Related gene-specific medical variations for Gene (Select 4261) - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220938	NM_000246.4(CIITA):c.2551G>C (p.Ala851Pro)	CIITA (A802P +4 more)	Single nucleotide variant (missense variant +1 more)	Hodgkin lymphoma, susceptibility to	GUncertain significance
Select item 3016831	NM_000246.4(CIITA):c.52+11C>T	CIITA, LOC130058443	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2782198	NM_000246.4(CIITA):c.52+11C>A	CIITA, LOC130058443	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2731404	NM_000246.4(CIITA):c.21C>G (p.Arg7=)	CIITA, LOC130058443	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2690567	NM_000246.4(CIITA):c.2698C>T (p.Gln900Ter)	CIITA (Q316* +5 more)	Single nucleotide variant (nonsense)	MHC class II deficiency	GLikely pathogenic
Select item 2600640	NM_014015.4(DEXI):c.37C>G (p.Leu13Val)	CIITA, DEXI (L13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544596	NM_014015.4(DEXI):c.43C>T (p.Pro15Ser)	CIITA, DEXI (P15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480288	NM_014015.4(DEXI):c.208C>A (p.Leu70Ile)	DEXI, CIITA (L70I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459740	NM_014015.4(DEXI):c.100T>C (p.Phe34Leu)	CIITA, DEXI (F34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2440086	NM_000246.4(CIITA):c.2537A>G (p.His846Arg)	CIITA (H797R +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 2409461	NM_014015.4(DEXI):c.28C>G (p.Leu10Val)	CIITA, DEXI (L10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368000	NM_014015.4(DEXI):c.226C>T (p.Pro76Ser)	CIITA, DEXI (P76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332996	NM_014015.4(DEXI):c.33C>A (p.Asp11Glu)	CIITA, DEXI (D11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314139	NM_014015.4(DEXI):c.217C>T (p.Leu73Phe)	CIITA, DEXI (L73F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279910	NM_014015.4(DEXI):c.262G>C (p.Asp88His)	CIITA, DEXI (D88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239518	NM_014015.4(DEXI):c.26A>C (p.His9Pro)	CIITA, DEXI (H9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220671	NM_014015.4(DEXI):c.70C>G (p.Leu24Val)	CIITA, DEXI (L24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201088	NM_000246.4(CIITA):c.52+12G>A	LOC130058443, CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2179059	NM_000246.4(CIITA):c.19C>A (p.Arg7Ser)	CIITA, LOC130058443 (R7S)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 2145681	NM_000246.4(CIITA):c.52+19C>T	CIITA, LOC130058443	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2074299	NM_000246.4(CIITA):c.12G>C (p.Leu4=)	CIITA, LOC130058443	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1902656	NM_000246.4(CIITA):c.23C>G (p.Pro8Arg)	CIITA, LOC130058443 (P8R)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 1664791	NM_000246.4(CIITA):c.52+14G>A	CIITA, LOC130058443	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1660699	NM_000246.4(CIITA):c.52+8G>T	CIITA, LOC130058443	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1568687	NM_000246.4(CIITA):c.33C>A (p.Ser11=)	CIITA, LOC130058443	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1556098	NM_000246.4(CIITA):c.52+9G>T	CIITA, LOC130058443	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1151812	NM_000246.4(CIITA):c.30G>A (p.Gly10=)	CIITA, LOC130058443	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1102114	NM_000246.4(CIITA):c.21C>A (p.Arg7=)	CIITA, LOC130058443	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1076860	NM_000246.4(CIITA):c.36C>A (p.Tyr12Ter)	CIITA, LOC130058443 (Y12*)	Single nucleotide variant (nonsense +1 more)	MHC class II deficiency	GPathogenic
Select item 1017670	NM_000246.4(CIITA):c.19C>T (p.Arg7Cys)	CIITA, LOC130058443 (R7C)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 991994	NM_000246.4(CIITA):c.2053G>T (p.Val685Leu)	CIITA (V636L +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 991989	NM_000246.4(CIITA):c.1322G>A (p.Arg441Gln)	CIITA (R392Q +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 991987	NM_000246.4(CIITA):c.1138C>G (p.Arg380Gly)	CIITA (R331G +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 991985	NM_000246.4(CIITA):c.1076T>C (p.Ile359Thr)	CIITA (I310T +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 991983	NM_000246.4(CIITA):c.1010C>A (p.Pro337Gln)	CIITA (P288Q +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 991980	NM_000246.4(CIITA):c.791G>A (p.Ser264Asn)	CIITA (S215N +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 991979	NM_000246.4(CIITA):c.789C>G (p.Ala263=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 991976	NM_000246.4(CIITA):c.628+4T>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GUncertain significance
Select item 991975	NM_000246.4(CIITA):c.567G>C (p.Ala189=)	CIITA	Single nucleotide variant (synonymous variant +2 more)	MHC class II deficiency	GUncertain significance
Select item 990982	NM_000246.4(CIITA):c.534C>A (p.Asp178Glu)	CIITA (D155E +2 more)	Single nucleotide variant (missense variant +2 more)	MHC class II deficiency	GUncertain significance
