H2AC17[gene] - ClinVar - NCBI

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Items: 19

	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 800317	NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys)	H2AC17 (E122K)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 2507727	NM_003514.2(H2AC17):c.339G>C (p.Gln113His)	H2AC17 (Q113H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103716	NM_003514.2(H2AC17):c.292C>G (p.Leu98Val)	H2AC17 (L98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103715	NM_003514.2(H2AC17):c.145C>T (p.Pro49Ser)	H2AC17 (P49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103714	NM_003514.2(H2AC17):c.136G>A (p.Ala46Thr)	H2AC17 (A46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103713	NM_003514.2(H2AC17):c.128G>A (p.Arg43Gln)	H2AC17 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103720	NM_003514.2(H2AC17):c.74A>G (p.Gln25Arg)	H2AC17 (Q25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103718	NM_003514.2(H2AC17):c.32C>G (p.Ala11Gly)	H2AC17 (A11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547548	NM_003514.2(H2AC17):c.14G>T (p.Gly5Val)	H2AC17 (G5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103721	NM_003514.2(H2AC17):c.8G>T (p.Gly3Val)	H2AC17 (G3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103719	NM_003514.2(H2AC17):c.5C>T (p.Ser2Phe)	H2AC17 (S2F)	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