ClinVar for Gene (Select 64848) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350270	NM_022828.5(YTHDC2):c.2004C>T (p.Ser668=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GLikely benign
Select item 3333742	NM_022828.5(YTHDC2):c.3085G>C (p.Ala1029Pro)	YTHDC2 (A1029P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333741	NM_022828.5(YTHDC2):c.3128C>T (p.Ala1043Val)	YTHDC2 (A1043V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333740	NM_022828.5(YTHDC2):c.1623G>T (p.Trp541Cys)	YTHDC2 (W379C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333739	NM_022828.5(YTHDC2):c.1257A>C (p.Glu419Asp)	YTHDC2 (E119D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333738	NM_022828.5(YTHDC2):c.4269G>C (p.Leu1423Phe)	YTHDC2 (L1261F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333737	NM_022828.5(YTHDC2):c.2380C>G (p.Leu794Val)	YTHDC2 (L632V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333736	NM_022828.5(YTHDC2):c.3053C>T (p.Pro1018Leu)	YTHDC2 (P718L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333734	NM_022828.5(YTHDC2):c.2023A>G (p.Lys675Glu)	YTHDC2 (K513E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333733	NM_022828.5(YTHDC2):c.1010A>C (p.Gln337Pro)	YTHDC2 (Q37P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333732	NM_022828.5(YTHDC2):c.2969A>G (p.Asn990Ser)	YTHDC2 (N828S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333731	NM_022828.5(YTHDC2):c.1595A>G (p.Asn532Ser)	YTHDC2 (N370S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333730	NM_022828.5(YTHDC2):c.713G>A (p.Gly238Asp)	YTHDC2 (G76D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191659	NM_022828.5(YTHDC2):c.635T>C (p.Val212Ala)	YTHDC2 (V50A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191658	NM_022828.5(YTHDC2):c.634G>C (p.Val212Leu)	YTHDC2 (V212L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191657	NM_022828.5(YTHDC2):c.551C>A (p.Ser184Tyr)	YTHDC2 (S184Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191656	NM_022828.5(YTHDC2):c.524C>T (p.Pro175Leu)	YTHDC2 (P13L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191655	NM_022828.5(YTHDC2):c.506G>A (p.Arg169Gln)	YTHDC2 (R169Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191654	NM_022828.5(YTHDC2):c.47G>T (p.Gly16Val)	YTHDC2 (G16V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3191653	NM_022828.5(YTHDC2):c.4257A>T (p.Glu1419Asp)	YTHDC2 (E1119D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191652	NM_022828.5(YTHDC2):c.4256A>T (p.Glu1419Val)	YTHDC2 (E1419V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191651	NM_022828.5(YTHDC2):c.3965G>A (p.Arg1322Gln)	YTHDC2 (R1160Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191650	NM_022828.5(YTHDC2):c.3922G>A (p.Gly1308Ser)	YTHDC2 (G1146S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191649	NM_022828.5(YTHDC2):c.3818C>T (p.Ser1273Leu)	YTHDC2 (S1111L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191648	NM_022828.5(YTHDC2):c.3608C>G (p.Ala1203Gly)	YTHDC2 (A1203G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191647	NM_022828.5(YTHDC2):c.3581G>T (p.Arg1194Met)	YTHDC2 (R1194M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191646	NM_022828.5(YTHDC2):c.3176C>T (p.Thr1059Ile)	YTHDC2 (T759I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191643	NM_022828.5(YTHDC2):c.1834C>G (p.Leu612Val)	YTHDC2 (L312V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191642	NM_022828.5(YTHDC2):c.1828A>T (p.Met610Leu)	YTHDC2 (M610L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191641	NM_022828.5(YTHDC2):c.1806A>C (p.Glu602Asp)	YTHDC2 (E302D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191640	NM_022828.5(YTHDC2):c.1189T>C (p.Tyr397His)	YTHDC2 (Y97H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 3060952	NM_022828.5(YTHDC2):c.4030-7C>A	YTHDC2	Single nucleotide variant (intron variant)	YTHDC2-related disorder	GBenign
Select item 3060912	NM_022828.5(YTHDC2):c.2460T>C (p.Asp820=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GBenign
Select item 3060561	NM_022828.5(YTHDC2):c.1867+9G>A	YTHDC2	Single nucleotide variant (intron variant)	YTHDC2-related disorder	GBenign
Select item 3060554	NM_022828.5(YTHDC2):c.1951G>C (p.Asp651His)	YTHDC2 (D351H +2 more)	Single nucleotide variant (missense variant)	YTHDC2-related disorder	GBenign
