57623[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 2518620	NM_020863.4(ZFAT):c.3683T>C (p.Met1228Thr)	ZFAT (M1166T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378056	NM_020863.4(ZFAT):c.3682A>T (p.Met1228Leu)	ZFAT (M1166L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1698802	NM_020863.4(ZFAT):c.3653C>T (p.Ser1218Leu)	ZFAT (S1120L +3 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune thyroid disease, susceptibility to, 3	GUncertain significance
Select item 2513887	NM_020863.4(ZFAT):c.3620C>T (p.Thr1207Met)	ZFAT (T1207M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713509	NM_020863.4(ZFAT):c.3555G>A (p.Ala1185=)	ZFAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2397072	NM_020863.4(ZFAT):c.3542C>T (p.Thr1181Met)	ZFAT (T1169M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480615	NM_020863.4(ZFAT):c.3533T>C (p.Ile1178Thr)	ZFAT (I1166T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296237	NM_020863.4(ZFAT):c.3507G>C (p.Glu1169Asp)	ZFAT (E1071D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192884	NM_020863.4(ZFAT):c.3506A>C (p.Glu1169Ala)	ZFAT (E1157A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778408	NM_020863.4(ZFAT):c.3474G>A (p.Thr1158=)	ZFAT	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2322455	NM_020863.4(ZFAT):c.3473C>T (p.Thr1158Met)	ZFAT (T1096M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462452	NM_020863.4(ZFAT):c.3380C>T (p.Thr1127Met)	ZFAT (T1127M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510338	NM_020863.4(ZFAT):c.3365A>G (p.Asp1122Gly)	ZFAT (D1060G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374038	NM_020863.4(ZFAT):c.3364G>A (p.Asp1122Asn)	ZFAT (D1060N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334327	NM_020863.4(ZFAT):c.3362G>A (p.Gly1121Asp)	ZFAT (G1109D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369327	NM_020863.4(ZFAT):c.3329C>T (p.Ala1110Val)	ZFAT (A1098V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471541	NM_020863.4(ZFAT):c.3253G>A (p.Glu1085Lys)	ZFAT (E1073K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205550	NM_020863.4(ZFAT):c.3218G>A (p.Gly1073Glu)	ZFAT (G1011E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334328	NM_020863.4(ZFAT):c.3159A>T (p.Lys1053Asn)	ZFAT (K991N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780780	NM_020863.4(ZFAT):c.3147A>G (p.Val1049=)	ZFAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2324238	NM_020863.4(ZFAT):c.3127T>A (p.Cys1043Ser)	ZFAT (C1031S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607270	NM_020863.4(ZFAT):c.3082G>A (p.Gly1028Arg)	ZFAT (G966R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392710	NM_020863.4(ZFAT):c.3080C>G (p.Thr1027Ser)	ZFAT (T1015S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3192882	NM_020863.4(ZFAT):c.3040A>C (p.Asn1014His)	ZFAT (N1002H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526709	NM_020863.4(ZFAT):c.2999A>G (p.His1000Arg)	ZFAT (H1000R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192881	NM_020863.4(ZFAT):c.2983C>T (p.Arg995Cys)	ZFAT (R983C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252469	NM_020863.4(ZFAT):c.2936C>T (p.Pro979Leu)	ZFAT (P979L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315895	NM_020863.4(ZFAT):c.2923G>T (p.Ala975Ser)	LOC130001234, ZFAT (A913S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1050443	NM_020863.4(ZFAT):c.2906C>T (p.Thr969Met)	LOC130001234, ZFAT (T907M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3334326	NM_020863.4(ZFAT):c.2851A>G (p.Thr951Ala)	ZFAT (T889A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192880	NM_020863.4(ZFAT):c.2755C>T (p.Arg919Cys)	ZFAT (R857C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326512	NM_020863.4(ZFAT):c.2735C>T (p.Ser912Phe)	ZFAT (S850F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486903	NM_020863.4(ZFAT):c.2483G>C (p.Arg828Thr)	ZFAT (R766T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1084	NM_020863.4(ZFAT):c.2475+2472T>A	ZFAT	Single nucleotide variant (intron variant)	Autoimmune thyroid disease, susceptibility to, 3	Grisk factor
