Related gene-specific medical variations for Gene (Select 105259599) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2633517	NM_001400176.1(MRPL23):c.498-9476C>T	H19, H19-ICR +1 more	Single nucleotide variant (intron variant)	H19-related condition	GUncertain significance
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 162494	GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3	H19, H19-ICR +1 more	Copy number gain	Wilms tumor 2	GPathogenic
Select item 162492	NG_016165.1:g.(170_?)_(?_2014)del	H19-ICR	Deletion	Beckwith-Wiedemann syndrome	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 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	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 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