1280[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 151383	GRCh38/hg38 21q22.11(chr21:33361172-34048047)x1	ATP5PO, CRYZL1 +41 more	Copy number loss	See cases	GLikely pathogenic
Select item 650195	NC_000021.8:g.(?_34799171)_(34809289_?)dup	IFNGR2, TMEM50B	Duplication	Immunodeficiency 28	GUncertain significance
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 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 1268638	NM_005534.4(IFNGR2):c.722-55T>C	IFNGR2, TMEM50B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
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 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 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 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 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 717050	NM_005534.4(IFNGR2):c.756C>T (p.Ser252=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 28 +1 more	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2103308	NM_005534.4(IFNGR2):c.811C>T (p.Leu271=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	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)	Immunodeficiency 28 +1 more	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 2916243	NM_005534.4(IFNGR2):c.849T>C (p.Thr283=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous 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 840030	NM_005534.4(IFNGR2):c.879+4C>T	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	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 1590379	NM_005534.4(IFNGR2):c.879+15A>G	IFNGR2, TMEM50B	Single nucleotide variant (intron 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 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 1551289	NM_005534.4(IFNGR2):c.879+17C>A	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1165142	NM_005534.4(IFNGR2):c.879+18dup	IFNGR2, TMEM50B	Duplication (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 1627742	NM_005534.4(IFNGR2):c.879+31_879+32dup	IFNGR2, TMEM50B	Duplication (intron variant)	Immunodeficiency 28	GBenign
Select item 1170207	NM_005534.4(IFNGR2):c.879+19C>T	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1170170	NM_005534.4(IFNGR2):c.879+32dup	IFNGR2, TMEM50B	Duplication (intron variant)	not specified +1 more	GBenign
Select item 36377	NM_005534.4(IFNGR2):c.879+19del	IFNGR2, TMEM50B	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1600515	NM_005534.4(IFNGR2):c.879+32del	IFNGR2, TMEM50B	Deletion (intron variant)	Immunodeficiency 28	GBenign
Select item 111258	NM_005534.4(IFNGR2):c.880-135_880-113dup	IFNGR2, TMEM50B	Duplication (intron variant)	not provided	Gnot provided
Select item 1276407	NM_005534.4(IFNGR2):c.880-87dup	IFNGR2, TMEM50B	Duplication (intron variant)	not provided	GBenign
Select item 1266737	NM_005534.4(IFNGR2):c.880-86T>A	IFNGR2, TMEM50B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 111259	NM_005534.4(IFNGR2):c.889G>A (p.Asp297Asn)	IFNGR2, TMEM50B (D297N +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 662505	NM_005534.4(IFNGR2):c.914C>T (p.Ala305Val)	TMEM50B, IFNGR2 (A305V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	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 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 1496482	NM_005534.4(IFNGR2):c.934C>T (p.Pro312Ser)	IFNGR2, TMEM50B (P312S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
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 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 916343	NM_005534.4(IFNGR2):c.945C>T (p.Asp315=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	Immunodeficiency 28 +1 more	GLikely benign
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 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 1121682	NM_005534.4(IFNGR2):c.957T>C (p.Ser319=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
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 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 2173243	NM_005534.4(IFNGR2):c.972G>A (p.Ser324=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 960830	NM_005534.4(IFNGR2):c.977C>T (p.Pro326Leu)	TMEM50B, IFNGR2 (P326L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 474971	NM_005534.4(IFNGR2):c.978G>A (p.Pro326=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 111260	NM_005534.4(IFNGR2):c.984G>A (p.Lys328=)	IFNGR2, TMEM50B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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