283120[geneid] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
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 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	KRTAP5-6, KRTAP5-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	ASCL2, C11orf21 +115 more	Copy number gain	See cases	GPathogenic
Select item 59749	GRCh38/hg38 11p15.5(chr11:1923685-2003319)x3	H19, H19-ICR +9 more	Copy number gain	See cases	GPathogenic
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147904	GRCh38/hg38 11p15.5(chr11:1975511-2138446)x3	H19, H19-ICR +9 more	Copy number gain	See cases	GBenign
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 more	Copy number gain	See cases	GPathogenic
Select item 3045472	NM_032774.1:c.*364G>A	H19, HOTS +1 more	Single nucleotide variant (synonymous variant +2 more)	H19-related condition	GLikely benign
Select item 3051583	NM_032774.1:c.*354G>A	H19, HOTS +1 more (L81F)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 148135	GRCh38/hg38 11p15.5(chr11:1995445-1995611)x3	H19, HOTS +1 more	Copy number gain	See cases	GBenign
Select item 1678361	NM_032774.1:c.*315A>T	H19, HOTS +1 more (L94I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3060734	NM_032774.1:c.*304A>T	H19, HOTS +1 more	Single nucleotide variant (synonymous variant +2 more)	H19-related condition	GBenign
Select item 3052650	NM_032774.1:c.*277T>C	H19, HOTS +1 more	Single nucleotide variant (synonymous variant +2 more)	H19-related condition	GLikely benign
Select item 2641353	NM_032774.1:c.39_40AC[1]	H19, HOTS +1 more	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3058490	NM_032774.1:c.131G>T	H19, HOTS +1 more (G44V)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3033654	NM_032774.1:c.119C>T	HOTS, MRPL23 +1 more (S40L)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3045777	NM_032774.1:c.113C>T	H19, HOTS +1 more (T38M)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3050333	NM_032774.1:c.55A>G	H19, HOTS +1 more (N19D)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3042938	NM_032774.1:c.44C>T	H19, MRPL23 (P15L)	Single nucleotide variant (missense variant +2 more)	H19-related condition	GLikely benign
Select item 3055295	NM_001400176.1(MRPL23):c.498-15110G>A	H19, MRPL23	Single nucleotide variant (intron variant)	H19-related condition	GLikely benign
Select item 3054515	NM_001400176.1(MRPL23):c.498-15029del	H19, MRPL23	Deletion (intron variant)	H19-related condition	GLikely benign
Select item 3024686	NM_032774.1:c.-96G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3036456	NM_032774.1:c.-117G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3057744	NM_032774.1:c.-193G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3038492	NM_032774.1:c.-229T>C	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GBenign
Select item 3048895	NR_030533.1(MIR675):n.60G>A	H19, MIR675 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	MIR675-related condition	GLikely benign
Select item 3038927	NM_032774.1:c.-478C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3049323	NM_032774.1:c.-520G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3045794	NM_032774.1:c.-622C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3045696	NM_032774.1:c.-659A>G	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 3037514	NM_032774.1:c.-708C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GBenign
Select item 3039706	NM_001400176.1(MRPL23):c.498-14374C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GBenign
Select item 3050632	NM_001400176.1(MRPL23):c.498-14062C>G	MRPL23, H19	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 152982	GRCh38/hg38 11p15.5(chr11:1998451-1999317)x3	H19, H19-ICR +1 more	Copy number gain	See cases	GBenign
Select item 162493	NR_002196.1(H19):n.-7080_-1781del	H19, H19-ICR +1 more	Deletion	Wilms tumor 2 +1 more	GPathogenic
Select item 96746	NR_131224.1(H19):n.249+1110G>T	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	Beckwith-Wiedemann syndrome	Gnot provided
Select item 139461	NR_131224.1(H19):n.249+989C>T	H19, H19-ICR +1 more	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided
Select item 96748	NR_131224.1(H19):n.249+613T>A	H19, H19-ICR +1 more	Single nucleotide variant (genic upstream transcript variant)	Beckwith-Wiedemann syndrome	Gnot provided
Select item 96745	NR_131224.1(H19):n.249+510A>T	H19, H19-ICR +1 more	Single nucleotide variant (genic upstream transcript variant)	Beckwith-Wiedemann syndrome	Gnot provided
Select item 162494	GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3	H19, H19-ICR +1 more	Copy number gain	Wilms tumor 2	GPathogenic
Select item 2631195	NM_001400176.1(MRPL23):c.498-10750C>T	MRPL23, H19 +1 more	Single nucleotide variant (intron variant)	H19-related condition	GUncertain significance
Select item 139462	NR_131224.1(H19):n.249+306C>T	H19, H19-ICR +1 more	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided
Select item 96747	NR_131224.1(H19):n.249+189G>T	H19, H19-ICR +1 more	Single nucleotide variant (genic upstream transcript variant)	Beckwith-Wiedemann syndrome	Gnot provided
Select item 3032686	NM_001400176.1(MRPL23):c.498-10486A>G	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related condition	GUncertain significance
Select item 96743	NR_131224.1(H19):n.249+135C>T	H19, H19-ICR +1 more	Single nucleotide variant (genic upstream transcript variant)	Beckwith-Wiedemann syndrome	Gnot provided
Select item 3032748	NM_001400176.1(MRPL23):c.498-10144T>G	H19, H19-ICR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related condition	GLikely benign
Select item 156466	NR_131224.1(H19):n.-297A>C	H19, H19-ICR +1 more	Single nucleotide variant	Beckwith-Wiedemann syndrome	Gnot provided
Select item 3038156	NM_001400176.1(MRPL23):c.498-9714C>T	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related condition	GBenign
Select item 2633517	NM_001400176.1(MRPL23):c.498-9476C>T	MRPL23, H19 +1 more	Single nucleotide variant (intron variant)	H19-related condition	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 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2427669	NC_000011.9:g.(?_1278740)_(2906719_?)dup	ASCL2, BRSK2 +32 more	Duplication	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2424318	NC_000011.9:g.(?_1774733)_(2019125_?)dup	CTSD, H19 +5 more	Duplication	Neuronal ceroid lipofuscinosis	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 1807713	GRCh37/hg19 11p15.5(chr11:1980946-2054887)x1	H19	Copy number loss	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 1703675	GRCh37/hg19 11p15.5(chr11:1621232-2228572)	CTSD, H19 +15 more	Copy number gain	Beckwith-Wiedemann syndrome	GPathogenic
Select item 1340828	GRCh37/hg19 11p15.5(chr11:1719815-2321109)x3	ASCL2, C11orf21 +13 more	Copy number gain	not provided	GLikely pathogenic
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 1004798	NC_000011.9:g.(?_612625)_(2193840_?)dup	BRSK2, AP2A2 +45 more	Duplication	Immunodeficiency 39 +1 more	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 980415	GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3	ASCL2, BRSK2 +22 more	Copy number gain	not provided	GPathogenic
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	INS-IGF2, IRF7 +63 more	Duplication	Neuronal ceroid lipofuscinosis	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 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 441792	GRCh37/hg19 11p15.5(chr11:2011731-2059924)x3	H19	Copy number gain	See cases	GUncertain significance
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 441567	GRCh37/hg19 11p15.5(chr11:1690968-2277648)x3	CTSD, H19 +12 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

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Items: 87