Related gene-specific medical variations for Gene (Select 1028) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382664	NM_001122630.2(CDKN1C):c.166C>T (p.Gln56Ter)	CDKN1C (Q56* +1 more)	Single nucleotide variant (nonsense)	IMAGe syndrome +1 more	GLikely pathogenic
Select item 3241068	NM_001122630.2(CDKN1C):c.449_460del (p.144AP[3])	CDKN1C	Deletion (inframe_deletion +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3241067	NM_001122630.2(CDKN1C):c.284C>G (p.Pro95Arg)	CDKN1C (P106R +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3241066	NM_001122630.2(CDKN1C):c.346G>A (p.Asp116Asn)	CDKN1C (D116N +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3241065	NM_001122630.2(CDKN1C):c.272T>A (p.Leu91Gln)	CDKN1C (L102Q +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 3062304	NM_001122630.2(CDKN1C):c.19del (p.Arg7fs)	CDKN1C (R18fs +1 more)	Deletion (frameshift variant)	Beckwith-Wiedemann syndrome	GLikely pathogenic
Select item 3062133	NM_001122630.2(CDKN1C):c.289_292del (p.Pro97fs)	CDKN1C (P108fs +1 more)	Deletion (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GLikely pathogenic
Select item 2686049	NM_001122630.2(CDKN1C):c.820G>A (p.Glu274Lys)	CDKN1C (E274K +1 more)	Single nucleotide variant (missense variant +1 more)	IMAGe syndrome	GUncertain significance
Select item 2680547	NM_001122630.2(CDKN1C):c.476_477del (p.Ala159fs)	CDKN1C (A159fs +1 more)	Microsatellite (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GLikely pathogenic
Select item 2680546	NM_001122630.2(CDKN1C):c.289_304del (p.Pro97fs)	CDKN1C (P108fs +1 more)	Deletion (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GLikely pathogenic
Select item 2680545	NM_001122630.2(CDKN1C):c.901C>T (p.Arg301Cys)	CDKN1C (R301C +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2680544	NM_001122630.2(CDKN1C):c.664C>T (p.Arg222Cys)	CDKN1C (R222C +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2680543	NM_001122630.2(CDKN1C):c.355G>C (p.Glu119Gln)	CDKN1C (E119Q +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2680541	NM_001122630.2(CDKN1C):c.650C>T (p.Ala217Val)	CDKN1C (A217V +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2582596	NM_001122630.2(CDKN1C):c.*5+1G>A	CDKN1C	Single nucleotide variant (splice donor variant)	IMAGe syndrome +1 more	GUncertain significance
Select item 986832	NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser)	CDKN1C (R268S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 978217	NM_001122630.2(CDKN1C):c.637_652delinsCCC (p.Ala213fs)	CDKN1C (A213fs +1 more)	Indel (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 591586	NM_001122630.2(CDKN1C):c.7_8insAAGA (p.Arg3fs)	CDKN1C (R14fs +1 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 562237	NM_001122630.2(CDKN1C):c.573_574del (p.Ala192fs)	CDKN1C (A192fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 192357	NM_001122630.2(CDKN1C):c.608_611delinsGGG (p.Pro203fs)	CDKN1C (P203fs +1 more)	Indel (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 192356	NM_001122630.2(CDKN1C):c.602del (p.Pro201fs)	CDKN1C (P201fs +1 more)	Deletion (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 192355	NM_001122630.2(CDKN1C):c.598delinsAA (p.Ala200fs)	CDKN1C (A211fs +1 more)	Indel (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 192354	NM_001122630.2(CDKN1C):c.596_597insGCTCCGGCCCC (p.Ala200fs)	CDKN1C (A200fs +1 more)	Insertion (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 192352	NM_001122630.2(CDKN1C):c.416del (p.Pro139fs)	CDKN1C (P150fs +1 more)	Deletion (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 146916	GRCh38/hg38 11p15.4(chr11:2883714-2883812)x3	CDKN1C	Copy number gain	See cases	Gconflicting data from submitters
Select item 143246	NM_001122630.2(CDKN1C):c.*5+2T>C	CDKN1C	Single nucleotide variant (splice donor variant)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 132850	NM_001122630.2(CDKN1C):c.367dup (p.Glu123fs)	CDKN1C (E134fs +1 more)	Duplication (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 132848	NM_001122630.2(CDKN1C):c.300dup (p.Ala101fs)	CDKN1C (A112fs +1 more)	Duplication (frameshift variant +1 more)	Beckwith-Wiedemann syndrome	GPathogenic

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Links from Gene

Items: 28