Related gene-specific medical variations for Gene (Select 6150) - ClinVar

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Links from Gene

Items: 59

	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	MRPL23, H19 +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 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 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	MRPL23, H19 +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 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 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 162494	GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3	MRPL23, H19 +1 more	Copy number gain	Wilms tumor 2	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 152982	GRCh38/hg38 11p15.5(chr11:1998451-1999317)x3	H19, H19-ICR +1 more	Copy number gain	See cases	GBenign
Select item 148135	GRCh38/hg38 11p15.5(chr11:1995445-1995611)x3	H19, HOTS +1 more	Copy number gain	See cases	GBenign
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, H19-ICR +1 more	Single nucleotide variant (genic upstream transcript variant)	Beckwith-Wiedemann syndrome	Gnot provided
Select item 96746	NC_000011.10:g.2000108C>A	H19, H19-ICR +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

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Links from Gene

Items: 59