Select item 3192879	NM_020863.4(ZFAT):c.2410G>A (p.Gly804Ser)	ZFAT, ZFAT-AS1 (G742S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334330	NM_020863.4(ZFAT):c.2358A>T (p.Lys786Asn)	ZFAT, ZFAT-AS1 (K786N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356700	NM_020863.4(ZFAT):c.2176C>G (p.Gln726Glu)	ZFAT (Q664E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549615	NM_020863.4(ZFAT):c.2144T>C (p.Phe715Ser)	ZFAT (F715S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404271	NM_020863.4(ZFAT):c.2074G>A (p.Gly692Arg)	ZFAT (G680R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 791169	NM_020863.4(ZFAT):c.2015G>A (p.Arg672Lys)	ZFAT (R660K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2597903	NM_020863.4(ZFAT):c.2007T>A (p.Asp669Glu)	ZFAT (D607E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192878	NM_020863.4(ZFAT):c.1943A>T (p.His648Leu)	LOC130001237, ZFAT (H648L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334329	NM_020863.4(ZFAT):c.1942C>T (p.His648Tyr)	LOC130001237, ZFAT (H586Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289469	NM_020863.4(ZFAT):c.1874A>G (p.Gln625Arg)	LOC130001237, ZFAT (Q613R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192877	NM_020863.4(ZFAT):c.1852A>G (p.Met618Val)	LOC130001237, ZFAT (M556V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226811	NM_020863.4(ZFAT):c.1793T>C (p.Leu598Ser)	LOC130001237, ZFAT (L536S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725598	NM_020863.4(ZFAT):c.1741G>A (p.Val581Met)	LOC130001237, ZFAT (V581M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2348852	NM_020863.4(ZFAT):c.1732G>A (p.Glu578Lys)	LOC130001237, ZFAT (E516K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310866	NM_020863.4(ZFAT):c.1704A>C (p.Glu568Asp)	LOC130001237, ZFAT (E568D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406407	NM_020863.4(ZFAT):c.1702G>A (p.Glu568Lys)	LOC130001237, ZFAT (E568K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192875	NM_020863.4(ZFAT):c.1694C>T (p.Pro565Leu)	ZFAT (P503L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334323	NM_020863.4(ZFAT):c.1655C>T (p.Pro552Leu)	ZFAT (P490L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610217	NM_020863.4(ZFAT):c.1645C>T (p.Pro549Ser)	ZFAT (P487S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781660	NM_020863.4(ZFAT):c.1636C>T (p.Arg546Trp)	ZFAT (R534W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 786562	NM_020863.4(ZFAT):c.1534C>T (p.Leu512=)	ZFAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3192874	NM_020863.4(ZFAT):c.1487A>T (p.Gln496Leu)	LOC130001238, ZFAT (Q484L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552681	NM_020863.4(ZFAT):c.1475G>T (p.Ser492Ile)	LOC130001238, ZFAT (S492I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479998	NM_020863.4(ZFAT):c.1427A>G (p.His476Arg)	LOC130001238, ZFAT (H464R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192873	NM_020863.4(ZFAT):c.1424C>T (p.Thr475Ile)	LOC130001238, ZFAT (T413I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403619	NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys)	LOC130001238, ZFAT (S458C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3192872	NM_020863.4(ZFAT):c.1390C>T (p.Arg464Cys)	LOC130001238, ZFAT (R402C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354925	NM_020863.4(ZFAT):c.1390C>G (p.Arg464Gly)	LOC130001238, ZFAT (R402G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334319	NM_020863.4(ZFAT):c.1384G>A (p.Val462Ile)	LOC130001238, ZFAT (V450I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3192871	NM_020863.4(ZFAT):c.1370T>C (p.Val457Ala)	LOC130001238, ZFAT (V395A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470749	NM_020863.4(ZFAT):c.1258G>A (p.Asp420Asn)	ZFAT (D420N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267987	NM_020863.4(ZFAT):c.1258G>T (p.Asp420Tyr)	ZFAT (D358Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530599	NM_020863.4(ZFAT):c.1201C>G (p.Gln401Glu)	ZFAT (Q389E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3064173	NM_020863.4(ZFAT):c.1199G>A (p.Arg400Gln)	ZFAT (R338Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autoimmune thyroid disease, susceptibility to, 3	GUncertain significance
Select item 2349696	NM_020863.4(ZFAT):c.1127C>T (p.Ala376Val)	ZFAT (A314V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2322202	NM_020863.4(ZFAT):c.1121G>A (p.Arg374Gln)	ZFAT (R362Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786124	NM_020863.4(ZFAT):c.1054A>G (p.Ile352Val)	ZFAT (I290V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2478458	NM_020863.4(ZFAT):c.1031A>C (p.His344Pro)	ZFAT (H344P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334321	NM_020863.4(ZFAT):c.989A>G (p.Tyr330Cys)	ZFAT (Y318C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658846	NM_020863.4(ZFAT):c.981C>T (p.Ala327=)	ZFAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3334320	NM_020863.4(ZFAT):c.944A>G (p.Asn315Ser)	ZFAT (N253S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192889	NM_020863.4(ZFAT):c.904C>A (p.Pro302Thr)	ZFAT (P240T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553559	NM_020863.4(ZFAT):c.900G>T (p.Lys300Asn)	ZFAT (K238N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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