ClinVar for MedGen (Select 346666) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 147

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3017378	NM_198053.3(CD247):c.162+15G>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 3015133	NM_198053.3(CD247):c.394-6_394-4del	CD247	Microsatellite (intron variant)	Immunodeficiency 25	GLikely benign
Select item 3010713	NM_198053.3(CD247):c.447C>T (p.Thr149=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 3009080	NM_198053.3(CD247):c.58+20G>C	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 3001144	NM_198053.3(CD247):c.337-11C>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2973985	NM_198053.3(CD247):c.163-13T>C	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2902914	NM_198053.3(CD247):c.15G>T (p.Ala5=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 2892432	NM_198053.3(CD247):c.6G>A (p.Lys2=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 2884483	NM_198053.3(CD247):c.162+7A>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2845215	NM_198053.3(CD247):c.348A>G (p.Lys116=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 2840093	NM_198053.3(CD247):c.309G>A (p.Arg103=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 2837523	NM_198053.3(CD247):c.337-4G>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2783835	NM_198053.3(CD247):c.390C>T (p.Gly130=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GUncertain significance
Select item 2757304	NM_198053.3(CD247):c.59-6G>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2730319	NM_198053.3(CD247):c.24C>T (p.Thr8=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 2701235	NM_198053.3(CD247):c.337-18C>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2696644	NM_198053.3(CD247):c.300+11C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2427631	NC_000001.10:g.(?_167400918)_(168282240_?)dup	ADCY10, CD247 +9 more	Duplication	Immunodeficiency 25	GUncertain significance
Select item 2427630	NC_000001.10:g.(?_167400918)_(167410024_?)dup	CD247	Duplication	Immunodeficiency 25	GUncertain significance
Select item 2427629	NC_000001.10:g.(?_167487625)_(167487702_?)del	CD247	Deletion	Immunodeficiency 25	GPathogenic
Select item 2196646	NM_198053.3(CD247):c.488C>G (p.Pro163Arg)	CD247 (P163R +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 2167681	NM_198053.3(CD247):c.182C>T (p.Ala61Val)	CD247 (A61V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 2164056	NM_198053.3(CD247):c.162+15G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2164051	NM_198053.3(CD247):c.337-5T>C	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2162606	NM_198053.3(CD247):c.151C>T (p.Leu51=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 2160781	NM_198053.3(CD247):c.219+10C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2153072	NM_198053.3(CD247):c.429+15C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2120320	NM_198053.3(CD247):c.401G>A (p.Arg134Lys)	CD247 (R164K +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 2115357	NM_198053.3(CD247):c.430-6C>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GUncertain significance
Select item 2112523	NM_198053.3(CD247):c.394-19T>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GUncertain significance
Select item 2105314	NM_198053.3(CD247):c.300+13C>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2104434	NM_198053.3(CD247):c.417T>C (p.Asp139=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 2094859	NM_198053.3(CD247):c.191A>G (p.Tyr64Cys)	CD247 (Y64C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 2085064	NM_198053.3(CD247):c.58+6G>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GUncertain significance
Select item 2082521	NM_198053.3(CD247):c.430-12C>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2078653	NM_198053.3(CD247):c.51G>A (p.Pro17=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 2070856	NM_198053.3(CD247):c.206A>C (p.Asn69Thr)	CD247 (N69T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 2066425	NM_198053.3(CD247):c.301-20C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 2061545	NM_198053.3(CD247):c.395G>A (p.Arg132His)	CD247 (R132H +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 2013577	NM_198053.3(CD247):c.222G>A (p.Glu74=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1990728	NM_198053.3(CD247):c.328C>T (p.Leu110=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1976780	NM_198053.3(CD247):c.365C>G (p.Ala122Gly)	CD247 (A121G +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1966651	NM_198053.3(CD247):c.44A>T (p.Gln15Leu)	CD247 (Q15L)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1966588	NM_198053.3(CD247):c.381G>T (p.Gly127=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1964649	NM_198053.3(CD247):c.45G>C (p.Gln15His)	CD247 (Q15H)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1958146	NM_198053.3(CD247):c.291G>A (p.Gly97=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1947257	NM_198053.3(CD247):c.394-19T>C	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1944212	NM_198053.3(CD247):c.429+13G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1935351	NM_198053.3(CD247):c.25G>A (p.Ala9Thr)	CD247 (A9T)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1927347	NM_198053.3(CD247):c.308G>A (p.Arg103Lys)	CD247 (R133K +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25 +1 more	GUncertain significance
