ClinVar for MedGen (Select 482544) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 1267

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065351	NM_002661.5(PLCG2):c.3679A>T (p.Asn1227Tyr)	PLCG2 (N1227Y)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3024025	NM_002661.5(PLCG2):c.1564C>T (p.Pro522Ser)	PLCG2 (P522S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3023289	NM_002661.5(PLCG2):c.496T>C (p.Leu166=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3022955	NM_002661.5(PLCG2):c.202A>G (p.Met68Val)	PLCG2 (M68V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3022063	NM_002661.5(PLCG2):c.2640G>T (p.Gln880His)	PLCG2 (Q880H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3020014	NM_002661.5(PLCG2):c.2208C>T (p.Thr736=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3019096	NM_002661.5(PLCG2):c.2514+16C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3018161	NM_002661.5(PLCG2):c.1734-19T>C	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3018003	NM_002661.5(PLCG2):c.3673A>G (p.Asn1225Asp)	PLCG2 (N1225D)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3017862	NM_002661.5(PLCG2):c.3169A>C (p.Arg1057=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3015996	NM_002661.5(PLCG2):c.2021G>A (p.Arg674Gln)	PLCG2 (R674Q)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3015640	NM_002661.5(PLCG2):c.1733+17A>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3015249	NM_002661.5(PLCG2):c.3327C>G (p.Leu1109=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3014904	NM_002661.5(PLCG2):c.291C>T (p.Thr97=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3014304	NM_002661.5(PLCG2):c.2433T>C (p.Tyr811=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3013698	NM_002661.5(PLCG2):c.107C>G (p.Ser36Cys)	PLCG2 (S36C)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3012775	NM_002661.5(PLCG2):c.2236-19T>C	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3010720	NM_002661.5(PLCG2):c.479+17T>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3010558	NM_002661.5(PLCG2):c.816C>T (p.Phe272=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3010131	NM_002661.5(PLCG2):c.312C>T (p.Phe104=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3010063	NM_002661.5(PLCG2):c.2025G>A (p.Glu675=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3009745	NM_002661.5(PLCG2):c.1785G>C (p.Gly595=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 3005311	NM_002661.5(PLCG2):c.1805C>G (p.Thr602Ser)	PLCG2 (T602S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3002911	NM_002661.5(PLCG2):c.3648G>C (p.Leu1216=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2998768	NM_002661.5(PLCG2):c.1362+20C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2997967	NM_002661.5(PLCG2):c.1328C>T (p.Ser443Leu)	PLCG2 (S443L)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2997956	NM_002661.5(PLCG2):c.3624A>G (p.Glu1208=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2997749	NM_002661.5(PLCG2):c.3695T>C (p.Val1232Ala)	PLCG2 (V1232A)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2996171	NM_002661.5(PLCG2):c.1727C>T (p.Ser576Phe)	PLCG2 (S576F)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2992050	NM_002661.5(PLCG2):c.1911C>T (p.Asn637=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2991717	NM_002661.5(PLCG2):c.2707A>G (p.Ile903Val)	PLCG2 (I903V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2991677	NM_002661.5(PLCG2):c.3571-5T>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2991060	NM_002661.5(PLCG2):c.3571-3C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2990243	NM_002661.5(PLCG2):c.1934+18G>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2986910	NM_002661.5(PLCG2):c.2896A>G (p.Ile966Val)	PLCG2 (I966V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2986183	NM_002661.5(PLCG2):c.2609A>G (p.Lys870Arg)	PLCG2 (K870R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2982739	NM_002661.5(PLCG2):c.1558-7G>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2982340	NM_002661.5(PLCG2):c.398C>G (p.Ala133Gly)	PLCG2 (A133G)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2981987	NM_002661.5(PLCG2):c.2409C>T (p.Pro803=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2981266	NM_002661.5(PLCG2):c.867+18G>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2977890	NM_002661.5(PLCG2):c.692+15G>C	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2977626	NM_002661.5(PLCG2):c.3388G>A (p.Ala1130Thr)	PLCG2 (A1130T)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2976143	NM_002661.5(PLCG2):c.2195G>A (p.Arg732His)	PLCG2 (R732H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2969566	NM_002661.5(PLCG2):c.3329G>A (p.Ser1110Asn)	PLCG2 (S1110N)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2969495	NM_002661.5(PLCG2):c.219C>G (p.Ile73Met)	PLCG2 (I73M)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2969183	NM_002661.5(PLCG2):c.2515-3C>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2966687	NM_002661.5(PLCG2):c.3553G>A (p.Glu1185Lys)	PLCG2 (E1185K)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2966337	NM_002661.5(PLCG2):c.2740-16A>C	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2964987	NM_002661.5(PLCG2):c.3476A>G (p.Lys1159Arg)	PLCG2 (K1159R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2961344	NM_002661.5(PLCG2):c.348A>T (p.Lys116Asn)	PLCG2 (K116N)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2960172	