5440[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 1232698	NM_005534.3(IFNGR2):c.-416A>C	IFNGR2, LOC119266102	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1289403	NM_005534.3(IFNGR2):c.-406T>C	IFNGR2, LOC119266102	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1277058	NM_005534.4(IFNGR2):c.-129T>C	LOC119266102, IFNGR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1066015	NM_005534.4(IFNGR2):c.1A>C (p.Met1Leu)	IFNGR2, LOC119266102 (M1L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 28	GLikely pathogenic
Select item 987732	NM_005534.4(IFNGR2):c.1A>G (p.Met1Val)	IFNGR2, LOC119266102 (M1V)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 28	GPathogenic
Select item 987750	NM_005534.4(IFNGR2):c.4del (p.Arg2fs)	IFNGR2, LOC119266102 (R2fs)	Deletion (frameshift variant)	Immunodeficiency 28	GPathogenic
Select item 1496111	NM_005534.4(IFNGR2):c.8C>G (p.Pro3Arg)	IFNGR2, LOC119266102 (P3R)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1665085	NM_005534.4(IFNGR2):c.9G>A (p.Pro3=)	IFNGR2, LOC119266102	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1104723	NM_005534.4(IFNGR2):c.9G>C (p.Pro3=)	IFNGR2, LOC119266102	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1983768	NM_005534.4(IFNGR2):c.19_36dup (p.Leu12_Leu13insTrpSerLeuLeuLeuLeu)	IFNGR2, LOC119266102	Duplication (inframe_insertion)	Immunodeficiency 28	GUncertain significance
Select item 2845758	NM_005534.4(IFNGR2):c.13C>T (p.Leu5=)	IFNGR2, LOC119266102	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1645913	NM_005534.4(IFNGR2):c.16C>T (p.Leu6=)	IFNGR2, LOC119266102	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 2131406	NM_005534.4(IFNGR2):c.19T>C (p.Trp7Arg)	IFNGR2, LOC119266102 (W7R)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 952636	NM_005534.4(IFNGR2):c.20_31dup (p.Leu10_Leu11insArgSerLeuLeu)	IFNGR2, LOC119266102	Duplication (inframe_insertion)	Immunodeficiency 28	GUncertain significance
Select item 1368211	NM_005534.4(IFNGR2):c.24GCT[6] (p.Leu13dup)	IFNGR2, LOC119266102	Microsatellite (inframe_insertion)	Immunodeficiency 28	GUncertain significance
Select item 474968	NM_005534.4(IFNGR2):c.37C>T (p.Leu13Phe)	IFNGR2, LOC119266102 (L13F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1540221	NM_005534.4(IFNGR2):c.45C>G (p.Val15=)	IFNGR2, LOC119266102	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 2195721	NM_005534.4(IFNGR2):c.48CGC[7] (p.Ala22_Pro23insAlaAla)	IFNGR2, LOC119266102	Microsatellite (inframe_insertion)	Immunodeficiency 28	GUncertain significance
Select item 939013	NM_005534.4(IFNGR2):c.48CGC[6] (p.Ala22dup)	IFNGR2, LOC119266102	Microsatellite (inframe_insertion)	Immunodeficiency 28	GUncertain significance
Select item 3350397	NM_005534.4(IFNGR2):c.48CGC[4] (p.Ala22del)	IFNGR2, LOC119266102 (A22del)	Microsatellite (inframe_deletion +1 more)	IFNGR2-related disorder	GLikely benign
Select item 2115736	NM_005534.4(IFNGR2):c.48C>T (p.Phe16=)	IFNGR2, LOC119266102	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1396547	NM_005534.4(IFNGR2):c.48CGC[2] (p.Ala20_Ala22del)	IFNGR2, LOC119266102	Microsatellite (inframe_deletion)	Immunodeficiency 28	GUncertain significance
Select item 1000970	NM_005534.4(IFNGR2):c.48CGC[3] (p.Ala21_Ala22del)	IFNGR2, LOC119266102	Microsatellite (inframe_deletion)	Immunodeficiency 28	GUncertain significance
Select item 541801	NM_005534.4(IFNGR2):c.48CGC[1] (p.Ala19_Ala22del)	IFNGR2, LOC119266102	Microsatellite (inframe_deletion)	Immunodeficiency 28	GUncertain significance
Select item 749656	NM_005534.4(IFNGR2):c.51C>T (p.Ala17=)	IFNGR2, LOC119266102	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 863856	NM_005534.4(IFNGR2):c.53C>T (p.Ala18Val)	IFNGR2, LOC119266102 (A18V)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 666003	NM_005534.4(IFNGR2):c.56C>T (p.Ala19Val)	IFNGR2, LOC119266102 (A19V)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 582069	NM_005534.4(IFNGR2):c.58G>A (p.Ala20Thr)	IFNGR2, LOC119266102 (A20T)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 474969	NM_005534.4(IFNGR2):c.65C>T (p.Ala22Val)	LOC119266102, IFNGR2 (A22V)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 2242362	NM_005534.4(IFNGR2):c.67C>G (p.Pro23Ala)	IFNGR2, LOC119266102 (P23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2068974	NM_005534.4(IFNGR2):c.73+7C>T	IFNGR2, LOC119266102	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 