ClinVar for Gene (Select 116969) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316817	NM_053017.5(ART5):c.506C>G (p.Pro169Arg)	ART5 (P169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129965	NM_053017.5(ART5):c.520G>A (p.Asp174Asn)	ART5 (D174N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129964	NM_053017.5(ART5):c.31G>T (p.Gly11Cys)	ART5 (G11C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129963	NM_053017.5(ART5):c.239G>A (p.Arg80Gln)	ART5 (R80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535026	NM_053017.5(ART5):c.275A>G (p.Asn92Ser)	ART5 (N92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528714	NM_053017.5(ART5):c.724A>G (p.Ser242Gly)	ART5 (S242G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2518966	NM_053017.5(ART5):c.595C>A (p.Leu199Ile)	ART5 (L199I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518765	NM_053017.5(ART5):c.361C>T (p.Arg121Trp)	ART5 (R121W)	Single nucleotide variant (missense variant)	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 2492120	NM_053017.5(ART5):c.733A>C (p.Thr245Pro)	ART5 (T245P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2409524	NM_053017.5(ART5):c.677C>A (p.Pro226His)	ART5 (P226H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389225	NM_053017.5(ART5):c.40G>A (p.Gly14Ser)	ART5 (G14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351294	NM_053017.5(ART5):c.671T>G (p.Ile224Ser)	ART5 (I224S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2348250	NM_053017.5(ART5):c.544G>A (p.Ala182Thr)	ART5 (A182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341188	NM_053017.5(ART5):c.242G>A (p.Gly81Glu)	ART5 (G81E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318596	NM_053017.5(ART5):c.707C>G (p.Ser236Cys)	ART5 (S236C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291459	NM_053017.5(ART5):c.64G>C (p.Ala22Pro)	ART5 (A22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286134	NM_053017.5(ART5):c.736C>T (p.Leu246Phe)	ART5 (L246F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280694	NM_053017.5(ART5):c.205G>A (p.Glu69Lys)	ART5 (E69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276550	NM_053017.5(ART5):c.191T>C (p.Leu64Pro)	ART5 (L64P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272356	NM_053017.5(ART5):c.445G>A (p.Gly149Ser)	ART5 (G149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205291	NM_053017.5(ART5):c.677C>G (p.Pro226Arg)	ART5 (P226R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 806761	GRCh37/hg19 11p15.4(chr11:3659968-3746449)x3	ART1, ART5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 789615	NM_053017.5(ART5):c.466G>A (p.Glu156Lys)	ART5 (E156K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 722296	NM_053017.5(ART5):c.811T>A (p.Ser271Thr)	ART5 (S203T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 441732	GRCh37/hg19 11p15.4(chr11:3629582-4677492)x3	ART1, ART5 +17 more	Copy number gain	See cases	GLikely benign
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 394200	GRCh37/hg19 11p15.4(chr11:3645310-3676830)x3	ART1, ART5	Copy number gain	See cases	GLikely benign
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 253765	GRCh37/hg19 11p15.4(chr11:3629393-4111738)x3	NUP98, STIM1 +5 more	Copy number gain	See cases	GUncertain significance
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 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: 50