Related gene-specific medical variations for Gene (Select 757) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108292	NM_005534.4(IFNGR2):c.917T>C (p.Leu306Ser)	IFNGR2, TMEM50B (L306S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108291	NM_005534.4(IFNGR2):c.808G>A (p.Val270Ile)	IFNGR2, TMEM50B (V270I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108290	NM_005534.4(IFNGR2):c.737A>G (p.Gln246Arg)	IFNGR2, TMEM50B (Q246R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2916243	NM_005534.4(IFNGR2):c.849T>C (p.Thr283=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 2835549	NM_005534.4(IFNGR2):c.722-10C>T	IFNGR2, TMEM50B	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 28	GLikely benign
Select item 2826786	NM_005534.4(IFNGR2):c.786G>A (p.Leu262=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 28	GLikely benign
Select item 2708605	NM_005534.4(IFNGR2):c.805C>T (p.Leu269=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 28	GLikely benign
Select item 2550331	NM_005534.4(IFNGR2):c.824G>T (p.Gly275Val)	IFNGR2, TMEM50B (G275V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2428768	NM_005534.4(IFNGR2):c.985G>T (p.Glu329Ter)	IFNGR2, TMEM50B (E329* +1 more)	Single nucleotide variant (nonsense)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2420393	NM_005534.4(IFNGR2):c.958G>C (p.Val320Leu)	IFNGR2, TMEM50B (V320L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 2276683	NM_005534.4(IFNGR2):c.914C>A (p.Ala305Asp)	IFNGR2, TMEM50B (A324D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2173243	NM_005534.4(IFNGR2):c.972G>A (p.Ser324=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 2151330	NM_005534.4(IFNGR2):c.918G>A (p.Leu306=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2133409	NM_005534.4(IFNGR2):c.768T>C (p.Phe256=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 28	GLikely benign
Select item 2120319	NM_005534.4(IFNGR2):c.761G>T (p.Gly254Val)	IFNGR2, TMEM50B (G273V +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 28	GUncertain significance
Select item 2103308	NM_005534.4(IFNGR2):c.811C>T (p.Leu271=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 2100198	NM_005534.4(IFNGR2):c.1013G>C (p.Ter338Ser)	IFNGR2, TMEM50B	Single nucleotide variant (stop lost)	Immunodeficiency 28	GUncertain significance
Select item 1910102	NM_005534.4(IFNGR2):c.761G>A (p.Gly254Glu)	TMEM50B, IFNGR2 (G254E +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 28	GUncertain significance
Select item 1904361	NM_005534.4(IFNGR2):c.828G>A (p.Leu276=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1640156	NM_005534.4(IFNGR2):c.879+18_879+19insTT	IFNGR2, TMEM50B	Insertion (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1635322	NM_005534.4(IFNGR2):c.879+17C>G	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1627742	NM_005534.4(IFNGR2):c.879+31_879+32dup	IFNGR2, TMEM50B	Duplication (intron variant)	Immunodeficiency 28	GBenign
Select item 1600515	NM_005534.4(IFNGR2):c.879+32del	IFNGR2, TMEM50B	Deletion (intron variant)	Immunodeficiency 28	GBenign
Select item 1590379	NM_005534.4(IFNGR2):c.879+15A>G	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1587547	NM_005534.4(IFNGR2):c.939G>A (p.Lys313=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1585829	NM_005534.4(IFNGR2):c.879+19_879+20del	IFNGR2, TMEM50B	Microsatellite (intron variant)	Immunodeficiency 28	GBenign
Select item 1582386	NM_005534.4(IFNGR2):c.879+19_879+21del	IFNGR2, TMEM50B	Deletion (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1552176	NM_005534.4(IFNGR2):c.774G>A (p.Leu258=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 28	GLikely benign
Select item 1551289	NM_005534.4(IFNGR2):c.879+17C>A	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1507747	NM_005534.4(IFNGR2):c.869A>C (p.Gln290Pro)	IFNGR2, TMEM50B (Q309P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1496482	NM_005534.4(IFNGR2):c.934C>T (p.Pro312Ser)	TMEM50B, IFNGR2 (P312S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1488631	NM_005534.4(IFNGR2):c.791G>A (p.Gly264Glu)	IFNGR2, TMEM50B (G264E +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 28	GUncertain significance
Select item 1477423	NM_005534.4(IFNGR2):c.757G>A (p.Val253Met)	IFNGR2, TMEM50B (V253M +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 28	GUncertain significance
Select item 1476756	NM_005534.4(IFNGR2):c.971C>T (p.Ser324Leu)	IFNGR2, TMEM50B (S343L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1464225	NM_005534.4(IFNGR2):c.802T>C (p.Phe268Leu)	IFNGR2, TMEM50B (F287L +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 28	GUncertain significance
Select item 1461026	NM_005534.4(IFNGR2):c.1007C>T (p.Thr336Met)	IFNGR2, TMEM50B (T355M +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1418842	NM_005534.4(IFNGR2):c.724T>A (p.Ser242Thr)	IFNGR2, TMEM50B (S261T +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 28	GUncertain significance
