C1854630[trait identifier] AND "3billion"[submitter] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802795	NM_001197104.2(KMT2A):c.173dup (p.Ala59fs)	KMT2A (A59fs)	Duplication (frameshift variant)	Wiedemann-Steiner syndrome +1 more	GPathogenic
Select item 1687356	NM_001197104.2(KMT2A):c.658_662del (p.Lys220fs)	KMT2A (K220fs)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1320181	NM_001197104.2(KMT2A):c.731T>G (p.Leu244Ter)	KMT2A (L244*)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1304298	NM_001197104.2(KMT2A):c.2198A>G (p.Asn733Ser)	KMT2A (N733S)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1333227	NM_001197104.2(KMT2A):c.2214_2218dup (p.Val740fs)	KMT2A (V740fs)	Microsatellite (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 522154	NM_001197104.2(KMT2A):c.2318del (p.Pro773fs)	KMT2A (P773fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2034237	NM_001197104.2(KMT2A):c.2608A>T (p.Lys870Ter)	KMT2A (K870* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1526028	NM_001197104.2(KMT2A):c.2982_2988del (p.Ser995fs)	KMT2A (S995fs)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 432486	NM_001197104.2(KMT2A):c.3190C>T (p.Arg1064Ter)	KMT2A (R1064*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 802798	NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter)	KMT2A (Q1198*)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1320198	NM_001197104.2(KMT2A):c.3634+1G>A	KMT2A	Single nucleotide variant (splice donor variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 1320225	NM_001197104.2(KMT2A):c.3853C>T (p.Gln1285Ter)	KMT2A (Q1285*)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 1254470	NM_001197104.2(KMT2A):c.5572C>T (p.Arg1858Ter)	KMT2A (R1855* +1 more)	Single nucleotide variant (nonsense)	Wiedemann-Steiner syndrome +1 more	GPathogenic
Select item 1705560	NM_001197104.2(KMT2A):c.6141_6142dup (p.Phe2048fs)	KMT2A (F2045fs +1 more)	Microsatellite (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 2572594	NM_001197104.2(KMT2A):c.6158+1del	KMT2A	Deletion (splice donor variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 978869	NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter)	KMT2A (R2656* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic
Select item 2820162	NM_001197104.2(KMT2A):c.8455T>C (p.Ser2819Pro)	KMT2A (S2849P +2 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1698465	NM_001197104.2(KMT2A):c.8766A>C (p.Glu2922Asp)	KMT2A (E2919D +1 more)	Single nucleotide variant (missense variant)	Wiedemann-Steiner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1526149	NM_001197104.2(KMT2A):c.9035del (p.Cys3012fs)	KMT2A (C3009fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GLikely pathogenic
Select item 3009136	NM_001197104.2(KMT2A):c.10714A>G (p.Ile3572Val)	KMT2A (I3569V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1687573	NM_001197104.2(KMT2A):c.11514-2A>C	KMT2A, TTC36-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Wiedemann-Steiner syndrome	GLikely pathogenic

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Items: 21