3106[geneid] - ClinVar

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Items: 49

	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 739489	NM_005514.8(HLA-B):c.1074G>T (p.Val358=)	HLA-B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752503	NM_005514.8(HLA-B):c.981C>T (p.Val327=)	HLA-B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2656391	NM_005514.8(HLA-B):c.975T>C (p.Ala325=)	HLA-B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3342262	NM_005514.8(HLA-B):c.896-1G>C	HLA-B, MIR6891	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 3025081	NM_005514.8(HLA-B):c.834G>A (p.Glu278=)	HLA-B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681311	NM_005514.8(HLA-B):c.722G>A (p.Trp241Ter)	HLA-B (W241*)	Single nucleotide variant (nonsense)	EBV-positive nodal T- and NK-cell lymphoma	GPathogenic
Select item 2656392	NM_005514.8(HLA-B):c.648C>T (p.His216=)	HLA-B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3338280	NM_005514.8(HLA-B):c.619+3A>T	HLA-B	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3059333	NM_005514.8(HLA-B):c.539_540del (p.Arg180fs)	HLA-B (R180fs)	Deletion (frameshift variant)	HLA-B-related disorder	GBenign
Select item 3239177	NM_005514.8(HLA-B):c.538C>A (p.Arg180=)	HLA-B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3059849	NM_005514.8(HLA-B):c.537_538insGA (p.Arg180fs)	HLA-B (R180fs)	Insertion (frameshift variant)	HLA-B-related disorder	GBenign
Select item 3025088	NM_005514.8(HLA-B):c.489G>A (p.Ala163=)	HLA-B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060941	NM_005514.8(HLA-B):c.419A>C (p.Tyr140Ser)	HLA-B (Y140S)	Single nucleotide variant (missense variant)	HLA-B-related disorder	GBenign
Select item 2656393	NM_005514.8(HLA-B):c.397C>T (p.Leu133Phe)	HLA-B (L133F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3025032	NM_005514.8(HLA-B):c.368A>C (p.Tyr123Ser)	HLA-B (Y123S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656394	NM_005514.8(HLA-B):c.368A>T (p.Tyr123Phe)	HLA-B (Y123F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3059612	NM_005514.8(HLA-B):c.363C>G (p.Ser121Arg)	HLA-B (S121R)	Single nucleotide variant (missense variant)	HLA-B-related disorder	GBenign
Select item 3338112	NM_005514.8(HLA-B):c.343+1_343+2delinsTC	HLA-B	Indel (splice donor variant)	not provided	Gnot provided
Select item 3338111	NM_005514.8(HLA-B):c.343+1G>A	HLA-B	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3055858	NM_005514.8(HLA-B):c.319_320insCC (p.Gly107fs)	HLA-B (G107fs)	Insertion (frameshift variant)	HLA-B-related disorder	GLikely benign
Select item 3056636	NM_005514.8(HLA-B):c.319G>T (p.Gly107Cys)	HLA-B (G107C)	Single nucleotide variant (missense variant)	HLA-B-related disorder	GLikely benign
Select item 2656395	NM_005514.8(HLA-B):c.318C>G (p.Arg106=)	HLA-B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656397	NM_005514.8(HLA-B):c.315G>C (p.Leu105=)	HLA-B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656396	NM_005514.8(HLA-B):c.315G>T (p.Leu105=)	HLA-B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056409	NM_005514.8(HLA-B):c.314del (p.Leu105fs)	HLA-B (L105fs)	Deletion (frameshift variant)	HLA-B-related disorder	GLikely benign
Select item 3056094	NM_005514.8(HLA-B):c.311del (p.Asn104fs)	HLA-B (N104fs)	Deletion (frameshift variant)	HLA-B-related disorder	GLikely benign
Select item 3060355	NM_005514.8(HLA-B):c.282_283del (p.Gln94fs)	HLA-B (Q94fs)	Deletion (frameshift variant)	HLA-B-related disorder	GBenign
Select item 3060726	NM_005514.8(HLA-B):c.279_280insAA (p.Gln94fs)	HLA-B (Q94fs)	Insertion (frameshift variant)	HLA-B-related disorder	GBenign
Select item 3061033	NM_005514.8(HLA-B):c.277G>A (p.Ala93Thr)	HLA-B (A93T)	Single nucleotide variant (missense variant)	HLA-B-related disorder	GBenign
Select item 2656398	NM_005514.8(HLA-B):c.206_207insT (p.Glu69fs)	HLA-B (E69fs)	Insertion (frameshift variant)	not provided	GBenign
Select item 3055591	NM_005514.8(HLA-B):c.161A>G (p.Asp54Gly)	HLA-B (D54G)	Single nucleotide variant (missense variant)	HLA-B-related disorder	GLikely benign
Select item 2656399	NM_005514.8(HLA-B):c.117C>T (p.Pro39=)	HLA-B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3059738	NM_005514.8(HLA-B):c.97T>C (p.Tyr33His)	HLA-B (Y33H)	Single nucleotide variant (missense variant)	HLA-B-related disorder	GLikely benign
Select item 14910	HLA-B*57:01	HCP5, HLA-B	Single nucleotide variant (non-coding transcript variant)	Autism spectrum disorder +2 more	GPathogenic/Likely risk allele; risk 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 3362234	NM_005514.8(HLA-B):c.620-3C>G	HLA-B	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3362233	NM_005514.8(HLA-B):c.896-1G>A	HLA-B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 14911	HLA–B*58:01	HLA-B	Variation	Susceptibility to severe cutaneous adverse reaction +2 more	Grisk factor
Select item 14909	HLA-B*15:02	HLA-B	Variation	Susceptibility to severe cutaneous adverse reaction +2 more	Grisk factor
Select item 14908	HLA-B*27	HLA-B	Variation	Synovitis, chronic, susceptibility to +1 more	Grisk factor

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Items: 49