NM_002661.5(PLCG2):c.2217C>G (p.Leu739=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2958738	NM_002661.5(PLCG2):c.432-7T>C	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2956875	NM_002661.5(PLCG2):c.675G>C (p.Ser225=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2918874	NM_002661.5(PLCG2):c.2203G>A (p.Val735Met)	PLCG2 (V735M)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2917996	NM_002661.5(PLCG2):c.193+11G>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2915369	NM_002661.5(PLCG2):c.741G>C (p.Gln247His)	PLCG2 (Q247H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2915351	NM_002661.5(PLCG2):c.2061G>A (p.Arg687=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2915067	NM_002661.5(PLCG2):c.1479G>C (p.Arg493=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2914894	NM_002661.5(PLCG2):c.1193+2_1193+3insAACAGCCAAAGAAAATCAGCCAAATCAGCCAAAGAAAT	PLCG2	Insertion (splice donor variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2914636	NM_002661.5(PLCG2):c.1155C>T (p.Val385=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2914223	NM_002661.5(PLCG2):c.149G>A (p.Arg50Gln)	PLCG2 (R50Q)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2912865	NM_002661.5(PLCG2):c.692+10C>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2912426	NM_002661.5(PLCG2):c.2880G>A (p.Glu960=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2910975	NM_002661.5(PLCG2):c.1934+12A>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2907201	NM_002661.5(PLCG2):c.3052+13T>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2906974	NM_002661.5(PLCG2):c.1558-12T>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2906918	NM_002661.5(PLCG2):c.1723C>T (p.Leu575=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2902344	NM_002661.5(PLCG2):c.648G>A (p.Ser216=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2902331	NM_002661.5(PLCG2):c.3560G>A (p.Arg1187Gln)	PLCG2 (R1187Q)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2902011	NM_002661.5(PLCG2):c.2917G>A (p.Asp973Asn)	PLCG2 (D973N)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2898253	NM_002661.5(PLCG2):c.1641G>C (p.Leu547=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2897309	NM_002661.5(PLCG2):c.1017G>A (p.Glu339=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2895934	NM_002661.5(PLCG2):c.1860G>A (p.Thr620=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2895377	NM_002661.5(PLCG2):c.2358T>C (p.Asp786=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2894956	NM_002661.5(PLCG2):c.194-9T>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2889867	NM_002661.5(PLCG2):c.3202C>T (p.Leu1068Phe)	PLCG2 (L1068F)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2889818	NM_002661.5(PLCG2):c.2935C>T (p.Gln979Ter)	PLCG2 (Q979*)	Single nucleotide variant (nonsense)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2889530	NM_002661.5(PLCG2):c.1935-4G>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2887864	NM_002661.5(PLCG2):c.1392G>A (p.Val464=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2887355	NM_002661.5(PLCG2):c.796C>T (p.Arg266Cys)	PLCG2 (R266C)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2886954	NM_002661.5(PLCG2):c.3583G>A (p.Glu1195Lys)	PLCG2 (E1195K)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2886404	NM_002661.5(PLCG2):c.2650C>T (p.Pro884Ser)	PLCG2 (P884S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2886370	NM_002661.5(PLCG2):c.2842+8C>G	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2885865	NM_002661.5(PLCG2):c.1310G>T (p.Ser437Ile)	PLCG2 (S437I)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2884227	NM_002661.5(PLCG2):c.1468-8C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2883164	NM_002661.5(PLCG2):c.426C>T (p.Ile142=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2883163	NM_002661.5(PLCG2):c.735C>G (p.Asp245Glu)	PLCG2 (D245E)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2882084	NM_002661.5(PLCG2):c.3755+11C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2882077	NM_002661.5(PLCG2):c.2653C>T (p.Pro885Ser)	PLCG2 (P885S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2879183	NM_002661.5(PLCG2):c.3198+13C>T	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2875017	NM_002661.5(PLCG2):c.120G>C (p.Arg40=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2873920	NM_002661.5(PLCG2):c.1534A>T (p.Thr512Ser)	PLCG2 (T512S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2873385	NM_002661.5(PLCG2):c.168G>A (p.Lys56=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2867934	NM_002661.5(PLCG2):c.371C>A (p.Ser124Tyr)	PLCG2 (S124Y)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2866527	NM_002661.5(PLCG2):c.2668A>T (p.Thr890Ser)	PLCG2 (T890S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2862872	NM_002661.5(PLCG2):c.248A>G (p.Glu83Gly)	PLCG2 (E83G)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 2862367	NM_002661.5(PLCG2):c.75G>T (p.Gly25=)	PLCG2	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2859615	NM_002661.5(PLCG2):c.3570+17C>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2857964	NM_002661.5(PLCG2):c.2236-13T>A	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GLikely benign
Select item 2856218	NM_002661.5(PLCG2):c.431+6T>C	PLCG2	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 3	GUncertain significance

<< First< Prev

Page of 13