C4013947[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 665306	NM_005534.4(IFNGR2):c.115C>T (p.Arg39Cys)	IFNGR2 (R58C +1 more)	Single nucleotide variant (missense variant)	not provided +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 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 2719480	NM_005534.4(IFNGR2):c.207-18T>C	IFNGR2	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 2194191	NM_005534.4(IFNGR2):c.207-11T>C	IFNGR2	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1960101	NM_005534.4(IFNGR2):c.207-5C>G	IFNGR2	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 2902460	NM_005534.4(IFNGR2):c.210C>T (p.Thr70=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1365078	NM_005534.4(IFNGR2):c.227C>T (p.Thr76Met)	IFNGR2 (T95M +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 2054348	NM_005534.4(IFNGR2):c.228G>A (p.Thr76=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1607924	NM_005534.4(IFNGR2):c.231C>T (p.Ala77=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GBenign
Select item 1036762	NM_005534.4(IFNGR2):c.232G>A (p.Asp78Asn)	IFNGR2 (D97N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 541803	NM_005534.4(IFNGR2):c.234C>T (p.Asp78=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GBenign
Select item 1602357	NM_005534.4(IFNGR2):c.237C>T (p.Ile79=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1481464	NM_005534.4(IFNGR2):c.239T>C (p.Met80Thr)	IFNGR2 (M99T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 474967	NM_005534.4(IFNGR2):c.249G>A (p.Gly83=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28 +1 more	GLikely benign
Select item 1594862	NM_005534.4(IFNGR2):c.255T>C (p.Asn85=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 860027	NM_005534.4(IFNGR2):c.277G>C (p.Glu93Gln)	IFNGR2 (E112Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1951870	NM_005534.4(IFNGR2):c.279G>A (p.Glu93=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1147559	NM_005534.4(IFNGR2):c.285C>T (p.Asp95=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1583460	NM_005534.4(IFNGR2):c.294C>T (p.Ala98=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 2060329	NM_005534.4(IFNGR2):c.295G>A (p.Ala99Thr)	IFNGR2 (A99T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1442645	NM_005534.4(IFNGR2):c.298A>G (p.Ser100Gly)	IFNGR2 (S119G +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 576275	NM_005534.4(IFNGR2):c.308C>T (p.Ala103Val)	IFNGR2 (A103V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 725372	NM_005534.4(IFNGR2):c.312C>T (p.Gly104=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 941744	NM_005534.4(IFNGR2):c.319A>G (p.Met107Val)	IFNGR2 (M107V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 111238	NM_005534.4(IFNGR2):c.337C>T (p.Leu113=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1481513	NM_005534.4(IFNGR2):c.347G>A (p.Arg116Gln)	IFNGR2 (R116Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2972514	NM_005534.4(IFNGR2):c.360A>G (p.Gly120=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1471698	NM_005534.4(IFNGR2):c.361G>C (p.Ala121Pro)	IFNGR2 (A140P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 2088738	NM_005534.4(IFNGR2):c.374C>A (p.Ala125Asp)	IFNGR2 (A125D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1099826	NM_005534.4(IFNGR2):c.375C>T (p.Ala125=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 1002548	NM_005534.4(IFNGR2):c.406C>T (p.Arg136Trp)	IFNGR2 (R136W +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1037224	NM_005534.4(IFNGR2):c.407G>A (p.Arg136Gln)	IFNGR2 (R136Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 2886561	NM_005534.4(IFNGR2):c.412+10C>T	IFNGR2	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 650195	NC_000021.8:g.(?_34799171)_(34809289_?)dup	IFNGR2, TMEM50B	Duplication	Immunodeficiency 28	GUncertain significance
Select item 2044634	NM_005534.4(IFNGR2):c.413-18T>C	IFNGR2	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 2862716	NM_005534.4(IFNGR2):c.413-15G>C	IFNGR2	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 3013192	NM_005534.4(IFNGR2):c.413-9C>A	IFNGR2	Single nucleotide variant (intron variant)	Immunodeficiency 28	GLikely benign
Select item 1115478	NM_005534.4(IFNGR2):c.417T>G (p.Thr139=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 2883161	NM_005534.4(IFNGR2):c.420C>T (p.Val140=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 928893	NM_005534.4(IFNGR2):c.436A>G (p.Ile146Val)	IFNGR2 (I146V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28 +1 more	GUncertain significance
Select item 2194697	NM_005534.4(IFNGR2):c.437T>C (p.Ile146Thr)	IFNGR2 (I165T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1499375	NM_005534.4(IFNGR2):c.437T>A (p.Ile146Asn)	IFNGR2 (I165N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 718941	NM_005534.4(IFNGR2):c.439G>A (p.Glu147Lys)	IFNGR2 (E147K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GBenign
Select item 1328212	NM_005534.4(IFNGR2):c.442G>A (p.Val148Met)	IFNGR2 (V148M +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1008942	NM_005534.4(IFNGR2):c.451G>A (p.Gly151Arg)	IFNGR2 (G151R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1521676	NM_005534.4(IFNGR2):c.454G>C (p.Glu152Gln)	IFNGR2 (E152Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1491889	NM_005534.4(IFNGR2):c.463C>G (p.Leu155Val)	IFNGR2 (L155V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance
Select item 1078979	NM_005534.4(IFNGR2):c.465C>T (p.Leu155=)	IFNGR2	Single nucleotide variant (synonymous variant)	Immunodeficiency 28	GLikely benign
Select item 111246	NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu)	IFNGR2 (I156L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 27A +2 more	GBenign/Likely benign
Select item 1440523	NM_005534.4(IFNGR2):c.484C>T (p.Pro162Ser)	IFNGR2 (P162S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 28	GUncertain significance

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