Select item 1409659	NM_005534.4(IFNGR2):c.879+5G>A	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	Immunodeficiency 28	GUncertain significance
Select item 1399903	NM_005534.4(IFNGR2):c.946G>A (p.Val316Ile)	IFNGR2, TMEM50B (V316I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1299495	NM_005534.4(IFNGR2):c.800del (p.Phe267fs)	IFNGR2, TMEM50B (F267fs +1 more)	Deletion (frameshift variant +1 more)	Immunodeficiency 28	GLikely pathogenic
Select item 1276407	NM_005534.4(IFNGR2):c.880-87dup	IFNGR2, TMEM50B	Duplication (intron variant)	not provided	GBenign
Select item 1268638	NM_005534.4(IFNGR2):c.722-55T>C	IFNGR2, TMEM50B	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 1266737	NM_005534.4(IFNGR2):c.880-86T>A	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1170207	NM_005534.4(IFNGR2):c.879+19C>T	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1170170	NM_005534.4(IFNGR2):c.879+32dup	TMEM50B, IFNGR2	Duplication (intron variant)	Immunodeficiency 28 +1 more	GBenign
Select item 1165142	NM_005534.4(IFNGR2):c.879+18dup	IFNGR2, TMEM50B	Duplication (intron variant)	Immunodeficiency 28	GBenign
Select item 1145074	NM_005534.4(IFNGR2):c.722-8C>G	IFNGR2, TMEM50B	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 28	GLikely benign
Select item 1141838	NM_005534.4(IFNGR2):c.795C>T (p.Ala265=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 28	GLikely benign
Select item 1121682	NM_005534.4(IFNGR2):c.957T>C (p.Ser319=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1106598	NM_005534.4(IFNGR2):c.779C>T (p.Ser260Leu)	IFNGR2, TMEM50B (S260L +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 28	GLikely benign
Select item 1080362	NM_005534.4(IFNGR2):c.780G>C (p.Ser260=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 28	GLikely benign
Select item 1046008	NM_005534.4(IFNGR2):c.990AGA[1] (p.Glu331del)	IFNGR2, TMEM50B (E331del +1 more)	Microsatellite (inframe_deletion)	Immunodeficiency 28	GUncertain significance
Select item 998754	NM_005534.4(IFNGR2):c.788C>T (p.Ala263Val)	IFNGR2, TMEM50B (A263V +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 28	GUncertain significance
Select item 960830	NM_005534.4(IFNGR2):c.977C>T (p.Pro326Leu)	IFNGR2, TMEM50B (P326L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 916343	NM_005534.4(IFNGR2):c.945C>T (p.Asp315=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 842557	NM_005534.4(IFNGR2):c.1006A>G (p.Thr336Ala)	IFNGR2, TMEM50B (T355A +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 840030	NM_005534.4(IFNGR2):c.879+4C>T	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	Immunodeficiency 28	GUncertain significance
Select item 840029	NM_005534.4(IFNGR2):c.949T>C (p.Trp317Arg)	IFNGR2, TMEM50B (W317R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 749643	NM_005534.4(IFNGR2):c.771G>A (p.Ser257=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 28	GLikely benign
Select item 717050	NM_005534.4(IFNGR2):c.756C>T (p.Ser252=)	TMEM50B, IFNGR2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 28 +2 more	GLikely benign
Select item 664258	NM_005534.4(IFNGR2):c.1007C>G (p.Thr336Arg)	IFNGR2, TMEM50B (T336R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 662505	NM_005534.4(IFNGR2):c.914C>T (p.Ala305Val)	IFNGR2, TMEM50B (A305V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 640908	NM_005534.4(IFNGR2):c.764C>T (p.Thr255Ile)	IFNGR2, TMEM50B (T274I +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 28	GUncertain significance
Select item 582786	NM_005534.4(IFNGR2):c.940G>A (p.Asp314Asn)	IFNGR2, TMEM50B (D314N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 569520	NM_005534.4(IFNGR2):c.780G>A (p.Ser260=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 28	GLikely benign
Select item 474971	NM_005534.4(IFNGR2):c.978G>A (p.Pro326=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	IFNGR2-related disorder +2 more	GBenign/Likely benign
Select item 111260	NM_005534.4(IFNGR2):c.984G>A (p.Lys328=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GBenign
Select item 111259	NM_005534.4(IFNGR2):c.889G>A (p.Asp297Asn)	TMEM50B, IFNGR2 (D297N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 111258	NM_005534.4(IFNGR2):c.880-135_880-113dup	IFNGR2, TMEM50B	Duplication (intron variant)	not provided	Gnot provided
Select item 111257	NM_005534.4(IFNGR2):c.780G>T (p.Ser260=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 111254	NM_005534.4(IFNGR2):c.722-91A>T	TMEM50B, IFNGR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 111253	NM_005534.4(IFNGR2):c.722-42C>T	TMEM50B, IFNGR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 111251	NM_005534.4(IFNGR2):c.721+173A>C	TMEM50B, IFNGR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	Gnot provided
Select item 111231	NM_005534.4(IFNGR2):c.1008G>A (p.Thr336=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 111230	NM_005534.4(IFNGR2):c.*352C>T	IFNGR2, TMEM50B	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 36377	NM_005534.4(IFNGR2):c.879+19del	IFNGR2, TMEM50B	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 76