ClinVar for MedGen (Select 934800) - ClinVar

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

Links from MedGen

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069151	NM_022893.4(BCL11A):c.1230C>A (p.Cys410Ter)	BCL11A (C179* +9 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 3024309	NM_022893.4(BCL11A):c.1417G>T (p.Glu473Ter)	BCL11A (E142* +9 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GPathogenic
Select item 2672192	NM_022893.4(BCL11A):c.791C>G (p.Pro264Arg)	BCL11A (P112R +6 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2664349	NM_022893.4(BCL11A):c.1442del (p.Glu481fs)	BCL11A (E150fs +8 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GPathogenic
Select item 2626885	NM_022893.4(BCL11A):c.875del (p.His292fs)	BCL11A (H140fs +5 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GPathogenic
Select item 2574572	NM_022893.4(BCL11A):c.557T>G (p.Leu186Trp)	BCL11A (L100W +6 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2573334	NM_022893.4(BCL11A):c.515G>C (p.Cys172Ser)	BCL11A (C120S +6 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2572238	NM_022893.4(BCL11A):c.176A>T (p.Asp59Val)	BCL11A (D59V +2 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 2570606	NM_022893.4(BCL11A):c.1486G>T (p.Glu496Ter)	BCL11A (E344* +9 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GPathogenic
Select item 2500886	NM_022893.4(BCL11A):c.1504G>T (p.Glu502Ter)	BCL11A (E171* +9 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 2499468	NM_001386298.1(CIC):c.6584G>A (p.Arg2195His)	CIC, PAFAH1B3 (R1286H +2 more)	Single nucleotide variant (missense variant)	Dias-Logan syndrome +1 more	GUncertain significance
Select item 2499467	NM_022893.4(BCL11A):c.1656C>T (p.Leu552=)	BCL11A	Single nucleotide variant (synonymous variant +1 more)	Dias-Logan syndrome +1 more	GUncertain significance
Select item 2439491	NM_022893.4(BCL11A):c.1625C>A (p.Ala542Asp)	BCL11A (A211D +9 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2439490	NM_022893.4(BCL11A):c.1727C>T (p.Ala576Val)	BCL11A (A245V +9 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2439489	NM_022893.4(BCL11A):c.1816G>A (p.Gly606Ser)	BCL11A (G275S +9 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 2439488	NM_022893.4(BCL11A):c.127C>T (p.His43Tyr)	BCL11A (H43Y +1 more)	Single nucleotide variant (missense variant)	Dias-Logan syndrome	GUncertain significance
Select item 2439487	NM_022893.4(BCL11A):c.134T>G (p.Leu45Arg)	BCL11A (L45R +1 more)	Single nucleotide variant (missense variant)	Dias-Logan syndrome	GUncertain significance
Select item 2439486	NM_022893.4(BCL11A):c.2188C>A (p.Pro730Thr)	BCL11A (P399T +9 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome +1 more	GUncertain significance
Select item 1805882	NM_022893.4(BCL11A):c.91C>G (p.Pro31Ala)	BCL11A (P31A +1 more)	Single nucleotide variant (missense variant)	Dias-Logan syndrome	GUncertain significance
Select item 1804885	NM_022893.4(BCL11A):c.1589G>T (p.Arg530Leu)	BCL11A (R199L +8 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 1804108	NM_022893.4(BCL11A):c.759_769del (p.Leu254fs)	BCL11A (L220fs +1 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GPathogenic
Select item 1709732	NM_001363864.1(BCL11A):c.2281-2A>C	BCL11A	Single nucleotide variant (splice acceptor variant)	Dias-Logan syndrome	GUncertain significance
Select item 1709212	NM_022893.4(BCL11A):c.184del (p.Ile62fs)	BCL11A (I62fs)	Deletion (frameshift variant)	Dias-Logan syndrome	GLikely pathogenic
Select item 1698869	NM_022893.4(BCL11A):c.1A>G (p.Met1Val)	BCL11A (M1V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay +1 more	GPathogenic/Likely pathogenic
Select item 1696473	NM_022893.4(BCL11A):c.1117C>T (p.Pro373Ser)	BCL11A (P339S +1 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 1687104	NM_022893.4(BCL11A):c.35T>G (p.Leu12Ter)	BCL11A (L12*)	Single nucleotide variant (nonsense)	Dias-Logan syndrome	GPathogenic
Select item 1683715	NM_022893.4(BCL11A):c.2138G>A (p.Arg713His)	BCL11A (R679H +1 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 1679411	NM_022893.4(BCL11A):c.3G>A (p.Met1Ile)	BCL11A (M1I)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GPathogenic
