ClinVar for MedGen (Select 1684709) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358926	NM_001260.3(CDK8):c.533G>A (p.Arg178Gln)	CDK8 (R178Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely pathogenic
Select item 3236205	NM_001260.3(CDK8):c.185C>G (p.Ser62Trp)	CDK8 (S62W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely pathogenic
Select item 3234070	NM_001260.3(CDK8):c.398A>G (p.Tyr133Cys)	CDK8 (Y133C)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 3068624	NM_001260.3(CDK8):c.1163C>A (p.Pro388Gln)	CDK8 (P215Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 2444300	NM_001260.3(CDK8):c.89G>A (p.Gly30Asp)	CDK8, LOC130009416 (G30D)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 2439884	NM_001260.3(CDK8):c.747T>G (p.His249Gln)	CDK8 (H249Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 2439883	NM_001260.3(CDK8):c.129del	CDK8	Deletion (splice acceptor variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 2439882	NM_001260.3(CDK8):c.379A>G (p.Met127Val)	CDK8 (M127V)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 2431811	NM_001260.3(CDK8):c.1261G>C (p.Asp421His)	CDK8 (D248H +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 1810411	NM_001260.3(CDK8):c.586A>T (p.Thr196Ser)	CDK8 (T23S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely pathogenic
Select item 1805781	NM_001260.3(CDK8):c.1299C>G (p.Asn433Lys)	CDK8 (N260K +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 1805725	NM_001260.3(CDK8):c.32G>A (p.Ser11Asn)	CDK8, LOC130009416 (S11N)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 1802178	NM_001260.3(CDK8):c.89G>T (p.Gly30Val)	CDK8, LOC130009416 (G30V)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely pathogenic
Select item 1708079	NM_001260.3(CDK8):c.212G>A (p.Arg71Gln)	CDK8 (R71Q)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely benign
Select item 1705513	NM_001260.3(CDK8):c.583G>T (p.Val195Phe)	CDK8 (V195F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 1341745	NM_001260.3(CDK8):c.1322C>T (p.Pro441Leu)	CDK8 (P268L +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GUncertain significance
Select item 1209718	NM_001260.3(CDK8):c.934-28G>A	CDK8	Single nucleotide variant (intron variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities +1 more	GBenign
Select item 996136	NM_001260.3(CDK8):c.587C>T (p.Thr196Ile)	CDK8 (T196I +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely pathogenic
Select item 982990	NM_001260.3(CDK8):c.479T>C (p.Met160Thr)	CDK8 (M160T)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GLikely pathogenic
Select item 871514	NM_001260.3(CDK8):c.599G>A (p.Arg200Gln)	CDK8 (R27Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 805985	NM_001260.3(CDK8):c.669A>G (p.Ile223Met)	CDK8 (I223M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GPathogenic
Select item 805984	NM_001260.3(CDK8):c.578T>G (p.Val193Gly)	CDK8 (V20G)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GPathogenic
Select item 805983	NM_001260.3(CDK8):c.88G>A (p.Gly30Ser)	CDK8, LOC130009416 (G30S)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GPathogenic
Select item 805982	NM_001260.3(CDK8):c.85C>G (p.Arg29Gly)	CDK8, LOC130009416 (R29G)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities	GPathogenic
Select item 805981	NM_001260.3(CDK8):c.185C>T (p.Ser62Leu)	CDK8 (S62L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypotonia and behavioral abnormalities +1 more	GPathogenic

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Items: 25