ClinVar for Gene (Select 757) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179515	NM_006134.7(TMEM50B):c.88G>T (p.Ala30Ser)	TMEM50B (A30S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179514	NM_006134.7(TMEM50B):c.26G>A (p.Arg9His)	TMEM50B (R9H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179513	NM_006134.7(TMEM50B):c.230A>G (p.Asn77Ser)	TMEM50B (N77S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	TMEM50B, IFNGR2 (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)	TMEM50B, IFNGR2 (Q246R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062422	GRCh37/hg19 21q22.11(chr21:34809971-34966753)x1	CRYZL1, DNAJC28 +4 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
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 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
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 2539649	NM_006134.7(TMEM50B):c.440T>C (p.Ile147Thr)	TMEM50B (I147T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521310	NM_006134.7(TMEM50B):c.145C>A (p.Pro49Thr)	TMEM50B (P49T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467864	NM_006134.7(TMEM50B):c.136G>C (p.Val46Leu)	TMEM50B (V46L)	Single nucleotide variant (missense variant +1 more)	not specified	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 2412172	NM_006134.7(TMEM50B):c.177C>A (p.His59Gln)	TMEM50B (H59Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288005	NM_006134.7(TMEM50B):c.374A>G (p.Asn125Ser)	TMEM50B (N125S)	Single nucleotide variant (missense variant +1 more)	not specified	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 2207670	NM_006134.7(TMEM50B):c.194C>T (p.Ser65Phe)	TMEM50B (S65F)	Single nucleotide variant (missense variant +1 more)	not specified	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)	IFNGR2, TMEM50B (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 1711546	GRCh37/hg19 21q22.11(chr21:33032083-34809269)x3	CFAP298, EPCIP +17 more	Copy number gain	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
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 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KCNJ6, ATP5PO +91 more	Copy number gain	not specified	GPathogenic
Select item 1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	CRYZL1, CYYR1 +77 more	Copy number loss	not specified	GUncertain significance
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
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 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	HUNK, MRAP +48 more	Duplication	DYRK1A-related intellectual disability syndrome +1 more	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 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1339970	GRCh37/hg19 21q22.11(chr21:32676376-35131913)x3	C21orf62, CFAP298 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
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 (intron variant +1 more)	not specified +1 more	GBenign
Select item 1266737	NM_005534.4(IFNGR2):c.880-86T>A	TMEM50B, IFNGR2	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)	Immunodeficiency 28 +2 more	GBenign
Select item 1170170	NM_005534.4(IFNGR2):c.879+32dup	IFNGR2, TMEM50B	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 1072704	NC_000021.8:g.(?_34540717)_(35013574_?)del	CRYZL1, IL10RB +8 more	Deletion	not provided	GPathogenic
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 1035906	NC_000021.8:g.(?_32439271)_(37133458_?)dup	IFNGR2, IL10RB +33 more	Duplication	Developmental and epileptic encephalopathy, 53 +1 more	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 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 980231	GRCh37/hg19 21q22.11(chr21:34379096-35572731)x1	ATP5PO, CRYZL1 +14 more	Copy number loss	not provided	GPathogenic
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 872829	GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022)	CFAP298, ATP5PO +28 more	Copy number loss	21q22.11q22.12 microdeletion syndrome	GPathogenic
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=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
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 650195	NC_000021.8:g.(?_34799171)_(34809289_?)dup	IFNGR2, TMEM50B	Duplication	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 625736	GRCh37/hg19 21q22.11(chr21:32589903-35359935)	ATP5PO, C21orf62 +25 more	Copy number loss	not provided	GPathogenic
Select item 585231	GRCh37/hg19 21q22.11(chr21:34281910-35748170)x1	ATP5PO, CRYZL1 +16 more	Copy number loss	not provided	Gnot provided
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

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