ClinVar for Gene (Select 3702) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367065	NM_005546.4(ITK):c.1449+4T>C	ITK	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3337185	NM_005546.4(ITK):c.530T>C (p.Ile177Thr)	ITK (I177T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3286944	NM_005546.4(ITK):c.1651G>C (p.Val551Leu)	ITK (V551L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286943	NM_005546.4(ITK):c.1162G>A (p.Val388Met)	ITK (V388M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257570	NM_005546.4(ITK):c.929_930delinsT (p.Lys310fs)	ITK (K310fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 3251232	NM_005546.4(ITK):c.929del (p.Lys310fs)	ITK (K310fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3111652	NM_005546.4(ITK):c.727A>T (p.Ser243Cys)	ITK (S243C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111651	NM_005546.4(ITK):c.1544C>A (p.Ser515Tyr)	ITK (S515Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111650	NM_005546.4(ITK):c.1070T>G (p.Val357Gly)	ITK (V357G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064392	NM_005546.4(ITK):c.129del (p.Arg44fs)	ITK (R44fs)	Deletion (frameshift variant)	Lymphoproliferative syndrome 1	GLikely pathogenic
Select item 3039689	NM_005546.4(ITK):c.1061-19CT[6]	ITK	Microsatellite (intron variant)	ITK-related disorder	GLikely benign
Select item 3029882	NM_005546.4(ITK):c.714-9T>C	ITK	Single nucleotide variant (intron variant)	ITK-related disorder	GLikely benign
Select item 3016758	NM_005546.4(ITK):c.1133A>G (p.His378Arg)	ITK (H378R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3015991	NM_005546.4(ITK):c.495+13G>A	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 3015962	NM_005546.4(ITK):c.243+14del	ITK	Deletion (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 3001107	NM_005546.4(ITK):c.1729T>C (p.Leu577=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2991628	NM_005546.4(ITK):c.769-19T>C	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2976837	NM_005546.4(ITK):c.1695A>C (p.Ser565=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2974750	NM_005546.4(ITK):c.414G>A (p.Lys138=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2969279	NM_005546.4(ITK):c.1449+16G>C	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2910754	NM_005546.4(ITK):c.171C>T (p.Leu57=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2902679	NM_005546.4(ITK):c.249G>A (p.Val83=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2899419	NM_005546.4(ITK):c.1061-19CT[8]	ITK	Microsatellite (intron variant)	Lymphoproliferative syndrome 1	GBenign
Select item 2890086	NM_005546.4(ITK):c.243+16G>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2882008	NM_005546.4(ITK):c.1450-9C>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2881009	NM_005546.4(ITK):c.1233-16T>C	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2879834	NM_005546.4(ITK):c.1219G>T (p.Ala407Ser)	ITK (A407S)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2878677	NM_005546.4(ITK):c.112C>T (p.Leu38=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2860481	NM_005546.4(ITK):c.139-2A>G	ITK	Single nucleotide variant (splice acceptor variant)	Lymphoproliferative syndrome 1	GLikely pathogenic
Select item 2858801	NM_005546.4(ITK):c.609T>C (p.Ser203=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2851840	NM_005546.4(ITK):c.601C>T (p.Leu201=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2849202	NM_005546.4(ITK):c.1850A>C (p.Glu617Ala)	ITK (E617A)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2835722	NM_005546.4(ITK):c.714-13T>C	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2827840	NM_005546.4(ITK):c.1554C>T (p.Thr518=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2826319	NM_005546.4(ITK):c.1048G>A (p.Gly350Arg)	ITK (G350R)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2819448	NM_005546.4(ITK):c.168G>A (p.Glu56=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2803811	NM_005546.4(ITK):c.189T>G (p.Val63=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2803669	NM_005546.4(ITK):c.279T>C (p.Ala93=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2801804	NM_005546.4(ITK):c.985+19G>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2801757	NM_005546.4(ITK):c.423A>G (p.Thr141=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2797477	NM_005546.4(ITK):c.139-20A>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2787023	NM_005546.4(ITK):c.1791+9A>G	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2783262	NM_005546.4(ITK):c.1768A>C (p.Ile590Leu)	ITK (I590L)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2782427	NM_005546.4(ITK):c.633C>A (p.Val211=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2780898	NM_005546.4(ITK):c.49C>A (p.Gln17Lys)	ITK (Q17K)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2768453	NM_005546.4(ITK):c.1363G>C (p.Ala455Pro)	ITK (A455P)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2768069	NM_005546.4(ITK):c.851+14T>C	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2766067	NM_005546.4(ITK):c.1515-18C>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2751764	NM_005546.4(ITK):c.454+19C>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2750136	NM_005546.4(ITK):c.389G>A (p.Trp130Ter)	ITK (W130*)	Single nucleotide variant (nonsense)	Lymphoproliferative syndrome 1	GPathogenic
