3107[geneid] - ClinVar - NCBI

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Items: 16

	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 1246876	NM_002117.6(HLA-C):c.97G>T (p.Asp33Tyr)	HLA-C (D33Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2681312	NM_002117.6(HLA-C):c.74-4C>T	HLA-C	Single nucleotide variant (intron variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2656389	NM_002117.6(HLA-C):c.70G>A (p.Ala24Thr)	HLA-C (A24T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656390	NM_002117.6(HLA-C):c.24C>T (p.Ala8=)	HLA-C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 14907	NC_000006.12:g.31306603T>C	HLA-C	Single nucleotide variant	HIV-1 viremia, susceptibility to	Grisk factor
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
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 221364	chr6:31237124-31378388 complex variant	HLA-B, HLA-C +1 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221339	Single allele	CCHCR1, CDSN +6 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 14906	HLA-C, HLA-Cw6	HLA-C	Variation	Psoriasis 1, susceptibility to	Grisk factor