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2366319	NM_152892.3(LRWD1):c.297G>C (p.Glu99Asp)	LRWD1 (E99D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3121263	NM_152892.3(LRWD1):c.314C>T (p.Thr105Met)	LRWD1 (T105M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2409169	NM_152892.3(LRWD1):c.353C>T (p.Thr118Met)	LRWD1 (T118M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2356449	NM_152892.3(LRWD1):c.368A>G (p.Asn123Ser)	LRWD1 (N123S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2398060	NM_152892.3(LRWD1):c.388A>G (p.Thr130Ala)	LRWD1 (T130A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3292148	NM_152892.3(LRWD1):c.389C>T (p.Thr130Ile)	LRWD1 (T130I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2278017	NM_152892.3(LRWD1):c.461C>T (p.Ala154Val)	LRWD1 (A154V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554836	NM_152892.3(LRWD1):c.476A>C (p.Glu159Ala)	LRWD1 (E159A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367197	NM_152892.3(LRWD1):c.497A>G (p.Gln166Arg)	LRWD1 (Q14R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292136	NM_152892.3(LRWD1):c.538G>A (p.Gly180Arg)	LRWD1 (G180R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292149	NM_152892.3(LRWD1):c.605C>T (p.Ala202Val)	LRWD1 (A50V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121265	NM_152892.3(LRWD1):c.613A>T (p.Thr205Ser)	LRWD1 (T205S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121266	NM_152892.3(LRWD1):c.643A>C (p.Lys215Gln)	LRWD1 (K63Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292140	NM_152892.3(LRWD1):c.644A>T (p.Lys215Met)	LRWD1 (K215M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292143	NM_152892.3(LRWD1):c.689C>T (p.Ala230Val)	LRWD1 (A78V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2609453	NM_152892.3(LRWD1):c.700C>T (p.Arg234Trp)	LRWD1 (R234W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379623	NM_152892.3(LRWD1):c.712G>A (p.Val238Ile)	LRWD1 (V238I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121268	NM_152892.3(LRWD1):c.740G>A (p.Arg247Gln)	LRWD1 (R247Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368206	NM_152892.3(LRWD1):c.755C>T (p.Pro252Leu)	LRWD1 (P100L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292141	NM_152892.3(LRWD1):c.758C>T (p.Ser253Leu)	LRWD1 (S101L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 723563	NM_152892.3(LRWD1):c.759G>A (p.Ser253=)	LRWD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407263	NM_152892.3(LRWD1):c.761C>T (p.Ala254Val)	LRWD1 (A254V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121269	NM_152892.3(LRWD1):c.793G>A (p.Asp265Asn)	LRWD1 (D113N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292142	NM_152892.3(LRWD1):c.863C>T (p.Pro288Leu)	LRWD1 (P288L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268200	NM_152892.3(LRWD1):c.967G>A (p.Val323Ile)	LRWD1 (V171I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292138	NM_152892.3(LRWD1):c.982A>T (p.Thr328Ser)	LRWD1 (T328S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365062	NM_152892.3(LRWD1):c.1045G>A (p.Ala349Thr)	LRWD1 (A349T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475066	NM_152892.3(LRWD1):c.1067C>T (p.Ala356Val)	LRWD1 (A356V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407286	NM_152892.3(LRWD1):c.1124G>A (p.Arg375Gln)	LRWD1 (R223Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508391	NM_152892.3(LRWD1):c.1135G>A (p.Val379Met)	LRWD1 (V227M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259011	NM_152892.3(LRWD1):c.1144G>A (p.Gly382Ser)	LRWD1 (G382S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121255	NM_152892.3(LRWD1):c.1213G>A (p.Glu405Lys)	LRWD1 (E253K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292623	NM_152892.3(LRWD1):c.1215G>C (p.Glu405Asp)	LRWD1 (E405D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281399	NM_152892.3(LRWD1):c.1229C>T (p.Thr410Met)	LRWD1 (T258M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292139	NM_152892.3(LRWD1):c.1246C>T (p.Arg416Trp)	LRWD1 (R264W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298058	NM_152892.3(LRWD1):c.1267G>C (p.Gly423Arg)	LRWD1 (G271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484183	NM_152892.3(LRWD1):c.1274C>T (p.Pro425Leu)	LRWD1 (P425L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531112	NM_152892.3(LRWD1):c.1280A>C (p.Gln427Pro)	LRWD1 (Q427P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259293	NM_152892.3(LRWD1):c.1354G>A (p.Ala452Thr)	LRWD1 (A300T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568610	NM_152892.3(LRWD1):c.1372C>T (p.Arg458Cys)	LRWD1 (R306C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121256	NM_152892.3(LRWD1):c.1462G>A (p.Val488Ile)	LRWD1 (V336I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 772889	NM_152892.3(LRWD1):c.1483G>T (p.Ala495Ser)	LRWD1 (A343S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3292137	NM_152892.3(LRWD1):c.1589G>T (p.Trp530Leu)	LRWD1 (W378L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606535	NM_152892.3(LRWD1):c.1595G>T (p.Gly532Val)	LRWD1 (G532V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520931	NM_152892.3(LRWD1):c.1673C>T (p.Ser558Leu)	LRWD1 (S406L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121257	NM_152892.3(LRWD1):c.1685G>A (p.Cys562Tyr)	LRWD1 (C410Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121258	NM_152892.3(LRWD1):c.1693A>G (p.Lys565Glu)	LRWD1 (K413E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256579	NM_152892.3(LRWD1):c.1744G>A (p.Val582Ile)	LRWD1 (V582I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121259	NM_152892.3(LRWD1):c.1793C>T (p.Ala598Val)	LRWD1 (A598V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121260	NM_152892.3(LRWD1):c.1798A>G (p.Thr600Ala)	LRWD1 (T600A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233163	NM_152892.3(LRWD1):c.1817C>T (p.Pro606Leu)	LRWD1 (P454L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509906	NM_152892.3(LRWD1):c.1840G>C (p.Val614Leu)	LRWD1 (V462L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121261	NM_152892.3(LRWD1):c.1907C>T (p.Thr636Met)	LRWD1 (T636M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547036	NM_152892.3(LRWD1):c.1922T>C (p.Val641Ala)	LRWD1 (V489A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 1808822	GRCh37/hg19 7q22.1(chr7:102101275-102406667)x1	ALKBH4, FAM185A +9 more	Copy number loss	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 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	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 1340289	GRCh37/hg19 7q22.1(chr7:101729998-102114340)x3	ALKBH4, CUX1 +6 more	Copy number gain	not provided	GUncertain significance
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: 82