ClinVar for Gene (Select 6050) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 2641053	NM_203387.3(RNH1):c.981C>T (p.Ala327=)	RNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2575203	NM_203387.3(RNH1):c.40G>T (p.Glu14Ter)	RNH1 (E14*)	Single nucleotide variant (nonsense)	Encephalitis, acute, infection-induced, susceptibility to, 12	Grisk factor
Select item 2575201	NM_203387.3(RNH1):c.887T>C (p.Leu296Pro)	RNH1 (L296P)	Single nucleotide variant (missense variant)	Encephalitis, acute, infection-induced, susceptibility to, 12	Grisk factor
Select item 2575200	NM_203387.3(RNH1):c.279G>T (p.Gln93His)	RNH1 (Q93H)	Single nucleotide variant (missense variant)	Encephalitis, acute, infection-induced, susceptibility to, 12	Grisk factor
Select item 2575198	NM_203387.3(RNH1):c.615-2A>C	RNH1	Single nucleotide variant (splice acceptor variant)	Encephalitis, acute, infection-induced, susceptibility to, 12	Grisk factor
Select item 2574690	GRCh37/hg19 11p15.5(chr11:268586-748873)	PHRF1, TALDO1 +26 more	Copy number loss	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	GPathogenic
Select item 2535363	NM_203387.3(RNH1):c.97G>A (p.Val33Ile)	RNH1 (V33I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530784	NM_203387.3(RNH1):c.541G>T (p.Asp181Tyr)	RNH1 (D181Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529759	NM_203387.3(RNH1):c.548A>G (p.Asn183Ser)	RNH1 (N183S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518766	NM_203387.3(RNH1):c.1223A>G (p.Asn408Ser)	RNH1 (N408S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2484850	NM_203387.3(RNH1):c.1336C>T (p.Arg446Trp)	RNH1 (R446W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484435	NM_203387.3(RNH1):c.1214T>C (p.Leu405Pro)	RNH1 (L405P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457668	NM_203387.3(RNH1):c.626G>A (p.Cys209Tyr)	RNH1 (C209Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457469	NM_203387.3(RNH1):c.307G>A (p.Gly103Arg)	RNH1 (G103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409872	NM_203387.3(RNH1):c.1075C>T (p.Arg359Trp)	RNH1 (R359W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341575	NM_203387.3(RNH1):c.1103C>T (p.Pro368Leu)	RNH1 (P368L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341461	NM_203387.3(RNH1):c.740T>C (p.Leu247Pro)	RNH1 (L247P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341448	NM_203387.3(RNH1):c.1096G>A (p.Gly366Ser)	RNH1 (G366S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324182	NM_203387.3(RNH1):c.280A>C (p.Asn94His)	RNH1 (N94H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310143	NM_203387.3(RNH1):c.436A>G (p.Lys146Glu)	RNH1 (K146E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294170	NM_203387.3(RNH1):c.1178C>T (p.Thr393Ile)	RNH1 (T393I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288593	NM_203387.3(RNH1):c.94G>A (p.Val32Met)	RNH1 (V32M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284553	NM_203387.3(RNH1):c.73C>T (p.Pro25Ser)	RNH1 (P25S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277745	NM_203387.3(RNH1):c.580C>G (p.Leu194Val)	RNH1 (L194V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229060	NM_203387.3(RNH1):c.734C>T (p.Ala245Val)	RNH1 (A245V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212542	NM_203387.3(RNH1):c.833G>A (p.Arg278His)	RNH1 (R278H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210693	NM_203387.3(RNH1):c.49G>A (p.Asp17Asn)	RNH1 (D17N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808628	GRCh37/hg19 11p15.5(chr11:461373-2157956)x4	AP2A2, BRSK2 +52 more	Copy number gain	not provided	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
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	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	PTDSS2, RASSF7 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 988661	NM_203387.3(RNH1):c.1117C>T (p.Arg373Trp)	RNH1 (R373W)	Single nucleotide variant (missense variant)	RNH1-related condition	GUncertain significance
Select item 988660	NM_203387.3(RNH1):c.682_685delinsCTGGGCCTTGGGCA (p.Ser228fs)	RNH1 (S228fs)	Indel (frameshift variant)	RNH1-related condition	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	IFITM3, OR52D1 +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 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 776556	NM_203387.3(RNH1):c.444-10T>C	RNH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +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	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +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 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	ART1, ART5 +132 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005123, LOC130005124 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144998	GRCh38/hg38 11p15.5(chr11:313991-504786)x3	ANO9, B4GALNT4 +35 more	Copy number gain	See cases	GBenign
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +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	LOC106783508, LOC106799843 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

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Links from Gene

Items: 69