"ANKRD1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1765014	NM_014391.3(ANKRD1):c.889A>G (p.Asn297Asp)	ANKRD1 (N297D)	Single nucleotide variant (missense variant)	ANKRD1-related disorder +2 more	GUncertain significance
Select item 264542	NM_014391.3(ANKRD1):c.751-4C>A	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 388979	NM_014391.3(ANKRD1):c.750+5G>A	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related dilated cardiomyopathy +2 more	GUncertain significance
Select item 3054308	NM_014391.3(ANKRD1):c.726G>A (p.Glu242=)	ANKRD1	Single nucleotide variant (synonymous variant)	ANKRD1-related disorder	GLikely benign
Select item 45636	NM_014391.3(ANKRD1):c.652-10A>T	ANKRD1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2631081	NM_014391.3(ANKRD1):c.532dup (p.Gln178fs)	ANKRD1 (Q178fs)	Duplication (frameshift variant)	ANKRD1-related disorder	GUncertain significance
Select item 191577	NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)	ANKRD1 (T123M)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 3058827	NM_014391.3(ANKRD1):c.346-10_346-9del	ANKRD1	Deletion (intron variant)	ANKRD1-related disorder	GLikely benign
Select item 416999	NM_014391.3(ANKRD1):c.346-21ATTT[4]	ANKRD1	Microsatellite (intron variant)	ANKRD1-related disorder +1 more	GLikely benign
Select item 1598017	NM_014391.3(ANKRD1):c.346-21_346-12del	ANKRD1	Deletion (intron variant)	ANKRD1-related disorder +1 more	GLikely benign
Select item 1291289	NM_014391.3(ANKRD1):c.346-27_346-12del	ANKRD1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 301605	NM_014391.3(ANKRD1):c.346-29_346-12del	ANKRD1	Deletion (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 136403	NM_014391.3(ANKRD1):c.346-15T>A	ANKRD1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1198262	NM_014391.3(ANKRD1):c.346-43AT[14]	ANKRD1	Microsatellite (intron variant)	ANKRD1-related dilated cardiomyopathy +2 more	GLikely benign
Select item 1190357	NM_014391.3(ANKRD1):c.346-43AT[15]	ANKRD1	Microsatellite (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1616935	NM_014391.3(ANKRD1):c.346-43AT[11]	ANKRD1	Microsatellite (intron variant)	ANKRD1-related disorder +2 more	GBenign/Likely benign
Select item 1273784	NM_014391.3(ANKRD1):c.346-36T>C	ANKRD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 263990	NM_014391.3(ANKRD1):c.154C>G (p.Pro52Ala)	ANKRD1 (P52A)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 379748	NM_014391.3(ANKRD1):c.108T>C (p.Ala36=)	ANKRD1	Single nucleotide variant (synonymous variant)	Primary dilated cardiomyopathy +5 more	GBenign/Likely benign
Select item 514095	NM_014391.3(ANKRD1):c.28-6T>C	ANKRD1	Single nucleotide variant (intron variant)	ANKRD1-related disorder +2 more	GLikely benign

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Items: 20