ClinVar for Gene (Select 8348) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283329	NM_003527.4(H2BC17):c.79G>A (p.Gly27Ser)	H2BC17, LOC129996150 (G27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103799	NM_003527.4(H2BC17):c.79G>C (p.Gly27Arg)	H2BC17, LOC129996150 (G27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103798	NM_003527.4(H2BC17):c.32C>T (p.Pro11Leu)	H2BC17, LOC129996150 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103797	NM_003527.4(H2BC17):c.322G>A (p.Ala108Thr)	H2BC17 (A108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103796	NM_003527.4(H2BC17):c.269T>C (p.Ile90Thr)	H2BC17 (I90T)	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 2598587	NM_003527.4(H2BC17):c.38A>G (p.Lys13Arg)	H2BC17, LOC129996150 (K13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489984	NM_003527.4(H2BC17):c.9C>G (p.Asp3Glu)	H2BC17, LOC129996150 (D3E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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
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