Select item 2746557	NM_005546.4(ITK):c.1514+13T>A	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2736044	NM_005546.4(ITK):c.844G>C (p.Val282Leu)	ITK (V282L)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2727526	NM_005546.4(ITK):c.399T>C (p.Cys133=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2726651	NM_005546.4(ITK):c.858C>T (p.Asn286=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2726520	NM_005546.4(ITK):c.276T>C (p.Phe92=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2726271	NM_005546.4(ITK):c.681G>A (p.Val227=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2716650	NM_005546.4(ITK):c.1131G>A (p.Val377=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2711258	NM_005546.4(ITK):c.495+20C>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2704549	NM_005546.4(ITK):c.714-5T>C	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2701614	NM_005546.4(ITK):c.244-8G>C	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2655991	NM_005546.4(ITK):c.171C>G (p.Leu57=)	ITK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634589	NM_005546.4(ITK):c.1061G>A (p.Gly354Glu)	ITK (G354E)	Single nucleotide variant (missense variant)	ITK-related disorder	GUncertain significance
Select item 2631535	NM_005546.4(ITK):c.1061-1G>A	ITK	Single nucleotide variant (splice acceptor variant)	ITK-related disorder	GUncertain significance
Select item 2628137	NM_005546.4(ITK):c.326-630dup	ITK	Duplication (intron variant)	not specified	GBenign
Select item 2619351	NM_005546.4(ITK):c.695A>G (p.Asn232Ser)	ITK (N232S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533552	NM_005546.4(ITK):c.286C>A (p.Arg96Ser)	ITK (R96S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469289	NM_005546.4(ITK):c.1019T>C (p.Phe340Ser)	ITK (F340S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2443153	NM_005546.4(ITK):c.1730T>G (p.Leu577Trp)	ITK (L577W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443151	NM_005546.4(ITK):c.1558T>C (p.Phe520Leu)	ITK (F520L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425365	NC_000005.9:g.(?_155338082)_(156899968_?)dup	CYFIP2, FNDC9 +8 more	Duplication	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2425364	NC_000005.9:g.(?_155338082)_(156899968_?)del	CYFIP2, FNDC9 +8 more	Deletion	Lymphoproliferative syndrome 1	GPathogenic
Select item 2417920	NM_005546.4(ITK):c.85C>T (p.Arg29Cys)	ITK (R29C)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2415848	NM_005546.4(ITK):c.495+17G>C	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2278452	NM_005546.4(ITK):c.1043C>T (p.Thr348Ile)	ITK (T348I)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1 +1 more	GUncertain significance
Select item 2246859	NM_005546.4(ITK):c.781G>A (p.Ala261Thr)	ITK (A261T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230468	NM_005546.4(ITK):c.858C>A (p.Asn286Lys)	ITK (N286K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202581	NM_005546.4(ITK):c.1791+11G>A	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2201280	NM_005546.4(ITK):c.1450-4C>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2198936	NM_005546.4(ITK):c.267A>G (p.Leu89=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2195496	NM_005546.4(ITK):c.1188G>T (p.Gly396=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2194061	NM_005546.4(ITK):c.1805G>T (p.Arg602Leu)	ITK (R602L)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2191669	NM_005546.4(ITK):c.1312A>T (p.Met438Leu)	ITK (M438L)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2185549	NM_005546.4(ITK):c.570C>T (p.Leu190=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2185450	NM_005546.4(ITK):c.99A>G (p.Leu33=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2181322	NM_005546.4(ITK):c.1447T>A (p.Leu483Met)	ITK (L483M)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2179503	NM_005546.4(ITK):c.647+10C>A	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2176588	NM_005546.4(ITK):c.340A>C (p.Asn114His)	ITK (N114H)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2169067	NM_005546.4(ITK):c.1449+14G>A	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2166181	NM_005546.4(ITK):c.868A>G (p.Ile290Val)	ITK (I290V)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2159315	NM_005546.4(ITK):c.87C>T (p.Arg29=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2148272	NM_005546.4(ITK):c.742A>T (p.Lys248Ter)	ITK (K248*)	Single nucleotide variant (nonsense)	Lymphoproliferative syndrome 1	GPathogenic
Select item 2147405	NM_005546.4(ITK):c.769-20A>G	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2139272	NM_005546.4(ITK):c.1059C>T (p.Tyr353=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2134098	NM_005546.4(ITK):c.631G>A (p.Val211Ile)	ITK (V211I)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2129928	NM_005546.4(ITK):c.713A>C (p.Glu238Ala)	ITK (E238A)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2128140	NM_005546.4(ITK):c.657A>G (p.Gly219=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2123917	NM_005546.4(ITK):c.487G>C (p.Asp163His)	ITK (D163H)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2120680	NM_005546.4(ITK):c.1412C>T (p.Ala471Val)	ITK (A471V)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2115907	NM_005546.4(ITK):c.1428A>G (p.Ala476=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2113047	NM_005546.4(ITK):c.583A>C (p.Asn195His)	ITK (N195H)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance

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