ClinVar for Gene (Select 6150) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357134	NC_000011.10:g.2001446G>T	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GLikely benign
Select item 3356765	NC_000011.10:g.2000662A>G	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GUncertain significance
Select item 3356562	NC_000011.10:g.2000378C>A	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GLikely benign
Select item 3356496	NC_000011.10:g.1999368G>A	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GLikely benign
Select item 3356460	NC_000011.10:g.2001915C>T	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GLikely benign
Select item 3356243	NC_000011.10:g.1999050G>A	MRPL23, H19 +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GLikely benign
Select item 3356165	NC_000011.10:g.2000390A>C	MRPL23, H19 +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GUncertain significance
Select item 3356155	NC_000011.10:g.1999869C>T	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GLikely benign
Select item 3356074	NC_000011.10:g.2002368G>A	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GLikely benign
Select item 3356009	NC_000011.10:g.2000386A>G	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GLikely benign
Select item 3353511	NR_002196.3(H19):n.854G>C	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3352647	NR_002196.3(H19):n.1948T>A	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3349415	NC_000011.10:g.2002872T>G	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GLikely benign
Select item 3347126	NC_000011.10:g.1999256G>A	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GUncertain significance
Select item 3346082	NC_000011.10:g.2001738A>G	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GUncertain significance
Select item 3295990	NM_021134.4(MRPL23):c.69C>A (p.Asn23Lys)	MRPL23 (N23K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3295989	NM_021134.4(MRPL23):c.12T>A (p.Asn4Lys)	MRPL23 (N4K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3234180	NR_002196.3(H19):n.1475G>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_002196.3(H19):n.2004A>T	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GBenign
Select item 3058490	NR_002196.3(H19):n.1537G>T	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3057744	NR_002196.3(H19):n.1214G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3055295	NR_002196.2(H19):n.1359-10C>T	H19, MRPL23	Single nucleotide variant (intron variant)	H19-related disorder	GLikely benign
Select item 3054515	NR_002196.2(H19):n.1358+10delT	H19, MRPL23	Deletion (intron variant)	H19-related disorder	GLikely benign
Select item 3052650	NR_002196.3(H19):n.1977T>C	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3051583	NR_002196.3(H19):n.2054G>A	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3050632	NR_002196.3(H19):n.364G>C	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3050333	NR_002196.3(H19):n.1461A>G	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3049323	NR_002196.3(H19):n.887G>A	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	NR_002196.3(H19):n.785C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3045777	NR_002196.3(H19):n.1519C>T	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3045696	NR_002196.3(H19):n.748A>G	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3045472	NR_002196.3(H19):n.2064G>A	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3042938	NR_002196.3(H19):n.1450C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3039706	NR_002196.3(H19):n.676G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GBenign
Select item 3038927	NR_002196.3(H19):n.929C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3038492	NR_002196.3(H19):n.1178T>C	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GBenign
Select item 3038156	NC_000011.10:g.2001827C>T	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GBenign
Select item 3037514	NR_002196.3(H19):n.699C>T	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GBenign
Select item 3036456	NR_002196.3(H19):n.1290G>A	H19, MRPL23	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3033654	NR_002196.3(H19):n.1525C>T	H19, HOTS +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	H19-related disorder	GLikely benign
Select item 3032748	NC_000011.10:g.2001397T>G	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GLikely benign
Select item 3032686	NC_000011.10:g.2001055A>G	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GUncertain significance
Select item 3024686	NR_002196.3(H19):n.1311G>A	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	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
Select item 2641353	NR_002196.3(H19):n.1739AC[1]	H19, HOTS +1 more	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2633517	NR_002196.2(H19):n.-4190G>A	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related disorder	GUncertain significance
Select item 2631195	NR_002196.2(H19):n.-2916G>A	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	ANO9, AP2A2 +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	GATD1, IRF7 +52 more	Copy number gain	not provided	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 1703675	GRCh37/hg19 11p15.5(chr11:1621232-2228572)	CTSD, H19 +15 more	Copy number gain	Beckwith-Wiedemann syndrome	GPathogenic
Select item 1678361	NR_002196.3(H19):n.2015A>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	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 1004798	NC_000011.9:g.(?_612625)_(2193840_?)dup	AP2A2, BRSK2 +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	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980415	GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3	TNNT3, ASCL2 +22 more	Copy number gain	not provided	GPathogenic
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	C11orf21, AP2A2 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +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)	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 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +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	OR51G2, OR51L1 +132 more	Copy number gain	See cases	GPathogenic
Select item 162494	GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3	MRPL23, H19 +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	ANO9, AP2A2 +204 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 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

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