H3-7[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	BCL9, LINC00623 +213 more	Copy number gain	See cases	GPathogenic
Select item 145983	GRCh38/hg38 1p13.2-11.2(chr1:121086594-144935242)x3	FAM72B, FAM72C +42 more	Copy number gain	See cases	GPathogenic
Select item 58087	GRCh38/hg38 1p12-q21.2(chr1:121086594-144935242)x3	FAM72B, FAM72C +42 more	Copy number gain	See cases	GPathogenic
Select item 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	LOC129931352, LOC129931353 +183 more	Copy number loss	See cases	GPathogenic
Select item 148361	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +179 more	Copy number loss	See cases	GPathogenic
Select item 147710	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3	ACP6, ANKRD34A +178 more	Copy number gain	See cases	GPathogenic
Select item 146706	GRCh38/hg38 1q21.1-21.2(chr1:143515074-144625016)x1	FAM72C, H3-7 +25 more	Copy number loss	See cases	GBenign
Select item 58491	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	LOC126805854, LOC128071544 +179 more	Copy number loss	See cases	GPathogenic
Select item 2639144	NM_001372105.2(H3-7):c.165T>C (p.Tyr55=)	H3-7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639145	NM_001372105.2(H3-7):c.12T>C (p.Thr4=)	H3-7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign