3702[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 59473	GRCh38/hg38 5q33.3(chr5:156991620-157210423)x3	GARIN3, HAVCR1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 1170558	NC_000005.10:g.157180782C>T	ITK	Single nucleotide variant	Lymphoproliferative syndrome 1	GBenign
Select item 905614	NM_005546.4(ITK):c.-95A>G	ITK	Single nucleotide variant (5 prime UTR variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 352455	NM_005546.4(ITK):c.-32C>A	ITK	Single nucleotide variant (5 prime UTR variant)	Lymphoproliferative syndrome 1	GBenign
Select item 1078747	NM_005546.4(ITK):c.6C>T (p.Asn2=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1386742	NM_005546.4(ITK):c.10T>C (p.Phe4Leu)	ITK (F4L)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1658927	NM_005546.4(ITK):c.15C>T (p.Ile5=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1140512	NM_005546.4(ITK):c.24A>G (p.Glu8=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1403911	NM_005546.4(ITK):c.26A>G (p.Glu9Gly)	ITK (E9G)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1084872	NM_005546.4(ITK):c.33C>A (p.Leu11=)	ITK	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
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 1456681	NM_005546.4(ITK):c.49C>T (p.Gln17Ter)	ITK (Q17*)	Single nucleotide variant (nonsense)	Lymphoproliferative syndrome 1	GPathogenic
Select item 2067965	NM_005546.4(ITK):c.72G>A (p.Ser24=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 638898	NM_005546.4(ITK):c.82G>T (p.Val28Phe)	ITK (V28F)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
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 64372	NM_005546.4(ITK):c.86G>A (p.Arg29His)	ITK (R29H)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GPathogenic
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 1114001	NM_005546.4(ITK):c.87C>A (p.Arg29=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1042777	NM_005546.4(ITK):c.91T>C (p.Phe31Leu)	ITK (F31L)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
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 2878677	NM_005546.4(ITK):c.112C>T (p.Leu38=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 3064392	NM_005546.4(ITK):c.129del (p.Arg44fs)	ITK (R44fs)	Deletion (frameshift variant)	Lymphoproliferative syndrome 1	GLikely pathogenic
Select item 1500819	NM_005546.4(ITK):c.131G>A (p.Arg44His)	ITK (R44H)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 846918	NM_005546.4(ITK):c.134A>T (p.His45Leu)	ITK (H45L)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1928280	NM_005546.4(ITK):c.138+4T>C	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 905615	NM_005546.4(ITK):c.138+13T>C	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GConflicting classifications of pathogenicity
Select item 1588599	NM_005546.4(ITK):c.138+19_138+20dup	ITK	Duplication (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1233008	NM_005546.4(ITK):c.138+158T>A	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2797477	NM_005546.4(ITK):c.139-20A>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 352456	NM_005546.4(ITK):c.139-6C>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1360487	NM_005546.4(ITK):c.139-3C>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GUncertain significance
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 855763	NM_005546.4(ITK):c.141G>C (p.Lys47Asn)	ITK (K47N)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 906130	NM_005546.4(ITK):c.146G>A (p.Arg49His)	ITK (R49H)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 861656	NM_005546.4(ITK):c.149C>T (p.Thr50Met)	ITK (T50M)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1665299	NM_005546.4(ITK):c.150G>T (p.Thr50=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 352457	NM_005546.4(ITK):c.150G>A (p.Thr50=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GConflicting classifications of pathogenicity
Select item 2049588	NM_005546.4(ITK):c.159G>T (p.Gly53=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1974754	NM_005546.4(ITK):c.160T>A (p.Ser54Thr)	ITK (S54T)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 950030	NM_005546.4(ITK):c.164T>C (p.Ile55Thr)	ITK (I55T)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1152954	NM_005546.4(ITK):c.165T>C (p.Ile55=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
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 2910754	NM_005546.4(ITK):c.171C>T (p.Leu57=)	ITK	Single nucleotide variant (synonymous 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 1102779	NM_005546.4(ITK):c.174C>T (p.Ser58=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1059196	NM_005546.4(ITK):c.176G>A (p.Arg59Gln)	ITK (R59Q)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
