ClinVar for MedGen (Select 815669) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1697344	NM_022915.5(MRPL44):c.233G>A (p.Arg78Gln)	MRPL44	Single nucleotide variant (missense variant)	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	GLikely pathogenic
Select item 1251974	NM_022915.5(MRPL44):c.467T>C (p.Leu156Pro)	MRPL44 (L156P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1251973	NM_022915.5(MRPL44):c.481_484delinsTC (p.Thr161fs)	MRPL44 (T161fs)	Indel (frameshift variant)	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	GPathogenic
Select item 1029868	NM_022915.5(MRPL44):c.791C>G (p.Thr264Ser)	MRPL44 (T264S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 585160	NM_022915.5(MRPL44):c.496G>A (p.Val166Met)	MRPL44 (V166M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138247	NM_022915.5(MRPL44):c.827+18C>T	MRPL44	Single nucleotide variant (intron variant)	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency +2 more	GBenign/Likely benign
Select item 64624	NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)	MRPL44 (L156R)	Single nucleotide variant (missense variant)	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency +1 more	GPathogenic/Likely pathogenic

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