ClinVar for Gene (Select 6150) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	PGGHG, PHRF1 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3234180	NR_131224.2(H19):n.199G>A	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3207219	NM_021134.4(MRPL23):c.4G>C (p.Ala2Pro)	MRPL23 (A2P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3207207	NM_021134.4(MRPL23):c.322C>A (p.Pro108Thr)	MRPL23 (P108T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3207201	NM_021134.4(MRPL23):c.317C>T (p.Thr106Met)	MRPL23 (T106M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3060734	NR_131224.2(H19):n.728A>T	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GBenign
Select item 3058490	NR_131224.2(H19):n.261G>T	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3057744	NM_001400176.1(MRPL23):c.498-14912C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3055295	NM_001400176.1(MRPL23):c.498-15110G>A	H19, MRPL23	Single nucleotide variant (intron variant)	H19-related disorder	GLikely benign
Select item 3054515	NM_001400176.1(MRPL23):c.498-15029del	H19, MRPL23	Deletion (intron variant)	H19-related disorder	GLikely benign
Select item 3052650	NR_131224.2(H19):n.701T>C	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3051583	NR_131224.2(H19):n.778G>A	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3050632	NM_001400176.1(MRPL23):c.498-14062C>G	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3050333	NR_131224.2(H19):n.185A>G	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3049323	NM_001400176.1(MRPL23):c.498-14585C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
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 disorder	GLikely benign
Select item 3045794	NM_001400176.1(MRPL23):c.498-14483G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3045777	NR_131224.2(H19):n.243C>T	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3045696	NM_001400176.1(MRPL23):c.498-14446T>C	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3045472	NR_131224.2(H19):n.788G>A	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3042938	NR_131224.2(H19):n.174C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3039706	NM_001400176.1(MRPL23):c.498-14374C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GBenign
Select item 3038927	NM_001400176.1(MRPL23):c.498-14627G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3038492	NM_001400176.1(MRPL23):c.498-14876A>G	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GBenign
Select item 3038156	NM_001400176.1(MRPL23):c.498-9714C>T	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GBenign
Select item 3037514	NM_001400176.1(MRPL23):c.498-14397G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GBenign
Select item 3036456	NM_001400176.1(MRPL23):c.498-14988C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3033654	NR_131224.2(H19):n.249C>T	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
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 disorder	GLikely benign
Select item 3032686	NM_001400176.1(MRPL23):c.498-10486A>G	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GUncertain significance
Select item 3024686	NM_001400176.1(MRPL23):c.498-15009C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 2641353	NR_131224.2(H19):n.463_464AC[1]	H19, HOTS +1 more	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2633517	NM_001400176.1(MRPL23):c.498-9476C>T	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GUncertain significance
Select item 2631195	NM_001400176.1(MRPL23):c.498-10750C>T	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GUncertain significance
Select item 2604325	NM_021134.4(MRPL23):c.428G>A (p.Arg143Gln)	MRPL23 (R143Q +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2558175	NM_021134.4(MRPL23):c.31C>T (p.Arg11Trp)	MRPL23 (R11W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2552158	NM_021134.4(MRPL23):c.269C>T (p.Pro90Leu)	MRPL23 (P90L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 2387107	NM_021134.4(MRPL23):c.206G>A (p.Arg69Gln)	MRPL23 (R69Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372789	NM_021134.4(MRPL23):c.109G>A (p.Glu37Lys)	MRPL23 (E37K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2366013	NM_021134.4(MRPL23):c.425C>T (p.Pro142Leu)	MRPL23 (P97L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2365011	NM_021134.4(MRPL23):c.430C>T (p.Arg144Trp)	MRPL23 (R144W +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2341340	NM_021134.4(MRPL23):c.431G>A (p.Arg144Gln)	MRPL23 (R99Q +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2321398	NM_021134.4(MRPL23):c.211C>T (p.Arg71Trp)	MRPL23 (R26W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275568	NM_021134.4(MRPL23):c.215T>A (p.Val72Glu)	MRPL23 (V27E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262216	NM_021134.4(MRPL23):c.70T>G (p.Phe24Val)	MRPL23 (F24V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2213238	NM_021134.4(MRPL23):c.196G>A (p.Ala66Thr)	MRPL23 (A66T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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	ART1, CD81 +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 1678361	NR_131224.2(H19):n.739A>T	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 791542	NM_021134.4(MRPL23):c.141-8G>A	MRPL23	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	RASSF10, RASSF7 +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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +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	OR2AG2, OR2D2 +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	B4GALNT4, BET1L +132 more	Copy number gain	See cases	GPathogenic
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 162493	NR_002196.1(H19):n.-7080_-1781del	H19, H19-ICR +1 more	Deletion	Wilms tumor 2 +1 more	GPathogenic
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 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005114, LOC130005115 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 152982	GRCh38/hg38 11p15.5(chr11:1998451-1999317)x3	H19, H19-ICR +1 more	Copy number gain	See cases	GBenign
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 148135	GRCh38/hg38 11p15.5(chr11:1995445-1995611)x3	H19, HOTS +1 more	Copy number gain	See cases	GBenign
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 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	ASCL2, C11orf21 +115 more	Copy number gain	See cases	GPathogenic
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 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
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 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 96747	NR_131224.1(H19):n.249+189G>T	H19-ICR, MRPL23 +1 more	Single nucleotide variant (genic upstream transcript variant)	Beckwith-Wiedemann syndrome	Gnot provided
Select item 96746	NM_001400176.1(MRPL23):c.498-11433C>A	H19-ICR, MRPL23 +1 more	Single nucleotide variant (intron 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 96744	NR_131224.1(H19):n.-317_-297del	H19-ICR, MRPL23	Deletion	Beckwith-Wiedemann syndrome	Gnot provided
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 96742	NC_000011.10:g.2001815G>A	H19-ICR, MRPL23	Single nucleotide variant	Beckwith-Wiedemann syndrome	Gnot provided
Select item 59749	GRCh38/hg38 11p15.5(chr11:1923685-2003319)x3	H19, H19-ICR +9 more	Copy number gain	See cases	GPathogenic

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