Select item 1633467	NM_198053.3(CD247):c.337-14G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1617310	NM_198053.3(CD247):c.219+13C>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1616752	NM_198053.3(CD247):c.429+16G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1615348	NM_198053.3(CD247):c.219+9G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1606797	NM_198053.3(CD247):c.429+12C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1605344	NM_198053.3(CD247):c.345G>A (p.Gln115=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1600956	NM_198053.3(CD247):c.430-18G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GBenign
Select item 1598416	NM_198053.3(CD247):c.58+11C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1589228	NM_198053.3(CD247):c.444C>T (p.Ala148=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1586717	NM_198053.3(CD247):c.301-15C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1584592	NM_198053.3(CD247):c.394-10A>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1582179	NM_198053.3(CD247):c.220-20C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1550889	NM_198053.3(CD247):c.337-15C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1546664	NM_198053.3(CD247):c.219+16C>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1545926	NM_198053.3(CD247):c.58+12G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1540888	NM_198053.3(CD247):c.429+19C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1516957	NM_198053.3(CD247):c.251A>C (p.Asp84Ala)	CD247 (D84A +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1484636	NM_198053.3(CD247):c.175G>A (p.Ala59Thr)	CD247 (A59T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1468834	NM_198053.3(CD247):c.269G>A (p.Arg90His)	CD247 (R121H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1463121	NM_198053.3(CD247):c.58+17G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1447805	NM_198053.3(CD247):c.28G>T (p.Ala10Ser)	CD247 (A10S)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1440885	NM_198053.3(CD247):c.26C>T (p.Ala9Val)	CD247 (A9V)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1428563	NM_198053.3(CD247):c.155G>A (p.Arg52Lys)	CD247 (R83K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1416361	NM_198053.3(CD247):c.289G>A (p.Gly97Arg)	CD247 (G97R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1394874	NM_198053.3(CD247):c.167G>T (p.Ser56Ile)	CD247 (S56I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1385849	NM_198053.3(CD247):c.250G>A (p.Asp84Asn)	CD247 (D115N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1367517	NM_198053.3(CD247):c.235C>T (p.Arg79Ter)	CD247 (R110* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency 25	GPathogenic
Select item 1364326	NM_198053.3(CD247):c.253G>A (p.Val85Ile)	CD247 (V85I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1192703	NM_198053.3(CD247):c.300+121A>G	CD247	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1170137	NM_198053.3(CD247):c.486C>T (p.Pro162=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GBenign
Select item 1169301	NM_198053.3(CD247):c.301-14G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GBenign
Select item 1166019	NM_198053.3(CD247):c.219+16C>A	CD247	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1130102	NM_198053.3(CD247):c.430-5G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1121431	NM_198053.3(CD247):c.58+9G>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1115496	NM_198053.3(CD247):c.336+20C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1111477	NM_198053.3(CD247):c.58+11C>A	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1105601	NM_198053.3(CD247):c.219+13C>T	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GLikely benign
Select item 1093434	NM_198053.3(CD247):c.76C>T (p.Leu26=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GLikely benign
Select item 1064382	NC_000001.10:g.(?_167400898)_(167487722_?)dup	CD247	Duplication	Immunodeficiency 25	GUncertain significance
Select item 1064375	NM_198053.3(CD247):c.350A>G (p.Asp117Gly)	CD247 (D116G +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1057409	NM_198053.3(CD247):c.397C>T (p.Arg133Trp)	CD247 (R132W +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1055965	NM_198053.3(CD247):c.227A>G (p.Asn76Ser)	CD247 (N107S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25 +1 more	GUncertain significance
Select item 1040612	NM_198053.3(CD247):c.274C>T (p.Arg92Trp)	CD247 (R92W +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1038153	NM_198053.3(CD247):c.250G>T (p.Asp84Tyr)	CD247 (D84Y +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 1035756	NM_198053.3(CD247):c.310A>G (p.Lys104Glu)	CD247 (K103E +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25 +1 more	GUncertain significance
Select item 1025806	NM_198053.3(CD247):c.220-3T>C	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GUncertain significance
Select item 1005445	NM_198053.3(CD247):c.148T>C (p.Phe50Leu)	CD247 (F50L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 992558	NM_198053.3(CD247):c.398G>A (p.Arg133Gln)	CD247 (R132Q +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 25	GUncertain significance
Select item 953720	NM_198053.3(CD247):c.300+3A>G	CD247	Single nucleotide variant (intron variant)	Immunodeficiency 25	GUncertain significance
Select item 952188	NM_198053.3(CD247):c.300G>A (p.Pro100=)	CD247	Single nucleotide variant (synonymous variant)	Immunodeficiency 25	GUncertain significance

<< First< Prev

Page of 2