H2BC9[gene] - ClinVar

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Items: 28

	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 150704	GRCh38/hg38 6p22.2(chr6:25991402-26280693)x3	H1-1, H1-2 +85 more	Copy number gain	See cases	GLikely benign
Select item 2513884	NM_003524.3(H2BC9):c.29C>T (p.Ala10Val)	H2BC9 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103856	NM_003524.3(H2BC9):c.53C>T (p.Ala18Val)	H2BC9 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103857	NM_003524.3(H2BC9):c.55G>T (p.Val19Leu)	H2BC9 (V19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519617	NM_003524.3(H2BC9):c.89G>T (p.Arg30Leu)	H2BC9 (R30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475112	NM_003524.3(H2BC9):c.200T>C (p.Val67Ala)	H2BC9 (V67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103849	NM_003524.3(H2BC9):c.208A>C (p.Ile70Leu)	H2BC9 (I70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103850	NM_003524.3(H2BC9):c.227G>C (p.Gly76Ala)	H2BC9 (G76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512424	NM_003524.3(H2BC9):c.233C>T (p.Ala78Val)	H2BC9 (A78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103851	NM_003524.3(H2BC9):c.238C>A (p.Arg80Ser)	H2BC9 (R80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103852	NM_003524.3(H2BC9):c.254A>G (p.Asn85Ser)	H2BC9 (N85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103853	NM_003524.3(H2BC9):c.278G>A (p.Arg93Lys)	H2BC9 (R93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103854	NM_003524.3(H2BC9):c.293C>G (p.Ala98Gly)	H2BC9 (A98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612027	NM_003524.3(H2BC9):c.310C>T (p.Pro104Ser)	H2BC9 (P104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527230	GRCh37/hg19 6p22.2(chr6:25839165-26536884)	BTN2A1, BTN2A2 +42 more	Copy number gain	not specified	GUncertain significance
Select item 979707	GRCh37/hg19 6p22.2(chr6:26090243-26265667)x3	H2BC5, H2BC6 +19 more	Copy number gain	not provided	GUncertain significance
Select item 979706	GRCh37/hg19 6p22.2(chr6:26046566-26670193)x3	H2BC7, H2BC8 +34 more	Copy number gain	not provided	GUncertain significance
Select item 814804	GRCh37/hg19 6p22.2(chr6:26238509-26329714)x1	H2BC10, H2BC9 +7 more	Copy number loss	not provided	GLikely benign
Select item 688972	GRCh37/hg19 6p22.2(chr6:26067580-26306202)x3	H1-3, H1-4 +24 more	Copy number gain	not provided	GUncertain significance
Select item 686739	GRCh37/hg19 6p22.2(chr6:25996066-26303969)x3	H1-1, H1-2 +33 more	Copy number gain	not provided	GUncertain significance
Select item 685082	GRCh37/hg19 6p22.2(chr6:25896585-26287389)x4	H1-1, H1-2 +34 more	Copy number gain	not provided	GUncertain significance
Select item 563168	GRCh37/hg19 6p22.2(chr6:26178542-26670193)x3	H2BC6, H3C4 +26 more	Copy number gain	not provided	GUncertain significance
Select item 563167	GRCh37/hg19 6p22.2(chr6:25851789-26319486)x3	H1-1, H1-2 +36 more	Copy number gain	not provided	GUncertain significance
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 221451	GRCh37/hg19 6p22.2(chr6:26104332-26365573)x4	H3C4, H3C6 +24 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 28