3123[geneid] - ClinVar

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Items: 48

	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 146974	GRCh38/hg38 6p21.32(chr6:32444210-32584357)x3	HLA-DRA, HLA-DRB1 +2 more	Copy number gain	See cases	GBenign
Select item 147187	GRCh38/hg38 6p21.32(chr6:32482945-32597031)x3	HLA-DRB1, HLA-DRB5	Copy number gain	See cases	GBenign
Select item 147158	GRCh38/hg38 6p21.32(chr6:32482945-32669311)x3	HLA-DQA1, HLA-DQB1 +4 more	Copy number gain	See cases	GBenign
Select item 146945	GRCh38/hg38 6p21.32(chr6:32482945-32584357)x0	HLA-DRB1, HLA-DRB5	Copy number loss	See cases	GBenign
Select item 146944	GRCh38/hg38 6p21.32(chr6:32482945-32584357)x3	HLA-DRB1, HLA-DRB5	Copy number gain	See cases	GBenign
Select item 146996	GRCh38/hg38 6p21.32(chr6:32519674-32614050)x3	HLA-DRB1, HLA-DRB5	Copy number gain	See cases	GBenign
Select item 149456	GRCh38/hg38 6p21.32(chr6:32529565-32721089)x3	HLA-DQA1, HLA-DQB1 +7 more	Copy number gain	See cases	GLikely benign
Select item 2656457	NM_002124.4(HLA-DRB1):c.780G>A (p.Gln260=)	HLA-DRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656458	NM_002124.4(HLA-DRB1):c.779A>C (p.Gln260Pro)	HLA-DRB1 (Q260P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3065325	NM_002124.4(HLA-DRB1):c.764-2A>G	HLA-DRB1	Single nucleotide variant (splice acceptor variant)	Multiple sclerosis, susceptibility to	GLikely pathogenic
Select item 3024757	NM_002124.4(HLA-DRB1):c.763+1G>C	HLA-DRB1	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 2656459	NM_002124.4(HLA-DRB1):c.652+3G>A	HLA-DRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1050468	NM_002124.4(HLA-DRB1):c.490G>A (p.Gly164Ser)	HLA-DRB1 (G164S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067389	NM_002124.4(HLA-DRB1):c.483C>T (p.Phe161=)	HLA-DRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060198	NM_002124.4(HLA-DRB1):c.446G>A (p.Ser149Asn)	HLA-DRB1 (S149N)	Single nucleotide variant (missense variant)	HLA-DRB1-related disorder	GLikely benign
Select item 2656460	NM_002124.4(HLA-DRB1):c.402G>A (p.Lys134=)	HLA-DRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049377	NM_002124.4(HLA-DRB1):c.379A>G (p.Lys127Glu)	HLA-DRB1 (K127E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2656461	NM_002124.4(HLA-DRB1):c.336C>T (p.Tyr112=)	HLA-DRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 691505	NM_002124.4(HLA-DRB1):c.307G>C (p.Ala103Pro)	HLA-DRB1 (A103P +1 more)	Single nucleotide variant (no sequence alteration +1 more)	not provided	GUncertain significance
Select item 2656462	NM_002124.4(HLA-DRB1):c.303G>T (p.Arg101=)	HLA-DRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056296	NM_002124.4(HLA-DRB1):c.300_301insAG (p.Arg101fs)	HLA-DRB1 (R101fs)	Duplication (frameshift variant)	HLA-DRB1-related disorder	GLikely benign
Select item 2656463	NM_002124.4(HLA-DRB1):c.297G>A (p.Gln99=)	HLA-DRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696856	NM_002124.4(HLA-DRB1):c.242A>T (p.Glu81Val)	HLA-DRB1 (E81V)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 2499004	NM_002124.4(HLA-DRB1):c.199del (p.Val67fs)	HLA-DRB1 (V67fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 1296897	NM_002124.4(HLA-DRB1):c.197C>T (p.Ser66Phe)	HLA-DRB1 (N66I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1260112	NM_002124.4(HLA-DRB1):c.197C>A (p.Ser66Tyr)	HLA-DRB1 (F66Y +1 more)	Single nucleotide variant (no sequence alteration +1 more)	not provided	GBenign
Select item 2499005	NM_002124.4(HLA-DRB1):c.195_196insC (p.Ser66fs)	HLA-DRB1 (S66fs)	Insertion (frameshift variant)	not provided	GBenign
Select item 2499006	NM_002124.4(HLA-DRB1):c.165C>A (p.Phe55Leu)	HLA-DRB1 (F55L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3362728	NM_002124.4(HLA-DRB1):c.124_127delinsTATA (p.Arg42_Glu43delinsTyrLys)	HLA-DRB1	Indel (missense variant)	Multiple sclerosis, susceptibility to	GUncertain significance
Select item 3064715	NM_002124.4(HLA-DRB1):c.125_127del (p.Arg42_Glu43delinsLys)	HLA-DRB1	Deletion (inframe_indel)	Multiple sclerosis, susceptibility to	GUncertain significance
Select item 3059269	NM_002124.4(HLA-DRB1):c.118_119insT (p.Pro40fs)	HLA-DRB1 (P40fs)	Insertion (frameshift variant)	HLA-DRB1-related disorder	GLikely benign
Select item 3059842	NM_002124.4(HLA-DRB1):c.117_118insTA (p.Pro40fs)	HLA-DRB1 (P40fs)	Insertion (frameshift variant)	HLA-DRB1-related disorder	GLikely benign
Select item 1285053	NM_002124.4(HLA-DRB1):c.117_118insT (p.Pro40fs)	HLA-DRB1 (G40fs +3 more)	Insertion (frameshift variant)	not specified	GBenign
Select item 3059066	NM_002124.4(HLA-DRB1):c.100+1G>C	HLA-DRB1	Single nucleotide variant (splice donor variant)	HLA-DRB1-related disorder	GLikely benign
Select item 2656464	NM_002124.4(HLA-DRB1):c.96C>T (p.Thr32=)	HLA-DRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656465	NM_002124.4(HLA-DRB1):c.61G>A (p.Val21Met)	HLA-DRB1 (V21M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656466	NM_002124.4(HLA-DRB1):c.55C>T (p.Leu19=)	HLA-DRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656467	NM_002124.4(HLA-DRB1):c.33C>T (p.Cys11=)	HLA-DRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
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 221340	Single allele	BTNL2, HLA-DQA1 +6 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 29757	HLA-DRB1, DRB1*1501	HLA-DRB1	Variation	Multiple sclerosis, susceptibility to 1	Grisk factor
Select item 14905	HLA-DRB1, HLA-DRB1*1101	HLA-DRB1	Variation	Sarcoidosis, susceptibility to, 1	Grisk factor

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Items: 48