"ANKRD31-related condition"[Disease/phenotype] AND "PreventionGenetics - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2520870	NM_001372053.1(ANKRD31):c.4748G>A (p.Cys1583Tyr)	ANKRD31 (C1526Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2630653	NM_001372053.1(ANKRD31):c.2933A>G (p.Asp978Gly)	ANKRD31 (D978G)	Single nucleotide variant (missense variant)	ANKRD31-related condition	GUncertain significance
Select item 2343105	NM_001372053.1(ANKRD31):c.1694A>G (p.Asn565Ser)	ANKRD31 (N565S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 714297	NM_001372053.1(ANKRD31):c.1669A>G (p.Thr557Ala)	ANKRD31 (T557A)	Single nucleotide variant (missense variant)	ANKRD31-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3038778	NM_001372053.1(ANKRD31):c.686C>T (p.Thr229Ile)	ANKRD31 (T229I)	Single nucleotide variant (missense variant)	ANKRD31-related condition	GLikely benign

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