ClinVar for MedGen (Select 1648327) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376702	NM_138576.4(BCL11B):c.1219C>T (p.Pro407Ser)	BCL11B (P335S +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GUncertain significance
Select item 3370483	NM_138576.4(BCL11B):c.2474dup (p.Cys826fs)	BCL11B (C754fs +3 more)	Duplication (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GLikely pathogenic
Select item 3254643	NM_138576.4(BCL11B):c.334C>G (p.Pro112Ala)	BCL11B (P111A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GUncertain significance
Select item 3234924	NM_138576.4(BCL11B):c.814G>C (p.Glu272Gln)	BCL11B (E200Q +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GUncertain significance
Select item 2663815	NM_138576.4(BCL11B):c.1852C>T (p.Gln618Ter)	BCL11B (Q546* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 2500080	NM_138576.4(BCL11B):c.992G>T (p.Ser331Ile)	BCL11B (S259I +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 49 +1 more	GUncertain significance
Select item 2497802	NM_138576.4(BCL11B):c.2108C>A (p.Pro703Gln)	BCL11B (P631Q +3 more)	Single nucleotide variant (missense variant)	Immunodeficiency 49 +2 more	GConflicting classifications of pathogenicity
Select item 2442366	NM_138576.4(BCL11B):c.1216_1219dup (p.Pro407fs)	BCL11B (P335fs +3 more)	Duplication (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 2089004	NM_138576.4(BCL11B):c.1996C>T (p.Pro666Ser)	BCL11B (P595S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1806467	NM_138576.4(BCL11B):c.1206del (p.Phe403fs)	BCL11B (F331fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GLikely pathogenic
Select item 1805973	NM_138576.4(BCL11B):c.1748C>T (p.Ala583Val)	BCL11B (A511V +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GUncertain significance
Select item 1804880	NM_138576.4(BCL11B):c.2443del (p.Arg815fs)	BCL11B (R743fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 1804030	NM_138576.4(BCL11B):c.2513A>G (p.Lys838Arg)	BCL11B (K766R +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GLikely pathogenic
Select item 1801832	NM_138576.4(BCL11B):c.2605del (p.Leu869fs)	BCL11B (L797fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 1712805	NM_138576.4(BCL11B):c.473C>T (p.Ala158Val)	BCL11B (A157V +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities +2 more	GConflicting classifications of pathogenicity
Select item 1703240	NM_138576.4(BCL11B):c.1535_1536del (p.Ala512fs)	BCL11B (A440fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GLikely pathogenic
Select item 1698986	NM_138576.4(BCL11B):c.182G>T (p.Cys61Phe)	BCL11B (C60F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GUncertain significance
Select item 1698957	NM_138576.4(BCL11B):c.1272_1278del (p.Lys425fs)	BCL11B (K353fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 1568539	NM_138576.4(BCL11B):c.1521C>T (p.Gly507=)	BCL11B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1418910	NM_138576.4(BCL11B):c.1130C>T (p.Pro377Leu)	BCL11B (P305L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342021	NM_138576.4(BCL11B):c.1662_1668del (p.Ser555fs)	BCL11B (S483fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 1328527	NM_138576.4(BCL11B):c.1679C>T (p.Ser560Leu)	BCL11B (S488L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1292051	NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs)	BCL11B (E749fs +3 more)	Duplication (frameshift variant)	Immunodeficiency 49 +1 more	GPathogenic
Select item 1292046	NM_138576.4(BCL11B):c.427+1G>A	BCL11B	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 1184138	NM_138576.4(BCL11B):c.2346_2361del (p.Gly783fs)	BCL11B (G711fs +3 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1177353	NM_138576.4(BCL11B):c.2448_2461del (p.Ser817fs)	BCL11B (S745fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GLikely pathogenic
Select item 1177352	NM_138576.4(BCL11B):c.2439_2452dup (p.His818fs)	BCL11B (H746fs +3 more)	Duplication (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 1177351	NM_138576.4(BCL11B):c.1582del (p.His528fs)	BCL11B (H456fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GLikely pathogenic
Select item 1177342	NM_138576.4(BCL11B):c.211del (p.Leu71fs)	BCL11B (L70fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 1164020	NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn)	BCL11B (S764N +3 more)	Single nucleotide variant (missense variant)	BCL11B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1120212	NM_138576.4(BCL11B):c.2222C>T (p.Ser741Phe)	BCL11B (S669F +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GUncertain significance
Select item 1029134	NM_138576.4(BCL11B):c.785G>A (p.Arg262Gln)	BCL11B (R262Q +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 995958	NM_138576.4(BCL11B):c.2435_2436insAA (p.Val813fs)	BCL11B (V741fs +3 more)	Insertion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 988777	NM_138576.4(BCL11B):c.682C>T (p.Gln228Ter)	BCL11B (Q156* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 976734	NM_138576.4(BCL11B):c.1742del (p.Gly581fs)	BCL11B (G509fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GLikely pathogenic
Select item 976002	NM_138576.4(BCL11B):c.1770_1771del (p.Lys591fs)	BCL11B (K519fs +3 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 930916	NM_138576.4(BCL11B):c.1657G>C (p.Glu553Gln)	BCL11B (E552Q +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities +1 more	GUncertain significance
Select item 870217	NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs)	BCL11B (G577fs +3 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 807550	NM_138576.4(BCL11B):c.1500dup (p.Gly501fs)	BCL11B (G429fs +3 more)	Duplication (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 807549	NM_138576.4(BCL11B):c.2048del (p.Ser683fs)	BCL11B (S612fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 560178	NM_138576.4(BCL11B):c.1495G>T (p.Glu499Ter)	BCL11B (E499* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 560177	NM_138576.4(BCL11B):c.242del (p.Cys81fs)	BCL11B (C81fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 560176	NM_138576.4(BCL11B):c.2671del (p.Ala891fs)	BCL11B (A820fs +3 more)	Deletion (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 560175	NM_138576.4(BCL11B):c.2449_2456dup (p.Gly820fs)	BCL11B (G820fs +3 more)	Duplication (frameshift variant)	Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities	GPathogenic
Select item 560174	NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)	BCL11B (N807K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 45