Related gene-specific medical variations for Gene (Select 4790) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068256	NM_003998.4(NFKB1):c.2240del (p.Leu747fs)	NFKB1 (L733fs +2 more)	Deletion (frameshift variant)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 3065330	NM_003998.4(NFKB1):c.1753-1G>T	NFKB1	Single nucleotide variant (splice acceptor variant)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 3021411	NM_003998.4(NFKB1):c.1746G>T (p.Leu582=)	LOC126807127, NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009601	NM_003998.4(NFKB1):c.1737A>G (p.Arg579=)	LOC126807127, NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854445	NM_003998.4(NFKB1):c.1685A>T (p.Asp562Val)	LOC126807127, NFKB1 (D548V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839176	NC_000004.12:g.102600894GT[1]	LOC126807127, NFKB1	Microsatellite (genic downstream transcript variant)	not provided	GPathogenic
Select item 2813405	NM_003998.4(NFKB1):c.1679dup (p.Arg561fs)	LOC126807127, NFKB1 (R560fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2715341	NM_003998.4(NFKB1):c.1743_1750dup (p.Gln584fs)	LOC126807127, NFKB1 (Q570fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2709690	NM_003998.4(NFKB1):c.1747T>C (p.Tyr583His)	LOC126807127, NFKB1 (Y569H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689578	NM_003998.4(NFKB1):c.2394T>G (p.Phe798Leu)	NFKB1 (F784L +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12	GUncertain significance
Select item 2576041	NM_003998.4(NFKB1):c.1A>G (p.Met1Val)	NFKB1 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2575185	NM_003998.4(NFKB1):c.802G>C (p.Glu268Gln)	NFKB1 (E254Q +2 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2575184	NM_003998.4(NFKB1):c.801_802insTCA (p.Glu267_Glu268insSer)	NFKB1	Insertion (inframe_insertion)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2020877	NM_003998.4(NFKB1):c.1734G>A (p.Met578Ile)	LOC126807127, NFKB1 (M578I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957497	NM_003998.4(NFKB1):c.1710G>T (p.Leu570Phe)	LOC126807127, NFKB1 (L570F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697314	NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del	NFKB1	Deletion	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 1656746	NM_003998.4(NFKB1):c.1746G>A (p.Leu582=)	LOC126807127, NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599046	NM_003998.4(NFKB1):c.1736G>A (p.Arg579Lys)	LOC126807127, NFKB1 (R565K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 12 +1 more	GConflicting classifications of pathogenicity
Select item 1569964	NM_003998.4(NFKB1):c.1674A>G (p.Gln558=)	LOC126807127, NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553591	NM_003998.4(NFKB1):c.1752+7A>G	LOC126807127, NFKB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1499498	NM_003998.4(NFKB1):c.1710G>C (p.Leu570Phe)	LOC126807127, NFKB1 (L556F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381715	NM_003998.4(NFKB1):c.1699A>G (p.Thr567Ala)	NFKB1, LOC126807127 (T566A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319140	NM_003998.4(NFKB1):c.215G>A (p.Gly72Asp)	NFKB1 (G58D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230905	NM_003998.4(NFKB1):c.1752+336_1752+339del	LOC126807127, NFKB1	Deletion (intron variant)	not provided	GBenign
Select item 1012500	NM_003998.4(NFKB1):c.1644A>G (p.Leu548=)	LOC126807127, NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809648	NM_003998.4(NFKB1):c.1400_1401dup (p.Gln468fs)	NFKB1 (Q468fs +2 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 734805	NM_003998.4(NFKB1):c.1654A>G (p.Ile552Val)	LOC126807127, NFKB1 (I551V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 722155	NM_003998.4(NFKB1):c.1700C>T (p.Thr567Ile)	LOC126807127, NFKB1 (T566I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 636876	NM_003998.4(NFKB1):c.425T>C (p.Ile142Thr)	NFKB1 (I142T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636470	NM_003998.4(NFKB1):c.500dup (p.Asn167fs)	NFKB1 (N166fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 636444	NM_003998.4(NFKB1):c.215G>T (p.Gly72Val)	NFKB1 (G72V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636403	NM_003998.4(NFKB1):c.1402C>T (p.Gln468Ter)	NFKB1 (Q468* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 623199	NM_003998.4(NFKB1):c.1752+1G>A	LOC126807127, NFKB1	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 546965	NM_003998.4(NFKB1):c.1743T>C (p.Asp581=)	LOC126807127, NFKB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Links from Gene

Items: 36