Select item 1675112	NM_022893.4(BCL11A):c.15G>A (p.Lys5=)	BCL11A	Single nucleotide variant (synonymous variant)	Dias-Logan syndrome	GUncertain significance
Select item 1342337	NM_022893.4(BCL11A):c.1846_1847delinsA (p.Gly616fs)	BCL11A (G582fs +1 more)	Indel (frameshift variant +1 more)	Dias-Logan syndrome	GPathogenic
Select item 1334760	NM_022893.4(BCL11A):c.1118dup (p.Val374fs)	BCL11A (V340fs +1 more)	Duplication (frameshift variant +1 more)	Dias-Logan syndrome	GPathogenic
Select item 1301373	NM_022893.4(BCL11A):c.1135del (p.Cys379fs)	BCL11A (C345fs +1 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 1297023	NM_022893.4(BCL11A):c.1519del (p.Glu507fs)	BCL11A (E473fs +1 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 1251950	NM_022893.4(BCL11A):c.1847del (p.Gly616fs)	BCL11A (G582fs +1 more)	Deletion (frameshift variant +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 1030618	NM_018014.4(BCL11A):c.2303C>G (p.Ser768Trp)	BCL11A (S768W +13 more)	Single nucleotide variant (missense variant +2 more)	Dias-Logan syndrome	GUncertain significance
Select item 1029866	NM_022893.4(BCL11A):c.142T>C (p.Cys48Arg)	BCL11A (C48R)	Single nucleotide variant (missense variant)	Dias-Logan syndrome	GUncertain significance
Select item 992483	NM_018014.4(BCL11A):c.2231-5dup	BCL11A	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 988747	NM_022893.4(BCL11A):c.540_546del (p.Ser181fs)	BCL11A (S147fs +1 more)	Deletion (frameshift variant)	Dias-Logan syndrome	GLikely pathogenic
Select item 976351	NM_022893.4(BCL11A):c.1663A>T (p.Met555Leu)	BCL11A (M521L +1 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GPathogenic
Select item 976211	NM_022893.4(BCL11A):c.1283T>A (p.Met428Lys)	BCL11A (M394K +1 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome	GUncertain significance
Select item 973307	NM_022893.4(BCL11A):c.317C>T (p.Thr106Met)	BCL11A (T106M)	Single nucleotide variant (missense variant)	Dias-Logan syndrome	GUncertain significance
Select item 834057	NM_022893.4(BCL11A):c.1755C>A (p.Cys585Ter)	BCL11A (C585* +1 more)	Single nucleotide variant (nonsense +1 more)	Dias-Logan syndrome	GLikely pathogenic
Select item 632586	NM_022893.4(BCL11A):c.295del (p.Val99fs)	BCL11A (V99fs)	Deletion (frameshift variant)	Cerebellar vermis hypoplasia +3 more	GPathogenic/Likely pathogenic
Select item 632585	NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs)	BCL11A (V500fs +1 more)	Deletion (frameshift variant +1 more)	Congenital cerebellar hypoplasia +1 more	GPathogenic/Likely pathogenic
Select item 625893	NM_022893.4(BCL11A):c.1078C>G (p.Leu360Val)	BCL11A (L360V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 559890	NM_022893.4(BCL11A):c.193G>T (p.Glu65Ter)	BCL11A (E65*)	Single nucleotide variant (nonsense)	Dias-Logan syndrome +1 more	GLikely pathogenic
Select item 521857	NM_022893.4(BCL11A):c.385+2T>C	BCL11A	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 503758	NM_022893.4(BCL11A):c.529C>T (p.Gln177Ter)	BCL11A (Q177* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 493278	NM_022893.4(BCL11A):c.1925T>G (p.Phe642Cys)	BCL11A (F642C +1 more)	Single nucleotide variant (missense variant +1 more)	Dias-Logan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 426886	NM_022893.4(BCL11A):c.1078dup (p.Leu360fs)	BCL11A (L326fs +1 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental delay +2 more	GPathogenic
Select item 253305	NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter)	BCL11A (Q52*)	Single nucleotide variant (nonsense)	Dias-Logan syndrome	GLikely pathogenic
Select item 253304	NM_022893.4(BCL11A):c.1775_1776insTGG (p.Gly592dup)	BCL11A	Insertion (inframe_insertion +1 more)	Dias-Logan syndrome	GPathogenic
Select item 253302	NM_022893.4(BCL11A):c.198C>A (p.His66Gln)	BCL11A (H66Q)	Single nucleotide variant (missense variant)	Dias-Logan syndrome	GPathogenic
Select item 253301	NM_022893.4(BCL11A):c.143G>T (p.Cys48Phe)	BCL11A (C48F)	Single nucleotide variant (missense variant)	Dias-Logan syndrome	GPathogenic
Select item 253300	NM_022893.4(BCL11A):c.139A>C (p.Thr47Pro)	BCL11A (T47P)	Single nucleotide variant (missense variant)	Dias-Logan syndrome	GPathogenic
Select item 127265	NM_022893.4(BCL11A):c.386-24278G>A	BCL11A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 56