2817407	NM_005534.4(IFNGR2):c.73+10del	IFNGR2, LOC119266102	Deletion (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1572986	NM_005534.4(IFNGR2):c.73+8G>A	IFNGR2, LOC119266102	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1105965	NM_005534.4(IFNGR2):c.73+8G>T	IFNGR2, LOC119266102	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 2692832	NM_005534.4(IFNGR2):c.73+9G>C	IFNGR2, LOC119266102	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1151433	NM_005534.4(IFNGR2):c.73+10G>T	IFNGR2, LOC119266102	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1165446	NM_005534.4(IFNGR2):c.73+16G>A	IFNGR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1295288	NM_005534.4(IFNGR2):c.73+230T>G	IFNGR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 111256	NM_005534.4(IFNGR2):c.74-3937C>T	IFNGR2	Single nucleotide variant (intron variant +1 more)	not provided	Gnot provided
Select item 111255	NM_005534.4(IFNGR2):c.74-3672C>T	IFNGR2	Single nucleotide variant (intron variant +1 more)	not provided	Gnot provided
Select item 2100609	NM_005534.4(IFNGR2):c.74-6dup	IFNGR2	Duplication (intron variant +2 more)	Immunodeficiency 28	GBenign
Select item 1628264	NM_005534.4(IFNGR2):c.74-7C>T	IFNGR2	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 28	GLikely benign
Select item 1089463	NM_005534.4(IFNGR2):c.74-6C>T	IFNGR2	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1510582	NM_005534.4(IFNGR2):c.80T>C (p.Leu27Pro)	IFNGR2 (L46P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 943609	NM_005534.4(IFNGR2):c.83C>T (p.Ser28Phe)	IFNGR2 (S28F +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1587630	NM_005534.4(IFNGR2):c.90G>A (p.Leu30=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1483907	NM_005534.4(IFNGR2):c.91C>T (p.Pro31Ser)	IFNGR2 (P31S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1507225	NM_005534.4(IFNGR2):c.94G>A (p.Ala32Thr)	IFNGR2 (A32T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 2322471	NM_005534.4(IFNGR2):c.100C>G (p.Gln34Glu)	IFNGR2 (Q34E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 665306	NM_005534.4(IFNGR2):c.115C>T (p.Arg39Cys)	IFNGR2 (R58C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28 +1 more	GConflicting classifications of pathogenicity
Select item 1022655	NM_005534.4(IFNGR2):c.116G>A (p.Arg39His)	IFNGR2 (R39H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 724535	NM_005534.4(IFNGR2):c.126C>T (p.Asn42=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 3017769	NM_005534.4(IFNGR2):c.127G>A (p.Ala43Thr)	IFNGR2 (A43T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 2312374	NM_005534.4(IFNGR2):c.136G>A (p.Val46Ile)	IFNGR2 (V46I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1137203	NM_005534.4(IFNGR2):c.139C>T (p.Leu47=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1097800	NM_005534.4(IFNGR2):c.153A>T (p.Pro51=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1407596	NM_005534.4(IFNGR2):c.166A>G (p.Asn56Asp)	IFNGR2 (N75D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 36376	NM_005534.4(IFNGR2):c.173C>G (p.Thr58Arg)	IFNGR2 (T58R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28 +2 more	GBenign
Select item 762578	NM_005534.4(IFNGR2):c.174G>A (p.Thr58=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 2083629	NM_005534.4(IFNGR2):c.188A>G (p.Tyr63Cys)	IFNGR2 (Y82C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1169473	NM_005534.4(IFNGR2):c.191A>G (p.Gln64Arg)	IFNGR2 (Q64R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 541804	NM_005534.4(IFNGR2):c.206+8G>A	IFNGR2	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 2841909	NM_005534.4(IFNGR2):c.206+15_206+16del	IFNGR2	Deletion (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1395312	NM_005534.4(IFNGR2):c.206+20G>A	IFNGR2	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1285703	NM_005534.4(IFNGR2):c.206+311C>A	IFNGR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 111236	NM_005534.4(IFNGR2):c.207-636C>T	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 111235	NM_005534.4(IFNGR2):c.207-407_207-406insATT	IFNGR2	Insertion (intron variant)	not provided	Gnot provided
Select item 111234	NM_005534.4(IFNGR2):c.207-223A>G	IFNGR2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1258755	NM_005534.4(IFNGR2):c.207-199A>G	IFNGR2	Single nucleotide variant (intron variant)	not provided	GBenign

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