Select item 990980	NM_000246.4(CIITA):c.436+3G>C	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GUncertain significance
Select item 990979	NM_000246.4(CIITA):c.412G>T (p.Val138Phe)	CIITA (V115F +2 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 990976	NM_000246.4(CIITA):c.174A>T (p.Gly58=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 990975	NM_000246.4(CIITA):c.-4C>T	CIITA	Single nucleotide variant (5 prime UTR variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 989914	NM_000246.4(CIITA):c.3008G>T (p.Gly1003Val)	CIITA (G1003V +5 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 989912	NM_000246.4(CIITA):c.2889-9G>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GUncertain significance
Select item 989910	NM_000246.4(CIITA):c.2830T>C (p.Ser944Pro)	CIITA (S360P +5 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 989909	NM_000246.4(CIITA):c.2734G>A (p.Glu912Lys)	CIITA (E328K +5 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 989906	NM_000246.4(CIITA):c.2324G>A (p.Gly775Glu)	CIITA (G726E +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 989903	NM_000246.4(CIITA):c.2237C>T (p.Pro746Leu)	CIITA (P697L +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 972030	NM_000246.4(CIITA):c.47C>T (p.Pro16Leu)	CIITA, LOC130058443 (P16L)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 886405	NM_000246.4(CIITA):c.-83C>T	CIITA, LOC130058442	Single nucleotide variant (5 prime UTR variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 886404	NM_000246.4(CIITA):c.-84C>T	CIITA, LOC130058442	Single nucleotide variant (5 prime UTR variant +1 more)	MHC class II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 661814	NM_000246.4(CIITA):c.20G>A (p.Arg7His)	CIITA, LOC130058443 (R7H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 648829	NM_000246.4(CIITA):c.38T>C (p.Leu13Pro)	CIITA, LOC130058443 (L13P)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 644969	NM_000246.4(CIITA):c.14C>G (p.Ala5Gly)	CIITA, LOC130058443 (A5G)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 636656	NM_000246.4(CIITA):c.3317+2dup	CIITA	Duplication (splice donor variant)	not provided	GLikely pathogenic
Select item 571550	NM_000246.4(CIITA):c.44A>G (p.Glu15Gly)	CIITA, LOC130058443 (E15G)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 317673	NM_000246.4(CIITA):c.-46G>A	CIITA, LOC130058442	Single nucleotide variant (5 prime UTR variant +1 more)	MHC class II deficiency	GBenign
Select item 317672	NM_000246.4(CIITA):c.-82G>A	CIITA, LOC130058442	Single nucleotide variant (5 prime UTR variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 103012	NM_000246.4(CIITA):c.628+84G>A	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103011	NM_000246.4(CIITA):c.580G>A (p.Glu194Lys)	CIITA (E194K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 103010	NM_000246.4(CIITA):c.52+9G>A	CIITA, LOC130058443	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 103009	NM_000246.4(CIITA):c.482-162C>T	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103008	NM_000246.4(CIITA):c.481+167G>A	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103007	NM_000246.4(CIITA):c.359-23G>T	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103006	NM_000246.4(CIITA):c.3318-176C>T	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103005	NM_000246.4(CIITA):c.3150-77A>C	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103004	NM_000246.4(CIITA):c.3149+224C>G	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103003	NM_000246.4(CIITA):c.3063-163T>C	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103002	NM_000246.4(CIITA):c.2945C>T (p.Ala982Val)	CIITA (A982V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 103001	NM_000246.4(CIITA):c.2816+188T>G	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103000	NM_000246.4(CIITA):c.2658-149G>T	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102999	NM_000246.4(CIITA):c.2658-138G>A	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102998	NM_000246.4(CIITA):c.2657+107C>A	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102992	NM_000246.4(CIITA):c.1007-94A>G	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102991	NM_000246.4(CIITA):c.1007-54C>T	CIITA	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102957	NM_000246.3(CIITA):c.-168G>A	CIITA	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided
Select item 102956	NM_000246.3(CIITA):c.-415C>T	CIITA	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided
Select item 102955	NM_000246.3(CIITA):c.-479C>T	LOC130058441, CIITA	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided
Select item 102954	NM_000246.3(CIITA):c.-521A>G	CIITA	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided
Select item 102953	NM_000246.3(CIITA):c.-696C>T	CIITA	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided

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Links from Gene

Items: 82