ClinVar for Gene (Select 8045) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312992	NM_003475.4(RASSF7):c.1097T>C (p.Leu366Pro)	RASSF7 (L366P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3312991	NM_003475.4(RASSF7):c.980C>T (p.Ser327Phe)	RASSF7 (S327F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3312990	NM_003475.4(RASSF7):c.391G>A (p.Glu131Lys)	RASSF7 (E131K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312989	NM_003475.4(RASSF7):c.242A>T (p.Gln81Leu)	RASSF7 (Q81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244779	NC_000011.9:g.(?_532636)_(644674_?)dup	CDHR5, DEAF1 +11 more	Duplication	not provided	GUncertain significance
Select item 3244777	NC_000011.9:g.(?_216698)_(679836_?)del	ANO9, B4GALNT4 +25 more	Deletion	not provided	GUncertain significance
Select item 3244591	NC_000011.9:g.(?_532636)_(824862_?)dup	EPS8L2, CDHR5 +20 more	Duplication	Costello syndrome	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3151974	NM_003475.4(RASSF7):c.749G>C (p.Arg250Pro)	RASSF7 (R250P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151973	NM_003475.4(RASSF7):c.748C>T (p.Arg250Trp)	RASSF7 (R250W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151972	NM_003475.4(RASSF7):c.726C>G (p.His242Gln)	RASSF7 (H242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151971	NM_003475.4(RASSF7):c.710C>G (p.Ala237Gly)	RASSF7 (A237G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151970	NM_003475.4(RASSF7):c.644G>A (p.Arg215His)	RASSF7 (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151969	NM_003475.4(RASSF7):c.560G>A (p.Arg187Gln)	RASSF7 (R187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151968	NM_003475.4(RASSF7):c.427G>T (p.Ala143Ser)	RASSF7 (A143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151967	NM_003475.4(RASSF7):c.412C>T (p.Arg138Cys)	RASSF7 (R138C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151966	NM_003475.4(RASSF7):c.326G>A (p.Arg109His)	RASSF7 (R109H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151965	NM_003475.4(RASSF7):c.304C>T (p.Pro102Ser)	RASSF7 (P102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151964	NM_003475.4(RASSF7):c.28C>A (p.Leu10Met)	RASSF7 (L10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151963	NM_003475.4(RASSF7):c.143T>C (p.Val48Ala)	RASSF7 (V48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151962	NM_003475.4(RASSF7):c.125G>A (p.Gly42Asp)	RASSF7 (G42D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151961	NM_003475.4(RASSF7):c.10G>C (p.Gly4Arg)	RASSF7 (G4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151960	NM_003475.4(RASSF7):c.1033G>C (p.Gly345Arg)	RASSF7 (G345R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3151959	NM_003475.4(RASSF7):c.1025G>A (p.Arg342Lys)	RASSF7 (R342K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3063193	GRCh37/hg19 11p15.5(chr11:372929-762338)x3	HRAS, IRF7 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2641074	NM_003475.4(RASSF7):c.426G>A (p.Ala142=)	RASSF7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607320	NM_003475.4(RASSF7):c.107C>T (p.Ala36Val)	RASSF7 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574690	GRCh37/hg19 11p15.5(chr11:268586-748873)	CDHR5, MIR210HG +26 more	Copy number loss	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	GPathogenic
Select item 2540834	NM_003475.4(RASSF7):c.1073C>T (p.Ala358Val)	RASSF7 (A358V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2520544	NM_003475.4(RASSF7):c.1063G>T (p.Val355Leu)	RASSF7 (V355L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2513119	NM_003475.4(RASSF7):c.692C>T (p.Pro231Leu)	RASSF7 (P231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509412	NM_003475.4(RASSF7):c.1042C>T (p.His348Tyr)	RASSF7 (H348Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2495523	NM_003475.4(RASSF7):c.160C>T (p.Arg54Trp)	RASSF7 (R54W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487671	NM_003475.4(RASSF7):c.350G>T (p.Arg117Leu)	RASSF7 (R117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483101	NM_003475.4(RASSF7):c.172C>T (p.Arg58Trp)	RASSF7 (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477873	NM_003475.4(RASSF7):c.155G>A (p.Arg52Gln)	RASSF7 (R52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473226	NM_003475.4(RASSF7):c.466C>T (p.Arg156Trp)	RASSF7 (R156W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466626	NM_003475.4(RASSF7):c.922C>T (p.Arg308Trp)	RASSF7 (R308W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426546	NC_000011.9:g.(?_532636)_(819925_?)dup	CDHR5, CEND1 +20 more	Duplication	Neutral lipid storage myopathy	GUncertain significance
