"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376961	NM_013275.6(ANKRD11):c.7519C>A (p.Gln2507Lys)	ANKRD11 (Q2507K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 445313	NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys)	ANKRD11 (R2249C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 377125	NM_013275.6(ANKRD11):c.6362C>T (p.Ala2121Val)	ANKRD11 (A2121V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 445802	NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)	ANKRD11 (K2038E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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 specified +3 more	GBenign/Likely benign
Select item 377319	NM_013275.6(ANKRD11):c.6020C>T (p.Pro2007Leu)	ANKRD11 (P2007L)	Single nucleotide variant (missense variant)	ANKRD11-related disorder +3 more	GBenign/Likely benign
Select item 445952	NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)	ANKRD11 (D1696E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 446079	NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys)	ANKRD11 (E1413K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 377179	NM_013275.6(ANKRD11):c.4235T>C (p.Ile1412Thr)	ANKRD11 (I1412T)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GLikely benign
Select item 376984	NM_013275.6(ANKRD11):c.3977C>T (p.Thr1326Met)	ANKRD11 (T1326M)	Single nucleotide variant (missense variant)	ANKRD11-related disorder +3 more	GLikely benign
Select item 445552	NM_013275.6(ANKRD11):c.2216C>T (p.Ser739Leu)	ANKRD11 (S739L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 265689	NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)	ANKRD11 (N725fs)	Microsatellite (frameshift variant)	KBG syndrome +1 more	GPathogenic/Likely pathogenic
Select item 445449	NM_013275.6(ANKRD11):c.744+18C>G	ANKRD11	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 446061	NM_013275.6(ANKRD11):c.-59-7254G>A	ANKRD11, LOC100287036 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 376928	NM_013275.6(ANKRD11):c.-59-7422C>T	ANKRD11, LOC100287036 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 445360	NM_013275.6(ANKRD11):c.-59-7491G>A	ANKRD11, LOC100287036 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign