ClinVar for Gene (Select 9204) - ClinVar

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Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334828	NM_007167.4(ZMYM6):c.829A>C (p.Lys277Gln)	ZMYM6 (K277Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334827	NM_007167.4(ZMYM6):c.3469C>T (p.Arg1157Cys)	ZMYM6 (R1157C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334826	NM_007167.4(ZMYM6):c.262A>G (p.Ile88Val)	ZMYM6 (I88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334825	NM_007167.4(ZMYM6):c.2010T>G (p.Asp670Glu)	ZMYM6 (D670E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334824	NM_007167.4(ZMYM6):c.1136C>T (p.Pro379Leu)	ZMYM6 (P379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334823	NM_007167.4(ZMYM6):c.113A>G (p.Gln38Arg)	ZMYM6 (Q38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334822	NM_007167.4(ZMYM6):c.740G>C (p.Gly247Ala)	ZMYM6 (G247A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193829	NM_007167.4(ZMYM6):c.86A>G (p.Asn29Ser)	ZMYM6 (N29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193828	NM_007167.4(ZMYM6):c.839G>C (p.Arg280Thr)	ZMYM6 (R280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193827	NM_007167.4(ZMYM6):c.667A>G (p.Lys223Glu)	ZMYM6 (K223E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193826	NM_007167.4(ZMYM6):c.557C>T (p.Thr186Ile)	ZMYM6 (T186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193824	NM_007167.4(ZMYM6):c.2312G>A (p.Cys771Tyr)	ZMYM6 (C771Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193823	NM_007167.4(ZMYM6):c.2176G>A (p.Ala726Thr)	ZMYM6 (A726T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193822	NM_007167.4(ZMYM6):c.1895T>C (p.Met632Thr)	ZMYM6 (M632T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193821	NM_007167.4(ZMYM6):c.183G>T (p.Gln61His)	ZMYM6 (Q61H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193820	NM_007167.4(ZMYM6):c.1794C>A (p.Asp598Glu)	ZMYM6 (D598E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193819	NM_007167.4(ZMYM6):c.1529G>T (p.Arg510Leu)	ZMYM6 (R510L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057236	NM_007167.4(ZMYM6):c.94-5del	ZMYM6	Deletion (intron variant)	ZMYM6-related disorder	GBenign
Select item 3056816	NM_007167.4(ZMYM6):c.3697G>A (p.Glu1233Lys)	ZMYM6 (E1233K)	Single nucleotide variant (missense variant)	ZMYM6-related disorder	GBenign
Select item 3056208	NM_007167.4(ZMYM6):c.1002A>G (p.Leu334=)	ZMYM6	Single nucleotide variant (synonymous variant)	ZMYM6-related disorder	GBenign
Select item 3055374	NM_007167.4(ZMYM6):c.1814-4T>A	ZMYM6	Single nucleotide variant (intron variant)	ZMYM6-related disorder	GBenign
Select item 3055336	NM_007167.4(ZMYM6):c.1878A>C (p.Pro626=)	ZMYM6	Single nucleotide variant (synonymous variant)	ZMYM6-related disorder	GLikely benign
Select item 3053011	NM_007167.4(ZMYM6):c.94-6_94-5del	ZMYM6	Deletion (intron variant)	ZMYM6-related disorder	GLikely benign
Select item 3052001	NM_007167.4(ZMYM6):c.3065T>C (p.Leu1022Ser)	ZMYM6 (L1022S)	Single nucleotide variant (missense variant)	ZMYM6-related disorder	GLikely benign
Select item 3044803	NM_007167.4(ZMYM6):c.*3A>G	ZMYM6	Single nucleotide variant (3 prime UTR variant)	ZMYM6-related disorder	GBenign
Select item 3044718	NM_007167.4(ZMYM6):c.3012A>G (p.Thr1004=)	ZMYM6	Single nucleotide variant (synonymous variant)	ZMYM6-related disorder	GLikely benign
Select item 3043412	NM_007167.4(ZMYM6):c.2912A>C (p.Asn971Thr)	ZMYM6 (N971T)	Single nucleotide variant (missense variant)	ZMYM6-related disorder	GLikely benign