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 1047133	NM_005546.4(ITK):c.194T>C (p.Ile65Thr)	ITK (I65T)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1081040	NM_005546.4(ITK):c.198G>A (p.Val66=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1008736	NM_005546.4(ITK):c.212G>A (p.Ser71Asn)	ITK (S71N)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 942255	NM_005546.4(ITK):c.212G>C (p.Ser71Thr)	ITK (S71T)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1908342	NM_005546.4(ITK):c.219A>G (p.Pro73=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2004689	NM_005546.4(ITK):c.228T>A (p.Tyr76Ter)	ITK (Y76*)	Single nucleotide variant (nonsense)	Lymphoproliferative syndrome 1	GPathogenic
Select item 729272	NM_005546.4(ITK):c.228T>C (p.Tyr76=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GBenign
Select item 352458	NM_005546.4(ITK):c.237G>A (p.Pro79=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GConflicting classifications of pathogenicity
Select item 861388	NM_005546.4(ITK):c.243+5G>A	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1113892	NM_005546.4(ITK):c.243+9A>C	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 2890086	NM_005546.4(ITK):c.243+16G>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1258100	NM_005546.4(ITK):c.243+316C>T	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1668556	NM_005546.4(ITK):c.244-17TG[4]	ITK	Microsatellite (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 352459	NM_005546.4(ITK):c.244-8G>A	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1 +1 more	GBenign/Likely 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 2198936	NM_005546.4(ITK):c.267A>G (p.Leu89=)	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 2803669	NM_005546.4(ITK):c.279T>C (p.Ala93=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1553415	NM_005546.4(ITK):c.282A>G (p.Pro94=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
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 1509448	NM_005546.4(ITK):c.286C>G (p.Arg96Gly)	ITK (R96G)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 840048	NM_005546.4(ITK):c.286C>T (p.Arg96Cys)	ITK (R96C)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 934494	NM_005546.4(ITK):c.287G>A (p.Arg96His)	ITK (R96H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 352460	NM_005546.4(ITK):c.287G>C (p.Arg96Pro)	ITK (R96P)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1 +1 more	GUncertain significance
Select item 998373	NM_005546.4(ITK):c.295C>T (p.Arg99Trp)	ITK (R99W)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1428561	NM_005546.4(ITK):c.296G>A (p.Arg99Gln)	ITK (R99Q)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1382169	NM_005546.4(ITK):c.302G>A (p.Arg101His)	ITK (R101H)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1438184	NM_005546.4(ITK):c.303C>G (p.Arg101=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1404585	NM_005546.4(ITK):c.307G>A (p.Val103Met)	ITK (V103M)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1 +1 more	GUncertain significance
Select item 1134463	NM_005546.4(ITK):c.315C>T (p.Ala105=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1044513	NM_005546.4(ITK):c.323A>G (p.Glu108Gly)	ITK (E108G)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1092924	NM_005546.4(ITK):c.325+10C>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 2628137	NM_005546.4(ITK):c.326-630dup	ITK	Duplication (intron variant)	not specified	GBenign
Select item 1267673	NM_005546.4(ITK):c.326-157G>A	ITK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1577802	NM_005546.4(ITK):c.326-17G>A	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1634346	NM_005546.4(ITK):c.326-9C>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 942730	NM_005546.4(ITK):c.329C>T (p.Thr110Met)	ITK (T110M)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1123249	NM_005546.4(ITK):c.330G>A (p.Thr110=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 1104149	NM_005546.4(ITK):c.339T>C (p.Asn113=)	ITK	Single nucleotide variant (synonymous 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 1362779	NM_005546.4(ITK):c.344G>A (p.Ser115Asn)	ITK (S115N)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 934760	NM_005546.4(ITK):c.356A>G (p.Lys119Arg)	ITK (K119R)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GLikely benign
Select item 934848	NM_005546.4(ITK):c.364C>A (p.Pro122Thr)	ITK (P122T)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2004774	NM_005546.4(ITK):c.370T>C (p.Phe124Leu)	ITK (F124L)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance
Select item 1010930	NM_005546.4(ITK):c.378G>A (p.Met126Ile)	ITK (M126I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2088804	NM_005546.4(ITK):c.380del (p.Asp127fs)	ITK (D127fs)	Deletion (frameshift variant)	Lymphoproliferative syndrome 1	GPathogenic
Select item 1001038	NM_005546.4(ITK):c.386A>G (p.Lys129Arg)	ITK (K129R)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1	GUncertain significance

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