"GeneDx"[submitter] AND "HEY1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 1253254	NM_012258.4(HEY1):c.*159A>T	HEY1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1229713	NM_012258.4(HEY1):c.332-116C>T	HEY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220652	NM_012258.4(HEY1):c.332-300dup	HEY1	Duplication (intron variant)	not provided	GBenign
Select item 1266917	NM_012258.4(HEY1):c.332-421A>G	HEY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232147	NM_012258.4(HEY1):c.331+386_331+392del	HEY1 (M1fs)	Deletion (frameshift variant +2 more)	not provided	GBenign
Select item 1221132	NM_012258.4(HEY1):c.331+353del	HEY1	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1225922	NM_012258.4(HEY1):c.331+21G>T	HEY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic