7067[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 148534	GRCh38/hg38 16p13.13(chr16:10778551-11374173)x3	CIITA, CLEC16A +81 more	Copy number gain	See cases	GLikely benign
Select item 102953	NM_000246.3(CIITA):c.-696C>T	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 102955	NM_000246.3(CIITA):c.-479C>T	LOC130058441, 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 1168170	NC_000016.10:g.10877045G>A	CIITA	Single nucleotide variant (genic upstream transcript variant)	MHC class II deficiency +1 more	GBenign
Select item 9546	NC_000016.10:g.10877045=	CIITA	Single nucleotide variant (genic upstream transcript variant)	Rheumatoid arthritis	Grisk factor
Select item 102957	NM_000246.3(CIITA):c.-168G>A	CIITA	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided
Select item 317671	NM_000246.4(CIITA):c.-115T>G	CIITA	Single nucleotide variant (5 prime UTR variant +1 more)	MHC class II deficiency	GLikely benign
Select item 886404	NM_000246.4(CIITA):c.-84C>T	CIITA, LOC130058442	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 317673	NM_000246.4(CIITA):c.-46G>A	CIITA, LOC130058442	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
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 2116142	NM_000246.4(CIITA):c.2T>G (p.Met1Arg)	CIITA (M1R)	Single nucleotide variant (missense variant +2 more)	MHC class II deficiency	GUncertain significance
Select item 965520	NM_000246.4(CIITA):c.4C>A (p.Arg2Ser)	CIITA (R2S)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 657102	NM_000246.4(CIITA):c.5G>A (p.Arg2His)	CIITA (R2H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 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 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 661814	NM_000246.4(CIITA):c.20G>A (p.Arg7His)	CIITA, LOC130058443 (R7H)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GConflicting classifications of pathogenicity
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 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 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 1151812	NM_000246.4(CIITA):c.30G>A (p.Gly10=)	CIITA, LOC130058443	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency +1 more	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 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 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 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 972030	NM_000246.4(CIITA):c.47C>T (p.Pro16Leu)	LOC130058443, CIITA (P16L)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
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 1556098	NM_000246.4(CIITA):c.52+9G>T	CIITA, LOC130058443	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
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 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 2201088	NM_000246.4(CIITA):c.52+12G>A	CIITA, LOC130058443	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
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 2145681	NM_000246.4(CIITA):c.52+19C>T	CIITA, LOC130058443	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2718043	NM_000246.4(CIITA):c.53-18C>G	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1567108	NM_000246.4(CIITA):c.53-18C>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2992677	NM_000246.4(CIITA):c.53-16T>C	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2134220	NM_000246.4(CIITA):c.53-15T>C	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 887410	NM_000246.4(CIITA):c.53-12C>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GBenign/Likely benign
Select item 2802994	NM_000246.4(CIITA):c.53-11T>C	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2860794	NM_000246.4(CIITA):c.53-9C>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1554196	NM_000246.4(CIITA):c.53-9C>G	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1101407	NM_000246.4(CIITA):c.53-5C>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 2015675	NM_000246.4(CIITA):c.57C>T (p.Ser19=)	CIITA	Single nucleotide variant (synonymous variant +2 more)	MHC class II deficiency	GLikely benign
Select item 1127625	NM_000246.4(CIITA):c.63G>A (p.Gln21=)	CIITA	Single nucleotide variant (synonymous variant +2 more)	MHC class II deficiency	GLikely benign
Select item 887411	NM_000246.4(CIITA):c.63G>C (p.Gln21His)	CIITA (Q21H)	Single nucleotide variant (missense variant +2 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 2592379	NM_000246.4(CIITA):c.67G>T (p.Ala23Ser)	CIITA (A23S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3002265	NM_000246.4(CIITA):c.69C>T (p.Ala23=)	CIITA	Single nucleotide variant (synonymous variant +2 more)	MHC class II deficiency	GLikely benign
