H19-ICR[gene] - ClinVar

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Items: 33

	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 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 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 96744	NR_131224.1(H19):n.-317_-297del	H19-ICR, MRPL23	Deletion	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 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 162492	NG_016165.1:g.(170_?)_(?_2014)del	H19-ICR	Deletion	Beckwith-Wiedemann syndrome	GPathogenic

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Items: 33