ClinVar for MedGen (Select 816410) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690219	NM_003184.4(TAF2):c.742T>G (p.Ser248Ala)	TAF2 (S248A)	Single nucleotide variant (missense variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome	GUncertain significance
Select item 2080668	NM_003184.4(TAF2):c.718A>G (p.Ile240Val)	TAF2 (I240V)	Single nucleotide variant (missense variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome +2 more	GUncertain significance
Select item 1806380	NM_003184.4(TAF2):c.1152A>C (p.Lys384Asn)	TAF2 (K384N)	Single nucleotide variant (missense variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome	GUncertain significance
Select item 1806342	NM_003184.4(TAF2):c.938A>T (p.Tyr313Phe)	TAF2 (Y313F)	Single nucleotide variant (missense variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome	GUncertain significance
Select item 1645633	NM_003184.4(TAF2):c.1684-17C>T	TAF2	Single nucleotide variant (intron variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 1411146	NM_003184.4(TAF2):c.2458G>A (p.Asp820Asn)	TAF2 (D820N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1337261	NM_003184.4(TAF2):c.3320T>G (p.Leu1107Arg)	TAF2 (L1107R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1336185	NM_003184.4(TAF2):c.466A>G (p.Lys156Glu)	TAF2 (K156E)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1334920	NM_003184.4(TAF2):c.418+40C>T	TAF2	Single nucleotide variant (intron variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome	GBenign
Select item 1334919	NM_003184.4(TAF2):c.1568+27G>A	TAF2	Single nucleotide variant (intron variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome	GBenign
Select item 1242832	NM_001366285.2(TBXT):c.530G>A (p.Gly177Asp)	TBXT (G177D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1170269	NM_003184.4(TAF2):c.2250G>A (p.Gln750=)	TAF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1170268	NM_003184.4(TAF2):c.2254-17dup	TAF2	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1170267	NM_003184.4(TAF2):c.2319A>G (p.Thr773=)	TAF2	Single nucleotide variant (synonymous variant)	TAF2-related disorder +2 more	GBenign
Select item 1170148	NM_003184.4(TAF2):c.792+14T>C	TAF2	Single nucleotide variant (intron variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome +1 more	GBenign
Select item 1170147	NM_003184.4(TAF2):c.2112+14C>T	TAF2	Single nucleotide variant (intron variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome +1 more	GBenign
Select item 1169029	NM_003184.4(TAF2):c.3471G>A (p.Lys1157=)	TAF2	Single nucleotide variant (synonymous variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome +1 more	GBenign
Select item 1165135	NM_003184.4(TAF2):c.1323G>A (p.Leu441=)	TAF2	Single nucleotide variant (synonymous variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome +1 more	GBenign
Select item 1165134	NM_003184.4(TAF2):c.1340G>C (p.Ser447Thr)	TAF2 (S447T)	Single nucleotide variant (missense variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome +1 more	GBenign
Select item 1164520	NM_003184.4(TAF2):c.23C>T (p.Pro8Leu)	LOC130001012, TAF2 (P8L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1064424	NM_003184.4(TAF2):c.2380T>A (p.Tyr794Asn)	TAF2 (Y794N)	Single nucleotide variant (missense variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome	GPathogenic/Likely pathogenic
Select item 1030638	NM_003184.4(TAF2):c.83+3A>G	TAF2	Single nucleotide variant (intron variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome	GUncertain significance
Select item 666328	NM_003184.4(TAF2):c.2531C>T (p.Pro844Leu)	TAF2 (P844L)	Single nucleotide variant (missense variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 436942	NM_003184.4(TAF2):c.157A>G (p.Ile53Val)	TAF2 (I53V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 436940	NM_003184.4(TAF2):c.1655A>T (p.Tyr552Phe)	TAF2 (Y552F)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 92251	NM_003184.4(TAF2):c.557C>G (p.Thr186Arg)	TAF2 (T186R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92250	NM_003184.4(TAF2):c.1247C>A (p.Pro416His)	TAF2 (P416H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92249	NM_003184.4(TAF2):c.1945T>C (p.Trp649Arg)	TAF2 (W649R)	Single nucleotide variant (missense variant)	Microcephaly-thin corpus callosum-intellectual disability syndrome	GPathogenic

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Links from MedGen

Items: 28