ClinVar for Gene (Select 79072) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3092994	NM_024091.4(FASTKD3):c.859A>G (p.Ile287Val)	FASTKD3, MTRR (I287V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092993	NM_024091.4(FASTKD3):c.744G>T (p.Leu248Phe)	FASTKD3, MTRR (L248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092992	NM_024091.4(FASTKD3):c.632G>T (p.Gly211Val)	FASTKD3, MTRR (G211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092990	NM_024091.4(FASTKD3):c.224C>T (p.Pro75Leu)	FASTKD3, MTRR (P75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092989	NM_024091.4(FASTKD3):c.1556A>C (p.Lys519Thr)	FASTKD3, MTRR (K519T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092988	NM_024091.4(FASTKD3):c.1408T>C (p.Phe470Leu)	FASTKD3, MTRR (F470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092985	NM_024091.4(FASTKD3):c.1103C>T (p.Pro368Leu)	FASTKD3, MTRR (P368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062869	GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	ADAMTS16, ADCY2 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2606059	NM_024091.4(FASTKD3):c.1150C>T (p.Leu384Phe)	FASTKD3, MTRR (L384F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605533	NM_024091.4(FASTKD3):c.352T>C (p.Phe118Leu)	FASTKD3, MTRR (F118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592753	NM_024091.4(FASTKD3):c.1430G>A (p.Arg477Gln)	FASTKD3, MTRR (R477Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2511399	NM_024091.4(FASTKD3):c.629A>G (p.Lys210Arg)	FASTKD3, MTRR (K210R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495432	NM_024091.4(FASTKD3):c.989C>G (p.Thr330Ser)	FASTKD3, MTRR (T330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477268	NM_024091.4(FASTKD3):c.658A>G (p.Ile220Val)	FASTKD3, MTRR (I220V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476538	NM_024091.4(FASTKD3):c.1026A>G (p.Ile342Met)	FASTKD3, MTRR (I342M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408551	NM_024091.4(FASTKD3):c.335C>T (p.Ser112Leu)	FASTKD3, MTRR (S112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401406	NM_024091.4(FASTKD3):c.1162A>G (p.Ile388Val)	FASTKD3, MTRR (I388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397179	NM_024091.4(FASTKD3):c.620G>T (p.Arg207Leu)	FASTKD3, MTRR (R207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389515	NM_024091.4(FASTKD3):c.1256A>G (p.Asn419Ser)	FASTKD3, MTRR (N419S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387476	NM_024091.4(FASTKD3):c.1580C>T (p.Ser527Phe)	FASTKD3, MTRR (S527F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362774	NM_024091.4(FASTKD3):c.647G>A (p.Arg216His)	FASTKD3, MTRR (R216H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353813	NM_024091.4(FASTKD3):c.526A>G (p.Thr176Ala)	FASTKD3, MTRR (T176A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348581	NM_024091.4(FASTKD3):c.712C>A (p.Leu238Ile)	FASTKD3, MTRR (L238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324216	NM_024091.4(FASTKD3):c.1267C>T (p.Pro423Ser)	FASTKD3, MTRR (P423S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312603	NM_024091.4(FASTKD3):c.998A>G (p.Glu333Gly)	FASTKD3, MTRR (E333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301928	NM_024091.4(FASTKD3):c.442G>A (p.Gly148Arg)	FASTKD3, MTRR (G148R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284101	NM_024091.4(FASTKD3):c.1956T>A (p.Phe652Leu)	FASTKD3, MTRR (F652L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278937	NM_024091.4(FASTKD3):c.256G>T (p.Asp86Tyr)	FASTKD3, MTRR (D86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274390	NM_024091.4(FASTKD3):c.1466G>T (p.Ser489Ile)	FASTKD3, MTRR (S489I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262275	NM_024091.4(FASTKD3):c.1469G>A (p.Arg490Gln)	FASTKD3, MTRR (R490Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255278	NM_024091.4(FASTKD3):c.647G>T (p.Arg216Leu)	FASTKD3, MTRR (R216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234968	NM_024091.4(FASTKD3):c.1213C>T (p.Pro405Ser)	FASTKD3, MTRR (P405S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225624	NM_024091.4(FASTKD3):c.789G>C (p.Leu263Phe)	FASTKD3, MTRR (L263F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207642	NM_024091.4(FASTKD3):c.1019C>T (p.Ala340Val)	FASTKD3, MTRR (A340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1808602	GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1707436	GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	See cases	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1703686	GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027)	ADAMTS16, ADCY2 +48 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1340533	GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1	ADAMTS16, ADCY2 +60 more	Copy number loss	not provided	GPathogenic
