"Genetic Services Laboratory, University of Chicago"[submitter] AND "A - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1335967	NM_013275.6(ANKRD11):c.7750G>A (p.Ala2584Thr)	ANKRD11 (A2584T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 450818	NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)	ANKRD11 (R2328fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 434201	NM_013275.6(ANKRD11):c.6893G>T (p.Arg2298Leu)	ANKRD11 (R2298L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434193	NM_013275.6(ANKRD11):c.6797C>T (p.Ala2266Val)	ANKRD11 (A2266V)	Single nucleotide variant (missense variant)	KBG syndrome +4 more	GLikely benign
Select item 445313	NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys)	ANKRD11 (R2249C)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GBenign/Likely benign
Select item 434197	NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter)	ANKRD11 (E2224*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1337348	NM_013275.6(ANKRD11):c.6218C>T (p.Pro2073Leu)	ANKRD11 (P2073L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 376944	NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn)	ANKRD11 (D2036N)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1289788	NM_013275.6(ANKRD11):c.6072G>C (p.Pro2024=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1211109	NM_013275.6(ANKRD11):c.6024C>T (p.Phe2008=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1153588	NM_013275.6(ANKRD11):c.5898C>T (p.Thr1966=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 210180	NM_013275.6(ANKRD11):c.5661A>G (p.Gln1887=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +3 more	GBenign/Likely benign
Select item 589488	NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser)	ANKRD11 (P1837S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign
Select item 717426	NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 588026	NM_013275.6(ANKRD11):c.5178C>T (p.Ser1726=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1336411	NM_013275.6(ANKRD11):c.4970C>T (p.Ser1657Leu)	ANKRD11 (S1657L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1337373	NM_013275.6(ANKRD11):c.4244A>G (p.Glu1415Gly)	ANKRD11 (E1415G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 588480	NM_013275.6(ANKRD11):c.4149C>T (p.Gly1383=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 434198	NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs)	ANKRD11 (K1211fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 434199	NM_013275.6(ANKRD11):c.3418G>A (p.Ala1140Thr)	ANKRD11 (A1140T)	Single nucleotide variant (missense variant)	KBG syndrome +4 more	GConflicting classifications of pathogenicity
Select item 434194	NM_013275.6(ANKRD11):c.2805G>A (p.Ser935=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 807371	NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)	ANKRD11 (R906*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 585404	NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln)	ANKRD11 (R840Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 434195	NM_013275.6(ANKRD11):c.2505C>T (p.Asp835=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +1 more	GBenign/Likely benign
Select item 1338433	NM_013275.6(ANKRD11):c.2464C>T (p.Gln822Ter)	ANKRD11 (Q822*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 434196	NM_013275.6(ANKRD11):c.2373G>A (p.Lys791=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 697522	NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu)	ANKRD11 (S747L)	Single nucleotide variant (missense variant)	ANKRD11-related condition +4 more	GBenign/Likely benign
Select item 1254160	NM_013275.6(ANKRD11):c.1577A>T (p.His526Leu)	ANKRD11 (H526L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 434200	NM_013275.6(ANKRD11):c.988A>G (p.Lys330Glu)	ANKRD11 (K330E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 643898	NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile)	ANKRD11 (T39I)	Single nucleotide variant (missense variant +1 more)	KBG syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 30