Related gene-specific medical variations for Gene (Select 91526) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067112	NM_001195144.2(ANKRD44):c.1317-1308T>C	ANKRD44	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 2273395	NM_001195144.2(ANKRD44):c.10C>T (p.Leu4Phe)	ANKRD44, LOC129935352 (L4F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 562551	GRCh37/hg19 2q33.1(chr2:198000249-198236704)x3	ANKRD44	Copy number gain	not provided	GUncertain significance

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