Select item 1012369	GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	MARCHF11, MARCHF6 +67 more	Copy number loss	See cases	GPathogenic
Select item 979667	GRCh37/hg19 5p15.31(chr5:7619352-8166508)x3	ADCY2, FASTKD3 +2 more	Copy number gain	not provided	GLikely benign
Select item 915985	GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	LPCAT1, MYO10 +63 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 814662	GRCh37/hg19 5p15.31(chr5:7263294-8372692)x3	FASTKD3, ADCY2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814659	GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1	CCT5, ADAMTS16 +27 more	Copy number loss	not provided	GPathogenic
Select item 814654	GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1	SLC9A3, SRD5A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 814653	GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1	ADAMTS16, ADCY2 +55 more	Copy number loss	not provided	GPathogenic
Select item 814652	GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	not provided	GPathogenic
Select item 790563	NM_024091.4(FASTKD3):c.1375G>C (p.Glu459Gln)	FASTKD3, MTRR (E459Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771859	NM_024091.4(FASTKD3):c.1296G>T (p.Leu432=)	FASTKD3, MTRR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686093	GRCh37/hg19 5p15.31(chr5:7607935-9584194)x3	ADCY2, CFAP90 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625702	GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)	ADAMTS16, ADCY2 +40 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 625701	GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	ADAMTS16, ADCY2 +67 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 563034	GRCh37/hg19 5p15.31(chr5:7831677-9214028)x3	FASTKD3, MTRR +2 more	Copy number gain	not provided	GUncertain significance
Select item 563032	GRCh37/hg19 5p15.32-15.2(chr5:5884444-14122539)x3	ATPSCKMT, ADCY2 +19 more	Copy number gain	not provided	GPathogenic
Select item 563031	GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1	RETREG1, ANKRD33B +31 more	Copy number loss	not provided	GPathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 563026	GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 563025	GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1	ADAMTS16, ADCY2 +56 more	Copy number loss	not provided	GPathogenic
Select item 563024	GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not provided	GPathogenic
Select item 446326	GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 443692	GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	See cases	GPathogenic
Select item 443691	GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3	ADAMTS16, ADCY2 +62 more	Copy number gain	See cases	GPathogenic
Select item 443451	GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 443058	GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 442940	GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1	ADAMTS16, ADCY2 +40 more	Copy number loss	See cases	GPathogenic
Select item 442928	GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1	CTNND2, DAP +67 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441820	GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	See cases	GPathogenic
Select item 441752	GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1	SDHA, SEMA5A +55 more	Copy number loss	See cases	GPathogenic
Select item 395597	GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	See cases	GPathogenic
Select item 395342	GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1	ADAMTS16, ADCY2 +40 more	Copy number loss	See cases	GPathogenic
Select item 394369	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1	ADAMTS12, ADAMTS16 +82 more	Copy number loss	See cases	GPathogenic
Select item 393852	GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3	ADAMTS16, ADCY2 +39 more	Copy number gain	See cases	GPathogenic
Select item 393768	GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 253596	GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	See cases	GPathogenic
Select item 253478	GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1	ADAMTS16, ADCY2 +56 more	Copy number loss	See cases	GPathogenic
Select item 242852	GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3	RETREG1, SDHA +62 more	Copy number gain	not provided	GPathogenic
Select item 226174	GRCh37/hg19 5p15.31(chr5:7198626-8305678)	ADCY2, MTRR +2 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 218968	t(5;16)(p15.31;q23.1)	ACSF3, ADAD2 +150 more	Translocation	not provided	GLikely pathogenic

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