Select item 3043128	NM_007167.4(ZMYM6):c.2210G>C (p.Arg737Thr)	ZMYM6 (R737T)	Single nucleotide variant (missense variant)	ZMYM6-related disorder	GBenign
Select item 3042312	NM_007167.4(ZMYM6):c.1979A>G (p.Lys660Arg)	ZMYM6 (K660R)	Single nucleotide variant (missense variant)	ZMYM6-related disorder	GLikely benign
Select item 3041852	NM_007167.4(ZMYM6):c.2806C>T (p.Arg936Cys)	ZMYM6 (R936C)	Single nucleotide variant (missense variant)	ZMYM6-related disorder	GBenign
Select item 3041455	NM_007167.4(ZMYM6):c.82G>C (p.Asp28His)	ZMYM6 (D28H)	Single nucleotide variant (missense variant)	ZMYM6-related disorder	GLikely benign
Select item 3041202	NM_007167.4(ZMYM6):c.1341+10G>A	ZMYM6	Single nucleotide variant (intron variant)	ZMYM6-related disorder	GBenign
Select item 3041172	NM_007167.4(ZMYM6):c.1091A>C (p.Asn364Thr)	ZMYM6 (N364T)	Single nucleotide variant (missense variant)	ZMYM6-related disorder	GBenign
Select item 3038869	NM_007167.4(ZMYM6):c.67A>G (p.Ile23Val)	ZMYM6 (I23V)	Single nucleotide variant (missense variant)	ZMYM6-related disorder	GBenign
Select item 3037478	NM_007167.4(ZMYM6):c.3318T>C (p.Asp1106=)	ZMYM6	Single nucleotide variant (synonymous variant)	ZMYM6-related disorder	GLikely benign
Select item 3037385	NM_007167.4(ZMYM6):c.2568T>C (p.Tyr856=)	ZMYM6	Single nucleotide variant (synonymous variant)	ZMYM6-related disorder	GBenign
Select item 3035215	NM_007167.4(ZMYM6):c.3032T>G (p.Phe1011Cys)	ZMYM6 (F1011C)	Single nucleotide variant (missense variant)	ZMYM6-related disorder	GBenign
Select item 3033984	NM_007167.4(ZMYM6):c.94-4A>T	ZMYM6	Single nucleotide variant (intron variant)	ZMYM6-related disorder	GLikely benign
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2617531	NM_007167.4(ZMYM6):c.1638G>A (p.Met546Ile)	ZMYM6 (M546I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616935	NM_007167.4(ZMYM6):c.1205G>A (p.Arg402His)	ZMYM6 (R402H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612084	NM_007167.4(ZMYM6):c.848C>G (p.Ala283Gly)	ZMYM6 (A283G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595693	NM_007167.4(ZMYM6):c.1276G>A (p.Val426Ile)	ZMYM6 (V426I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589552	NM_007167.4(ZMYM6):c.1286A>G (p.Lys429Arg)	ZMYM6 (K429R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588944	NM_007167.4(ZMYM6):c.1889G>A (p.Ser630Asn)	ZMYM6 (S630N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552196	NM_007167.4(ZMYM6):c.3493A>G (p.Met1165Val)	ZMYM6 (M1165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548826	NM_007167.4(ZMYM6):c.1204C>T (p.Arg402Cys)	ZMYM6 (R402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535676	NM_007167.4(ZMYM6):c.2437T>C (p.Cys813Arg)	ZMYM6 (C813R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526744	NM_007167.4(ZMYM6):c.379C>G (p.Pro127Ala)	ZMYM6 (P127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520119	NM_007167.4(ZMYM6):c.1208G>T (p.Gly403Val)	ZMYM6 (G403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520118	NM_007167.4(ZMYM6):c.1207G>T (p.Gly403Cys)	ZMYM6 (G403C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518292	NM_007167.4(ZMYM6):c.646T>C (p.Cys216Arg)	ZMYM6 (C216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492007	NM_007167.4(ZMYM6):c.2023C>G (p.Pro675Ala)	ZMYM6 (P675A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491170	NM_007167.4(ZMYM6):c.1529G>A (p.Arg510Gln)	ZMYM6 (R510Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485429	