Select item 2412094	NM_003475.4(RASSF7):c.935G>A (p.Gly312Asp)	RASSF7 (G312D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405565	NM_003475.4(RASSF7):c.566G>A (p.Gly189Glu)	RASSF7 (G189E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405159	NM_003475.4(RASSF7):c.1054C>T (p.Leu352Phe)	RASSF7 (L352F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2387407	NM_003475.4(RASSF7):c.593C>T (p.Ala198Val)	RASSF7 (A198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376398	NM_003475.4(RASSF7):c.1067C>T (p.Ala356Val)	RASSF7 (A356V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2364813	NM_003475.4(RASSF7):c.425C>T (p.Ala142Val)	RASSF7 (A142V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357996	NM_003475.4(RASSF7):c.554G>A (p.Arg185Gln)	RASSF7 (R185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348975	NM_003475.4(RASSF7):c.950A>G (p.Gln317Arg)	RASSF7 (Q317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347230	NM_003475.4(RASSF7):c.302C>T (p.Pro101Leu)	RASSF7 (P101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332825	NM_003475.4(RASSF7):c.1112A>G (p.Gln371Arg)	RASSF7 (Q371R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2325252	NM_003475.4(RASSF7):c.37T>G (p.Trp13Gly)	RASSF7 (W13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323898	NM_003475.4(RASSF7):c.256C>T (p.Arg86Cys)	RASSF7 (R86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304604	NM_003475.4(RASSF7):c.670G>A (p.Ala224Thr)	RASSF7 (A224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301040	NM_003475.4(RASSF7):c.934G>A (p.Gly312Ser)	RASSF7 (G312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291702	NM_003475.4(RASSF7):c.1015G>A (p.Ala339Thr)	RASSF7 (A339T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2237396	NM_003475.4(RASSF7):c.911C>T (p.Pro304Leu)	RASSF7 (P304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214486	NM_003475.4(RASSF7):c.218G>A (p.Cys73Tyr)	RASSF7 (C73Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808628	GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	GATD1, IRF7 +52 more	Copy number gain	not provided	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1443721	NC_000011.9:g.(?_532636)_(695047_?)dup	CDHR5, DEAF1 +11 more	Duplication	not provided	GUncertain significance
Select item 1421885	NC_000011.9:g.(?_216698)_(720766_?)dup	ANO9, B4GALNT4 +27 more	Duplication	Immunodeficiency 39	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	ANO9, AP2A2 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980416	GRCh37/hg19 11p15.5(chr11:230615-1150353)x3	ANO9, AP2A2 +43 more	Copy number gain	not provided	GUncertain significance
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	C11orf21, AP2A2 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 830507	NC_000011.10:g.(?_532616)_(795026_?)dup	CDHR5, CEND1 +17 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 770594	NM_003475.4(RASSF7):c.956C>T (p.Pro319Leu)	RASSF7 (P319L)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 748991	NM_003475.4(RASSF7):c.124+10C>T	RASSF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730129	NM_003475.4(RASSF7):c.454T>C (p.Cys152Arg)	RASSF7 (C152R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 394738	GRCh37/hg19 11p15.5(chr11:494540-616565)x3	CDHR5, HRAS +9 more	Copy number gain	See cases	GUncertain significance
Select item 394279	GRCh37/hg19 11p15.5(chr11:532230-699404)x3	CDHR5, DEAF1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 253876	GRCh37/hg19 11p15.5(chr11:532230-699463)x3	CDHR5, DEAF1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

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Links from Gene

Items: 95