Select item 3060456	NM_022828.5(YTHDC2):c.3519T>G (p.Ser1173=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GBenign
Select item 3060266	NM_022828.5(YTHDC2):c.1689-3C>T	YTHDC2	Single nucleotide variant (intron variant)	YTHDC2-related disorder	GBenign
Select item 3060188	NM_022828.5(YTHDC2):c.4226T>A (p.Leu1409Gln)	YTHDC2 (L1109Q +2 more)	Single nucleotide variant (missense variant)	YTHDC2-related disorder	GBenign
Select item 3060019	NM_022828.5(YTHDC2):c.2589A>G (p.Thr863=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GBenign
Select item 3059449	NM_022828.5(YTHDC2):c.1693A>T (p.Thr565Ser)	YTHDC2 (T265S +2 more)	Single nucleotide variant (missense variant)	YTHDC2-related disorder	GBenign
Select item 3059374	NM_022828.5(YTHDC2):c.793C>A (p.Arg265=)	YTHDC2	Single nucleotide variant (synonymous variant +1 more)	YTHDC2-related disorder	GBenign
Select item 3059238	NM_022828.5(YTHDC2):c.1955G>A (p.Ser652Asn)	YTHDC2 (S352N +2 more)	Single nucleotide variant (missense variant)	YTHDC2-related disorder	GBenign
Select item 3057618	NM_022828.5(YTHDC2):c.676-8T>C	YTHDC2	Single nucleotide variant (intron variant)	YTHDC2-related disorder	GLikely benign
Select item 3057587	NM_022828.5(YTHDC2):c.783C>T (p.Ala261=)	YTHDC2	Single nucleotide variant (synonymous variant +1 more)	YTHDC2-related disorder	GLikely benign
Select item 3057200	NM_022828.5(YTHDC2):c.3843G>A (p.Ser1281=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GBenign
Select item 3056641	NM_022828.5(YTHDC2):c.1166A>T (p.Tyr389Phe)	YTHDC2 (Y227F +2 more)	Single nucleotide variant (missense variant)	YTHDC2-related disorder	GBenign
Select item 3056221	NM_022828.5(YTHDC2):c.1689-3del	YTHDC2	Deletion (intron variant)	YTHDC2-related disorder	GLikely benign
Select item 3056194	NM_022828.5(YTHDC2):c.3081T>G (p.Ile1027Met)	YTHDC2 (I1027M +2 more)	Single nucleotide variant (missense variant)	YTHDC2-related disorder	GBenign
Select item 3055550	NM_022828.5(YTHDC2):c.3234A>G (p.Ser1078=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GBenign
Select item 3053489	NM_022828.5(YTHDC2):c.3335A>G (p.His1112Arg)	YTHDC2 (H1112R +2 more)	Single nucleotide variant (missense variant)	YTHDC2-related disorder	GLikely benign
Select item 3051259	NM_022828.5(YTHDC2):c.794G>A (p.Arg265Gln)	YTHDC2 (R103Q +1 more)	Single nucleotide variant (missense variant +1 more)	YTHDC2-related disorder	GLikely benign
Select item 3050102	NM_022828.5(YTHDC2):c.1314G>A (p.Glu438=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GBenign
Select item 3048515	NM_022828.5(YTHDC2):c.3061A>G (p.Asn1021Asp)	YTHDC2 (N1021D +2 more)	Single nucleotide variant (missense variant)	YTHDC2-related disorder	GLikely benign
Select item 3048472	NM_022828.5(YTHDC2):c.970T>C (p.Phe324Leu)	YTHDC2 (F162L +2 more)	Single nucleotide variant (missense variant)	YTHDC2-related disorder	GLikely benign
Select item 3046648	NM_022828.5(YTHDC2):c.-6A>G	YTHDC2	Single nucleotide variant (5 prime UTR variant)	YTHDC2-related disorder	GLikely benign
Select item 3045233	NM_022828.5(YTHDC2):c.2428G>A (p.Val810Ile)	YTHDC2 (V510I +2 more)	Single nucleotide variant (missense variant)	YTHDC2-related disorder	GLikely benign
Select item 3045008	NM_022828.5(YTHDC2):c.3522G>C (p.Gly1174=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GLikely benign
Select item 3044950	NM_022828.5(YTHDC2):c.3751T>C (p.Ser1251Pro)	YTHDC2 (S1089P +2 more)	Single nucleotide variant (missense variant)	YTHDC2-related disorder	GLikely benign
Select item 3043828	NM_022828.5(YTHDC2):c.4026C>T (p.Phe1342=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GBenign
Select item 3043311	NM_022828.5(YTHDC2):c.3049-5A>T	YTHDC2	Single nucleotide variant (intron variant)	YTHDC2-related disorder	GLikely benign
Select item 3042914	NM_022828.5(YTHDC2):c.1689-5_1689-3del	YTHDC2	Deletion (intron variant)	YTHDC2-related disorder	GLikely benign
Select item 3042060	NM_022828.5(YTHDC2):c.1689-3C>A	YTHDC2	Single nucleotide variant (intron variant)	YTHDC2-related disorder	GLikely benign
Select item 3041810	NM_022828.5(YTHDC2):c.3156T>C (p.Cys1052=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GLikely benign
Select item 3041520	NM_022828.5(YTHDC2):c.1297C>T (p.Leu433=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GLikely benign