NM_007167.4(ZMYM6):c.3814A>G (p.Met1272Val)	ZMYM6 (M1272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410902	NM_007167.4(ZMYM6):c.1525G>C (p.Glu509Gln)	ZMYM6 (E509Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406502	NM_007167.4(ZMYM6):c.638A>G (p.His213Arg)	ZMYM6 (H213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397506	NM_007167.4(ZMYM6):c.230G>A (p.Ser77Asn)	ZMYM6 (S77N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393913	NM_007167.4(ZMYM6):c.215C>T (p.Ala72Val)	ZMYM6 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393025	NM_007167.4(ZMYM6):c.824T>C (p.Leu275Pro)	ZMYM6 (L275P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387084	NM_007167.4(ZMYM6):c.3398C>T (p.Thr1133Ile)	ZMYM6 (T1133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361363	NM_007167.4(ZMYM6):c.637C>T (p.His213Tyr)	ZMYM6 (H213Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357918	NM_007167.4(ZMYM6):c.903T>G (p.Ile301Met)	ZMYM6 (I301M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323281	NM_007167.4(ZMYM6):c.3914C>T (p.Ala1305Val)	ZMYM6 (A1305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322836	NM_007167.4(ZMYM6):c.254C>T (p.Ala85Val)	ZMYM6 (A85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311770	NM_007167.4(ZMYM6):c.643C>A (p.Leu215Ile)	ZMYM6 (L215I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303803	NM_007167.4(ZMYM6):c.463C>T (p.Arg155Cys)	ZMYM6 (R155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300334	NM_007167.4(ZMYM6):c.3626G>A (p.Arg1209His)	ZMYM6 (R1209H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283515	NM_007167.4(ZMYM6):c.3287A>G (p.Lys1096Arg)	ZMYM6 (K1096R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282500	NM_007167.4(ZMYM6):c.1708G>C (p.Glu570Gln)	ZMYM6 (E570Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278296	NM_007167.4(ZMYM6):c.320A>G (p.His107Arg)	ZMYM6 (H107R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270440	NM_007167.4(ZMYM6):c.2053C>T (p.Leu685Phe)	ZMYM6 (L685F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269220	NM_007167.4(ZMYM6):c.1049T>C (p.Val350Ala)	ZMYM6 (V350A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268501	NM_007167.4(ZMYM6):c.1316C>G (p.Thr439Arg)	ZMYM6 (T439R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262196	NM_007167.4(ZMYM6):c.2053C>A (p.Leu685Ile)	ZMYM6 (L685I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235954	NM_007167.4(ZMYM6):c.2140C>G (p.Gln714Glu)	ZMYM6 (Q714E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213350	NM_007167.4(ZMYM6):c.3592T>G (p.Phe1198Val)	ZMYM6 (F1198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211185	NM_007167.4(ZMYM6):c.3845A>G (p.Tyr1282Cys)	ZMYM6 (Y1282C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 806420	GRCh37/hg19 1p34.3(chr1:35321300-35944813)x1	SMIM12, ZMYM4 +6 more	Copy number loss	not provided	GUncertain significance
Select item 749072	NM_007167.4(ZMYM6):c.2365T>C (p.Leu789=)	ZMYM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713264	NM_007167.4(ZMYM6):c.2805T>C (p.Cys935=)	ZMYM6	Single nucleotide variant (synonymous variant)	ZMYM6-related disorder +1 more	GBenign
Select item 712419	NM_007167.4(ZMYM6):c.179-5G>C	ZMYM6	Single nucleotide variant (intron variant)	ZMYM6-related disorder +1 more	GBenign
Select item 686407	GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3	DLGAP3, GJA4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	GJB3, PIK3R3 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 93