ClinVar for Gene (Select 3135) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2656327	NM_001384290.1(HLA-G):c.846G>A (p.Thr282=)	HLA-G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628037	NM_001384290.1(HLA-G):c.65_66insATTTGTTCATGCCT	HLA-G	Insertion (3 prime UTR variant)	Post-COVID-19 disorder	GLikely risk allele
Select item 1808143	GRCh37/hg19 6p22.1(chr6:29730504-30202199)x3	HCG17, HLA-A +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807671	GRCh37/hg19 6p22.1(chr6:29162783-30236331)x3	GABBR1, HCG17 +23 more	Copy number gain	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 782473	NM_001384290.1(HLA-G):c.372C>T (p.Gly124=)	HLA-G	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776116	NM_001384290.1(HLA-G):c.237G>A (p.Glu79=)	HLA-G	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774644	NM_001384290.1(HLA-G):c.177G>A (p.Arg59=)	HLA-G	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728223	NM_001384290.1(HLA-G):c.705G>A (p.Ala235=)	HLA-G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727913	NM_001384290.1(HLA-G):c.105C>G (p.Ala35=)	HLA-G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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