Select item 3041384	NM_022828.5(YTHDC2):c.1899C>T (p.Asp633=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GBenign
Select item 3041183	NM_022828.5(YTHDC2):c.972T>C (p.Phe324=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GBenign
Select item 3038830	NM_022828.5(YTHDC2):c.1689-8_1689-4del	YTHDC2	Deletion (intron variant)	YTHDC2-related disorder	GLikely benign
Select item 3038560	NM_022828.5(YTHDC2):c.1689-5_1689-4dup	YTHDC2	Duplication (intron variant)	YTHDC2-related disorder	GBenign
Select item 3038046	NM_022828.5(YTHDC2):c.1689-4_1689-3del	YTHDC2	Deletion (intron variant)	YTHDC2-related disorder	GLikely benign
Select item 3037545	NM_022828.5(YTHDC2):c.188-6G>A	YTHDC2	Single nucleotide variant (intron variant)	YTHDC2-related disorder	GBenign
Select item 3034726	NM_022828.5(YTHDC2):c.*1C>T	YTHDC2	Single nucleotide variant (3 prime UTR variant)	YTHDC2-related disorder	GLikely benign
Select item 2684426	GRCh37/hg19 5q22.2-22.3(chr5:111971571-113400877)x3	APC, DCP2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2655641	NM_022828.5(YTHDC2):c.2704A>C (p.Arg902=)	YTHDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655640	NM_022828.5(YTHDC2):c.2639G>A (p.Arg880His)	YTHDC2 (R580H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2655639	NM_022828.5(YTHDC2):c.1221A>G (p.Gln407=)	YTHDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593629	NM_022828.5(YTHDC2):c.3065G>A (p.Gly1022Asp)	YTHDC2 (G860D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554785	NM_022828.5(YTHDC2):c.1390T>C (p.Trp464Arg)	YTHDC2 (W164R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549883	NM_022828.5(YTHDC2):c.3366A>T (p.Leu1122Phe)	YTHDC2 (L1122F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540075	NM_022828.5(YTHDC2):c.1680A>T (p.Glu560Asp)	YTHDC2 (E260D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535980	NM_022828.5(YTHDC2):c.3178A>G (p.Ile1060Val)	YTHDC2 (I1060V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525310	NM_022828.5(YTHDC2):c.3827G>T (p.Gly1276Val)	YTHDC2 (G1276V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521427	NM_022828.5(YTHDC2):c.2053A>T (p.Ile685Phe)	YTHDC2 (I385F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513335	NM_022828.5(YTHDC2):c.1134G>A (p.Met378Ile)	YTHDC2 (M216I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513065	NM_022828.5(YTHDC2):c.2647A>G (p.Met883Val)	YTHDC2 (M721V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485975	NM_022828.5(YTHDC2):c.644T>C (p.Val215Ala)	YTHDC2 (V215A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479410	NM_022828.5(YTHDC2):c.3167C>T (p.Thr1056Met)	YTHDC2 (T1056M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408000	NM_022828.5(YTHDC2):c.422G>A (p.Arg141His)	YTHDC2 (R141H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403398	NM_022828.5(YTHDC2):c.730T>G (p.Phe244Val)	YTHDC2 (F244V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402587	NM_022828.5(YTHDC2):c.3406C>T (p.Arg1136Cys)	YTHDC2 (R836C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393873	NM_022828.5(YTHDC2):c.1609G>A (p.Ala537Thr)	YTHDC2 (A375T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387678	NM_022828.5(YTHDC2):c.917C>T (p.Thr306Met)	YTHDC2 (T306M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387570	NM_022828.5(YTHDC2):c.1647C>G (p.His549Gln)	YTHDC2 (H387Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379294	NM_022828.5(YTHDC2):c.3263A>G (p.Asp1088Gly)	YTHDC2 (D788G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369347	NM_022828.5(YTHDC2):c.3457A>G (p.Ile1153Val)	YTHDC2 (I1153V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2354009	NM_022828.5(YTHDC2):c.2654G>C (p.Cys885Ser)	YTHDC2 (C723S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346552	NM_022828.5(YTHDC2):c.1178A>C (p.Glu393Ala)	YTHDC2 (E231A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342720	NM_022828.5(YTHDC2):c.4265C>T (p.Pro1422Leu)	YTHDC2 (P1422L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333500	NM_022828.5(YTHDC2):c.4281C>A (p.Asn1427Lys)	YTHDC2 (N1427K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328316	NM_022828.5(YTHDC2):c.3295A>G (p.Thr1099Ala)	YTHDC2 (T799A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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