H2BC15[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance
Select item 3103794	NM_003520.4(H2BC15):c.124G>A (p.Val42Met)	H2BC15, LOC129996142 (V42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103795	NM_003520.4(H2BC15):c.127T>C (p.Tyr43His)	H2BC15, LOC129996142 (Y43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491710	NM_003520.4(H2BC15):c.197T>G (p.Phe66Cys)	H2BC15 (F66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283327	NM_003520.4(H2BC15):c.217C>T (p.Arg73Cys)	H2BC15 (R73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062925	GRCh37/hg19 6p22.1(chr6:27613035-28021256)x3	H1-5, H2AC13 +17 more	Copy number gain	not specified	GUncertain significance
Select item 814806	GRCh37/hg19 6p22.1(chr6:27616157-28011557)x3	H4C12, H2AC17 +17 more	Copy number gain	not provided	GLikely benign
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 221453	GRCh37/hg19 6p22.1(chr6:27775494-27861432)x3	H2BC13, H2BC14 +14 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance