"GeneDx"[submitter] AND "LOC129935186"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 506304	NM_001267550.2(TTN):c.97192+6G>A	LOC129935186, TTN +1 more	Single nucleotide variant (intron variant)	Early-onset myopathy with fatal cardiomyopathy +6 more	GConflicting classifications of pathogenicity

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