23504[HGNC] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 152819	GRCh38/hg38 10q11.21-11.22(chr10:45247429-45768908)x3	ALOX5, LOC102724323 +14 more	Copy number gain	See cases	GLikely benign
Select item 2318228	NM_174890.4(ZFAND4):c.2146A>G (p.Asn716Asp)	ZFAND4 (N716D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286768	NM_174890.4(ZFAND4):c.2140G>A (p.Glu714Lys)	ZFAND4 (E640K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301105	NM_174890.4(ZFAND4):c.2089A>G (p.Thr697Ala)	ZFAND4 (T697A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558413	NM_174890.4(ZFAND4):c.2054G>A (p.Gly685Glu)	ZFAND4 (G685E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334308	NM_174890.4(ZFAND4):c.2036G>A (p.Ser679Asn)	ZFAND4 (S679N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192859	NM_174890.4(ZFAND4):c.2017A>G (p.Lys673Glu)	ZFAND4 (K599E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615412	NM_174890.4(ZFAND4):c.1973A>G (p.Gln658Arg)	ZFAND4 (Q584R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334311	NM_174890.4(ZFAND4):c.1954C>A (p.Pro652Thr)	ZFAND4 (P652T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334313	NM_174890.4(ZFAND4):c.1924G>A (p.Val642Ile)	ZFAND4 (V642I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492208	NM_174890.4(ZFAND4):c.1919A>G (p.Lys640Arg)	ZFAND4 (K566R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192857	NM_174890.4(ZFAND4):c.1870T>G (p.Leu624Val)	ZFAND4 (L550V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600629	NM_174890.4(ZFAND4):c.1849T>A (p.Leu617Ile)	ZFAND4 (L543I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301522	NM_174890.4(ZFAND4):c.1848G>T (p.Gln616His)	ZFAND4 (Q542H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606020	NM_174890.4(ZFAND4):c.1841C>G (p.Ser614Cys)	ZFAND4 (S540C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192856	NM_174890.4(ZFAND4):c.1723G>A (p.Gly575Arg)	ZFAND4 (G501R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2245842	NM_174890.4(ZFAND4):c.1712C>A (p.Ala571Asp)	ZFAND4 (A571D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291726	NM_174890.4(ZFAND4):c.1660A>T (p.Asn554Tyr)	ZFAND4 (N554Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611709	NM_174890.4(ZFAND4):c.1609A>G (p.Arg537Gly)	ZFAND4 (R537G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601334	NM_174890.4(ZFAND4):c.1568C>T (p.Thr523Ile)	ZFAND4 (T523I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270693	NM_174890.4(ZFAND4):c.1474A>G (p.Arg492Gly)	ZFAND4 (R492G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598754	NM_174890.4(ZFAND4):c.1445C>T (p.Ser482Leu)	ZFAND4 (S408L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551540	NM_174890.4(ZFAND4):c.1436C>T (p.Ala479Val)	ZFAND4 (A405V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214290	NM_174890.4(ZFAND4):c.1433C>A (p.Ser478Tyr)	ZFAND4 (S404Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493988	NM_174890.4(ZFAND4):c.1426C>T (p.Arg476Cys)	ZFAND4 (R476C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640424	NM_174890.4(ZFAND4):c.1385G>A (p.Arg462Gln)	ZFAND4 (R388Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3334310	NM_174890.4(ZFAND4):c.1288A>G (p.Asn430Asp)	ZFAND4 (N430D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293684	NM_174890.4(ZFAND4):c.1201C>G (p.Leu401Val)	ZFAND4 (L327V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192855	NM_174890.4(ZFAND4):c.1151C>T (p.Pro384Leu)	ZFAND4 (P384L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315738	NM_174890.4(ZFAND4):c.1066G>A (p.Val356Ile)	ZFAND4 (V282I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483975	NM_174890.4(ZFAND4):c.1052A>G (p.Glu351Gly)	ZFAND4 (E277G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541036	NM_174890.4(ZFAND4):c.1045G>A (p.Asp349Asn)	ZFAND4 (D275N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561135	NM_174890.4(ZFAND4):c.1004T>C (p.Val335Ala)	ZFAND4 (V261A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289291	NM_174890.4(ZFAND4):c.966C>G (p.Ser322Arg)	ZFAND4 (S322R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210943	NM_174890.4(ZFAND4):c.902C>T (p.Thr301Ile)	ZFAND4 (T301I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394717	NM_174890.4(ZFAND4):c.887T>A (p.Ile296Asn)	ZFAND4 (I296N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407891	NM_174890.4(ZFAND4):c.745C>T (p.His249Tyr)	ZFAND4 (H175Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334312	NM_174890.4(ZFAND4):c.706C>G (p.Leu236Val)	ZFAND4 (L236V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192867	NM_174890.4(ZFAND4):c.704A>G (p.Asn235Ser)	ZFAND4 (N161S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192866	NM_174890.4(ZFAND4):c.669G>C (p.Lys223Asn)	ZFAND4 (K223N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406131	NM_174890.4(ZFAND4):c.665A>T (p.Asn222Ile)	ZFAND4 (N148I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192865	NM_174890.4(ZFAND4):c.661A>G (p.Met221Val)	ZFAND4 (M221V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271777	NM_174890.4(ZFAND4):c.626C>G (p.Ser209Cys)	ZFAND4 (S135C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267042	NM_174890.4(ZFAND4):c.605A>G (p.Asp202Gly)	ZFAND4 (D128G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192864	NM_174890.4(ZFAND4):c.604G>C (p.Asp202His)	ZFAND4 (D202H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591956	NM_174890.4(ZFAND4):c.574G>C (p.Gly192Arg)	ZFAND4 (G118R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533047	NM_174890.4(ZFAND4):c.572G>A (p.Gly191Asp)	ZFAND4 (G117D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370362	NM_174890.4(ZFAND4):c.544C>T (p.Arg182Trp)	ZFAND4 (R182W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192863	NM_174890.4(ZFAND4):c.487A>G (p.Thr163Ala)	ZFAND4 (T163A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192862	NM_174890.4(ZFAND4):c.485G>A (p.Gly162Asp)	ZFAND4 (G162D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192860	NM_174890.4(ZFAND4):c.450A>C (p.Gln150His)	ZFAND4 (Q150H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334309	NM_174890.4(ZFAND4):c.410G>A (p.Ser137Asn)	ZFAND4 (S137N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3334314	NM_174890.4(ZFAND4):c.388G>A (p.Val130Ile)	ZFAND4 (V56I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242644	NM_174890.4(ZFAND4):c.374C>T (p.Ser125Phe)	ZFAND4 (S125F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242643	NM_174890.4(ZFAND4):c.372T>A (p.Asp124Glu)	ZFAND4 (D124E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496064	NM_174890.4(ZFAND4):c.236A>G (p.Asn79Ser)	ZFAND4 (N79S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208715	NM_174890.4(ZFAND4):c.74G>T (p.Cys25Phe)	ZFAND4 (C25F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521147	NM_174890.4(ZFAND4):c.58T>C (p.Tyr20His)	ZFAND4 (Y20H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic
Select item 563739	GRCh37/hg19 10q11.21-11.22(chr10:45844836-46215431)x3	ZFAND4, MARCHF8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 443047	GRCh37/hg19 10q11.21-11.22(chr10:45997573-46293591)x1	MARCHF8, WASHC2C +1 more	Copy number loss	See cases	GLikely benign
Select item 443043	GRCh37/hg19 10q11.21-11.22(chr10:45618211-46293591)x3	ALOX5, MARCHF8 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 77