C5193014[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333897	NM_003282.4(TNNI2):c.520C>T (p.Arg174Trp)	TNNI2 (R174W)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GLikely pathogenic
Select item 12435	NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln)	TNNI2 (R174Q)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +1 more	GPathogenic
Select item 1326277	NM_003282.4(TNNI2):c.532T>A (p.Phe178Ile)	TNNI2 (F178I)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GUncertain significance

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ClinVar