ClinVar for Gene (Select 8332) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283304	NM_003511.3(H2AC16):c.136G>T (p.Ala46Ser)	H2AC16 (A46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103712	NM_003511.3(H2AC16):c.62G>T (p.Arg21Leu)	H2AC16 (R21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103711	NM_003511.3(H2AC16):c.281T>A (p.Leu94His)	H2AC16 (L94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103710	NM_003511.3(H2AC16):c.248A>C (p.His83Pro)	H2AC16 (H83P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103709	NM_003511.3(H2AC16):c.137C>T (p.Ala46Val)	H2AC16 (A46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103708	NM_003511.3(H2AC16):c.110A>G (p.Lys37Arg)	H2AC16 (K37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103707	NM_003511.3(H2AC16):c.107G>A (p.Arg36His)	H2AC16 (R36H)	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 2656317	NM_003511.3(H2AC16):c.345G>T (p.Val115=)	H2AC16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602670	NM_003511.3(H2AC16):c.59C>T (p.Ser20Phe)	H2AC16 (S20F)	Single nucleotide variant (missense variant)	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 800324	NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly)	H2AC16 (A15G)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
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