6240[geneid] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 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 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 153706	GRCh38/hg38 11p15.4(chr11:3685244-4414881)x3	LINC02749, LOC106865369 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2672455	NM_001033.5(RRM1):c.58T>C (p.Ser20Pro)	RRM1 (S20P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3156447	NM_001033.5(RRM1):c.121A>G (p.Met41Val)	RRM1 (M41V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315431	NM_001033.5(RRM1):c.131T>C (p.Ile44Thr)	RRM1 (I44T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311341	NM_001033.5(RRM1):c.304T>C (p.Tyr102His)	RRM1 (Y5H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156453	NM_001033.5(RRM1):c.305A>G (p.Tyr102Cys)	RRM1 (Y102C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731616	NM_001033.5(RRM1):c.361T>C (p.Leu121=)	RRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3156454	NM_001033.5(RRM1):c.367A>G (p.Ile123Val)	RRM1 (I123V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338175	NM_001033.5(RRM1):c.388C>T (p.Arg130Cys)	RRM1 (R130C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156455	NM_001033.5(RRM1):c.431A>G (p.Asn144Ser)	RRM1 (N47S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156456	NM_001033.5(RRM1):c.479A>G (p.Asn160Ser)	RRM1 (N63S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156457	NM_001033.5(RRM1):c.543A>C (p.Glu181Asp)	RRM1 (E181D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156458	NM_001033.5(RRM1):c.629C>G (p.Thr210Ser)	RRM1 (T210S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209447	NM_001033.5(RRM1):c.829A>G (p.Arg277Gly)	RRM1 (R180G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2664486	NM_001033.5(RRM1):c.1141C>T (p.Arg381Cys)	RRM1 (R381C +3 more)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6	GPathogenic
Select item 2444243	NM_001033.5(RRM1):c.1142G>A (p.Arg381His)	RRM1 (R159H +3 more)	Single nucleotide variant (missense variant)	RRM1-related disorder	GUncertain significance
Select item 3156449	NM_001033.5(RRM1):c.1238G>A (p.Arg413Gln)	RRM1 (R413Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599706	NM_001033.5(RRM1):c.1321G>A (p.Val441Ile)	RRM1 (V344I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315432	NM_001033.5(RRM1):c.1424G>A (p.Arg475Gln)	RRM1 (R378Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156450	NM_001033.5(RRM1):c.1489C>T (p.Arg497Cys)	RRM1 (R400C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776564	NM_001033.5(RRM1):c.1490G>A (p.Arg497His)	RRM1 (R159H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3315430	NM_001033.5(RRM1):c.1541T>G (p.Leu514Arg)	RRM1 (L417R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156451	NM_001033.5(RRM1):c.1552C>T (p.Pro518Ser)	RRM1 (P421S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156452	NM_001033.5(RRM1):c.1553C>G (p.Pro518Arg)	RRM1 (P518R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231756	NM_001033.5(RRM1):c.1562G>A (p.Ser521Asn)	RRM1 (S299N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488137	NM_001033.5(RRM1):c.1640C>G (p.Ala547Gly)	RRM1 (A450G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719475	NM_001033.5(RRM1):c.1659C>T (p.Tyr553=)	RRM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2559968	NM_001033.5(RRM1):c.1681G>C (p.Val561Leu)	RRM1 (V464L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310104	NM_001033.5(RRM1):c.1703A>G (p.Tyr568Cys)	RRM1 (Y568C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237778	NM_001033.5(RRM1):c.1747G>T (p.Val583Phe)	RRM1 (V583F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291992	NM_001033.5(RRM1):c.1964T>C (p.Met655Thr)	RRM1 (M433T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398623	NM_001033.5(RRM1):c.2014A>G (p.Ile672Val)	RRM1 (I334V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485416	NM_001033.5(RRM1):c.2069C>G (p.Thr690Ser)	RRM1 (T593S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558923	NM_001033.5(RRM1):c.2261A>C (p.Lys754Thr)	RRM1 (K416T +3 more)	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 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 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 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 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 253777	GRCh37/hg19 11p15.4(chr11:3898872-4853895)x1	C11orf40, OR51D1 +15 more	Copy number loss	See cases	GUncertain significance

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Items: 57