H2BC14[gene] - ClinVar - NCBI

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Items: 15

	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 2603969	NM_003521.3(H2BC14):c.25C>T (p.Pro9Ser)	H2BC14 (P9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103793	NM_003521.3(H2BC14):c.52G>A (p.Ala18Thr)	H2BC14 (A18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485993	NM_003521.3(H2BC14):c.116C>G (p.Ser39Cys)	H2BC14 (S39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494936	NM_003521.3(H2BC14):c.179T>C (p.Met60Thr)	H2BC14 (M60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283326	NM_003521.3(H2BC14):c.189G>A (p.Met63Ile)	H2BC14 (M63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103791	NM_003521.3(H2BC14):c.344G>A (p.Gly115Asp)	H2BC14 (G115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103792	NM_003521.3(H2BC14):c.371G>A (p.Ser124Asn)	H2BC14 (S124N)	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