24721[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, DCP2 +119 more	Copy number loss	See cases	GPathogenic
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 776057	NM_022828.5(YTHDC2):c.35C>T (p.Pro12Leu)	YTHDC2 (P12L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 3037545	NM_022828.5(YTHDC2):c.188-6G>A	YTHDC2	Single nucleotide variant (intron variant)	YTHDC2-related disorder	GBenign
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 2209297	NM_022828.5(YTHDC2):c.466G>A (p.Val156Ile)	YTHDC2 (V156I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299236	NM_022828.5(YTHDC2):c.491G>A (p.Ser164Asn)	YTHDC2 (S2N +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 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 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 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 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 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 3057618	NM_022828.5(YTHDC2):c.676-8T>C	YTHDC2	Single nucleotide variant (intron variant)	YTHDC2-related disorder	GLikely benign
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 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 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 3059374	NM_022828.5(YTHDC2):c.793C>A (p.Arg265=)	YTHDC2	Single nucleotide variant (synonymous variant +1 more)	YTHDC2-related disorder	GBenign
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 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 2288394	NM_022828.5(YTHDC2):c.923C>T (p.Ser308Leu)	YTHDC2 (S146L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776058	NM_022828.5(YTHDC2):c.942C>T (p.Ile314=)	YTHDC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 744406	NM_022828.5(YTHDC2):c.946-4A>G	YTHDC2	Single nucleotide variant (intron variant)	not provided	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 3041183	NM_022828.5(YTHDC2):c.972T>C (p.Phe324=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GBenign
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 708427	NM_022828.5(YTHDC2):c.1065C>G (p.Leu355=)	YTHDC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 792008	NM_022828.5(YTHDC2):c.1164A>G (p.Gly388=)	YTHDC2	Single nucleotide variant (synonymous variant)	not provided	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 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 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 2318746	NM_022828.5(YTHDC2):c.1198G>A (p.Glu400Lys)	YTHDC2 (E400K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655639	NM_022828.5(YTHDC2):c.1221A>G (p.Gln407=)	YTHDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3041520	NM_022828.5(YTHDC2):c.1297C>T (p.Leu433=)	YTHDC2	Single nucleotide variant (synonymous variant)	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 2272509	NM_022828.5(YTHDC2):c.1377T>G (p.Asn459Lys)	YTHDC2 (N159K +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 2293983	NM_022828.5(YTHDC2):c.1426A>C (p.Ile476Leu)	YTHDC2 (I176L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733689	NM_022828.5(YTHDC2):c.1452C>T (p.Ala484=)	YTHDC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776059	NM_022828.5(YTHDC2):c.1496-9T>C	YTHDC2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 3038560	NM_022828.5(YTHDC2):c.1689-5_1689-4dup	YTHDC2	Duplication (intron 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 3042914	NM_022828.5(YTHDC2):c.1689-5_1689-3del	YTHDC2	Deletion (intron variant)	YTHDC2-related disorder	GLikely benign
Select item 3038046	NM_022828.5(YTHDC2):c.1689-4_1689-3del	YTHDC2	Deletion (intron variant)	YTHDC2-related disorder	GLikely benign
Select item 3060266	NM_022828.5(YTHDC2):c.1689-3C>T	YTHDC2	Single nucleotide variant (intron 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 3042060	NM_022828.5(YTHDC2):c.1689-3C>A	YTHDC2	Single nucleotide variant (intron variant)	YTHDC2-related disorder	GLikely benign
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 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 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 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 2283402	NM_022828.5(YTHDC2):c.1853A>G (p.His618Arg)	YTHDC2 (H618R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060561	NM_022828.5(YTHDC2):c.1867+9G>A	YTHDC2	Single nucleotide variant (intron variant)	YTHDC2-related disorder	GBenign
Select item 792009	NM_022828.5(YTHDC2):c.1868-9T>C	YTHDC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3041384	NM_022828.5(YTHDC2):c.1899C>T (p.Asp633=)	YTHDC2	Single nucleotide variant (synonymous 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 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 3350270	NM_022828.5(YTHDC2):c.2004C>T (p.Ser668=)	YTHDC2	Single nucleotide variant (synonymous variant)	YTHDC2-related disorder	GLikely benign
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 2285615	NM_022828.5(YTHDC2):c.2045G>A (p.Arg682Gln)	YTHDC2 (R520Q +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 2227674	NM_022828.5(YTHDC2):c.2066A>G (p.Asn689Ser)	YTHDC2 (N389S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300869	NM_022828.5(YTHDC2):c.2083A>G (p.Ile695Val)	YTHDC2 (I695V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221615	NM_022828.5(YTHDC2):c.2116T>G (p.Ser706Ala)	YTHDC2 (S406A +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 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 3060912	NM_022828.5(YTHDC2):c.2460T>C (p.Asp820=)	YTHDC2	Single nucleotide variant (synonymous 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 161764	NM_022828.5(YTHDC2):c.2617C>A (p.Pro873Thr)	YTHDC2 (P873T +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
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 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 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 2655641	NM_022828.5(YTHDC2):c.2704A>C (p.Arg902=)	YTHDC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2253955	NM_022828.5(YTHDC2):c.2908G>C (p.Val970Leu)	YTHDC2 (V970L +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 3043311	NM_022828.5(YTHDC2):c.3049-5A>T	YTHDC2	Single nucleotide variant (intron variant)	YTHDC2-related disorder	GLikely benign
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 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 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 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 3333742	NM_022828.5(YTHDC2):c.3085G>C (p.Ala1029Pro)	YTHDC2 (A1029P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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