ClinVar for Gene (Select 3105) - ClinVar

Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363198	NM_002116.8(HLA-A):c.895+1G>T	HLA-A	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3340117	NM_002116.8(HLA-A):c.895+2T>C	HLA-A	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3338282	NM_002116.8(HLA-A):c.1013-1G>C	HLA-A	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 3338279	NM_002116.8(HLA-A):c.620-1G>A	HLA-A	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 3256931	NM_002116.8(HLA-A):c.704_722del (p.Ala235fs)	HLA-A (A235fs)	Deletion (frameshift variant)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 2681310	NM_002116.8(HLA-A):c.89G>A (p.Arg30Lys)	HLA-A (R30K)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2656330	NM_002116.8(HLA-A):c.1046-4C>T	HLA-A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656329	NM_002116.8(HLA-A):c.344-7G>A	HLA-A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2656328	NM_002116.8(HLA-A):c.261G>A (p.Glu87=)	HLA-A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1727052	NM_002116.8(HLA-A):c.301G>A (p.Asp101Asn)	HLA-A (D101N)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727051	NM_002116.8(HLA-A):c.299T>A (p.Val100Glu)	HLA-A (V100E)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727050	NM_002116.8(HLA-A):c.282G>C (p.Gln94His)	HLA-A (Q94H)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727049	NM_002116.8(HLA-A):c.1077C>T (p.Ser359=)	HLA-A	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727048	NM_002116.8(HLA-A):c.1072G>A (p.Val358Met)	HLA-A (V358M)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727047	NM_002116.8(HLA-A):c.1033A>T (p.Thr345Ser)	HLA-A (T345S)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727046	NM_002116.8(HLA-A):c.1029T>C (p.Ser343=)	HLA-A	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727045	NM_002116.8(HLA-A):c.992T>G (p.Met331Arg)	HLA-A (M331R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727044	NM_002116.8(HLA-A):c.987C>T (p.Ala329=)	HLA-A	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727043	NM_002116.8(HLA-A):c.967A>G (p.Thr323Ala)	HLA-A (T323A)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727042	NM_002116.8(HLA-A):c.180C>T (p.Phe60=)	HLA-A	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727041	NM_002116.8(HLA-A):c.964A>T (p.Ile322Phe)	HLA-A (I322F)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727040	NM_002116.8(HLA-A):c.961G>A (p.Val321Met)	HLA-A (V321M)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727039	NM_002116.8(HLA-A):c.952C>T (p.Leu318Phe)	HLA-A (L318F)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727038	NM_002116.8(HLA-A):c.945G>A (p.Leu315=)	HLA-A	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727037	NM_002116.8(HLA-A):c.899T>C (p.Leu300Pro)	HLA-A (L300P)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727036	NM_002116.8(HLA-A):c.829G>C (p.Glu277Gln)	HLA-A (E277Q)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727035	NM_002116.8(HLA-A):c.808G>T (p.Ala270Ser)	HLA-A (A270S)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727034	NM_002116.8(HLA-A):c.762C>T (p.Leu254=)	HLA-A	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727033	NM_002116.8(HLA-A):c.691G>A (p.Gly231Ser)	HLA-A (G231S)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727032	NM_002116.8(HLA-A):c.652A>G (p.Ile218Val)	HLA-A (I218V)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727031	NM_002116.8(HLA-A):c.41C>T (p.Ser14Leu)	HLA-A (S14L)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727030	NM_002116.8(HLA-A):c.651C>T (p.Pro217=)	HLA-A	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727029	NM_002116.8(HLA-A):c.649C>G (p.Pro217Ala)	HLA-A (P217A)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727028	NM_002116.8(HLA-A):c.642C>T (p.Thr214=)	HLA-A	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727027	NM_002116.8(HLA-A):c.633A>G (p.Thr211=)	HLA-A	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727026	NM_002116.8(HLA-A):c.622C>G (p.Pro208Ala)	HLA-A (P208A)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727025	NM_002116.8(HLA-A):c.555T>G (p.Asp185Glu)	HLA-A (D185E)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727024	NM_002116.8(HLA-A):c.527A>T (p.Glu176Val)	HLA-A (E176V)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727023	NM_002116.8(HLA-A):c.524A>G (p.His175Arg)	HLA-A (H175R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727022	NM_002116.8(HLA-A):c.502A>C (p.Lys168Gln)	HLA-A (K168Q)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727021	NM_002116.8(HLA-A):c.448C>T (p.Leu150=)	HLA-A	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727020	NM_002116.8(HLA-A):c.413G>A (p.Arg138Gln)	HLA-A (R138Q)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727019	NM_002116.8(HLA-A):c.397T>C (p.Phe133Leu)	HLA-A (F133L)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727018	NM_002116.8(HLA-A):c.385T>C (p.Ser129Pro)	HLA-A (S129P)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727017	NM_002116.8(HLA-A):c.363A>G (p.Ile121Met)	HLA-A (I121M)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727016	NM_002116.8(HLA-A):c.319G>C (p.Gly107Arg)	HLA-A (G107R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727015	NM_002116.8(HLA-A):c.317G>T (p.Arg106Leu)	HLA-A (R106L)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727014	NM_002116.8(HLA-A):c.314T>C (p.Leu105Pro)	HLA-A (L105P)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727013	NM_002116.8(HLA-A):c.313C>G (p.Leu105Val)	HLA-A (L105V)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727012	NM_002116.8(HLA-A):c.311C>T (p.Thr104Ile)	HLA-A (T104I)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727011	NM_002116.8(HLA-A):c.307G>C (p.Gly103Arg)	HLA-A (G103R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1727010	NM_002116.8(HLA-A):c.302A>G (p.Asp101Gly)	HLA-A (D101G)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1723892	NM_002116.8(HLA-A):c.[1029T>C;1033A>T1072G>A1077C>T180C>T282G>C299T>A301G>A302A>G307G>C311C>T313C>G314T>C317G>T319G>C363A>G385T>C397T>C413G>A41C>T448C>T502A>C524A>G527A>T555T>G622C>G633A>G642C>T649C>G651C>T652A>G691G>A762C>T808G>T829G>C899T>C945G>A952C>T961G>A964A>T967A>G987C>T992T>G]	HLA-A (D101G +32 more)	Single nucleotide variant (missense variant +1 more)	Vancomycin response	Gdrug response
Select item 1049967	NC_000006.12:g.29948263G>A	HLA-A	Single nucleotide variant	not provided	GUncertain significance
Select item 1049087	NC_000006.12:g.29941373A>G	HLA-A	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	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 441023	NM_002116.8(HLA-A):c.776del (p.Pro259fs)	HLA-A (P259fs)	Deletion (frameshift variant)	Susceptibility to severe cutaneous adverse reaction	Gnot provided
Select item 221363	chr6:29910602..29912297 complex variant	HLA-A	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221338	chr6:29910378..30075843 complex variant	HLA-A, POLR1H +3 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 208939	NM_002116.8(HLA-A):c.658G>C (p.Asp220His)	HLA-A (D220H)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 208938	NM_002116.8(HLA-A):c.383G>A (p.Gly128Glu)	HLA-A (G128E)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
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 147086	GRCh38/hg38 6p22.1(chr6:29887122-29969806)x1	HCG4B, HLA-A +1 more	Copy number loss	See cases	GBenign
Select item 29755	NM_001242758.1(HLA-A):c.*66A>T	HLA-A	Single nucleotide variant (3 prime UTR variant)	Carbamazepine hypersensitivity	Grisk factor

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Links from Gene

Items: 70