Select item 661060	NM_000246.4(CIITA):c.78G>C (p.Glu26Asp)	CIITA (E26D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1159659	NM_000246.4(CIITA):c.79T>C (p.Leu27=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2875062	NM_000246.4(CIITA):c.84G>T (p.Gly28=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1984651	NM_000246.4(CIITA):c.84G>A (p.Gly28=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1660245	NM_000246.4(CIITA):c.87C>A (p.Pro29=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 944291	NM_000246.4(CIITA):c.89T>C (p.Leu30Pro)	CIITA (L30P +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 3054949	NM_000246.4(CIITA):c.97G>A (p.Gly33Ser)	CIITA (G33S +1 more)	Single nucleotide variant (missense variant +1 more)	CIITA-related disorder	GUncertain significance
Select item 1092575	NM_000246.4(CIITA):c.102C>T (p.Tyr34=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1931969	NM_000246.4(CIITA):c.105G>A (p.Leu35=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2864224	NM_000246.4(CIITA):c.108G>A (p.Glu36=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 852634	NM_000246.4(CIITA):c.109C>A (p.Leu37Ile)	CIITA (L37I +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 1477721	NM_000246.4(CIITA):c.112C>T (p.Leu38Phe)	CIITA (L14F +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 1664534	NM_000246.4(CIITA):c.120C>T (p.Ser40=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1125705	NM_000246.4(CIITA):c.126T>C (p.Ala42=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2142321	NM_000246.4(CIITA):c.129C>T (p.Asp43=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2156830	NM_000246.4(CIITA):c.133C>A (p.Leu45Met)	CIITA (L45M +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 317674	NM_000246.4(CIITA):c.133C>G (p.Leu45Val)	CIITA (L45V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2029591	NM_000246.4(CIITA):c.135G>A (p.Leu45=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1039084	NM_000246.4(CIITA):c.139C>G (p.Leu47Val)	CIITA (L23V +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 743724	NM_000246.4(CIITA):c.141C>G (p.Leu47=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2140283	NM_000246.4(CIITA):c.145_147del (p.His49del)	CIITA (H49del +1 more)	Deletion (inframe_deletion +1 more)	MHC class II deficiency	GUncertain significance
Select item 2887987	NM_000246.4(CIITA):c.144C>T (p.Tyr48=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 317675	NM_000246.4(CIITA):c.147C>T (p.His49=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 2040796	NM_000246.4(CIITA):c.153T>C (p.Tyr51=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1377704	NM_000246.4(CIITA):c.160A>G (p.Met54Val)	CIITA (M54V +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 2200934	NM_000246.4(CIITA):c.164A>G (p.Asp55Gly)	CIITA (D31G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1151463	NM_000246.4(CIITA):c.165C>T (p.Asp55=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 528781	NM_000246.4(CIITA):c.170C>A (p.Ala57Asp)	CIITA (A57D +1 more)	Single nucleotide variant (missense variant +1 more)	Rheumatoid arthritis +1 more	GConflicting classifications of pathogenicity
Select item 2175996	NM_000246.4(CIITA):c.171T>C (p.Ala57=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
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 954718	NM_000246.4(CIITA):c.174AGA[2] (p.Glu61del)	CIITA (E61del +1 more)	Microsatellite (inframe_deletion +1 more)	MHC class II deficiency	GUncertain significance
Select item 2196277	NM_000246.4(CIITA):c.185T>C (p.Ile62Thr)	CIITA (I38T +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 1450687	NM_000246.4(CIITA):c.190C>T (p.Leu64Phe)	CIITA (L64F +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 2013216	NM_000246.4(CIITA):c.192C>T (p.Leu64=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 2103962	NM_000246.4(CIITA):c.195C>T (p.Tyr65=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency	GLikely benign
Select item 1932933	NM_000246.4(CIITA):c.196T>G (p.Ser66Ala)	CIITA (S42A +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 1496695	NM_000246.4(CIITA):c.199+1G>A	CIITA	Single nucleotide variant (splice donor variant)	MHC class II deficiency	GLikely pathogenic
Select item 1045259	NM_000246.4(CIITA):c.199+6C>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GUncertain significance
Select item 2865735	NM_000246.4(CIITA):c.199+10C>T	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 3015940	NM_000246.4(CIITA):c.199+20dup	CIITA	Duplication (intron variant)	MHC class II deficiency	GLikely benign
Select item 2844685	NM_000246.4(CIITA):c.199+20G>C	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency	GLikely benign
Select item 1184674	NM_000246.4(CIITA):c.199+89C>T	CIITA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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