"GeneDx"[submitter] AND "MRPL44"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146029	GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1	ACSL3, ACSL3-AS1 +75 more	Copy number loss	See cases	GPathogenic
Select item 682627	NM_022915.3(MRPL44):c.-400A>T	MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1223261	NC_000002.12:g.223957267T>G	LOC129935703, MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1220313	NC_000002.12:g.223957323C>A	MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1178614	NC_000002.12:g.223957326C>G	MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1246226	NC_000002.12:g.223957389G>T	LOC129935704, MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 381827	NM_022915.5(MRPL44):c.30G>A (p.Gln10=)	LOC129935704, MRPL44	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1343008	NM_022915.5(MRPL44):c.34G>A (p.Gly12Arg)	LOC129935704, MRPL44 (G12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 214666	NM_022915.5(MRPL44):c.38A>G (p.His13Arg)	LOC129935704, MRPL44 (H13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196100	NM_022915.5(MRPL44):c.40C>T (p.Arg14Cys)	LOC129935704, MRPL44 (R14C)	Single nucleotide variant (missense variant)	MRPL44-related condition +1 more	GLikely benign
Select item 1396119	NM_022915.5(MRPL44):c.92T>A (p.Val31Glu)	MRPL44 (V31E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467357	NM_022915.5(MRPL44):c.109G>T (p.Ala37Ser)	MRPL44 (A37S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513607	NM_022915.5(MRPL44):c.179+9C>T	MRPL44	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1191372	NM_022915.5(MRPL44):c.179+206C>A	MRPL44	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682628	NM_022915.5(MRPL44):c.179+301T>C	MRPL44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669505	NM_022915.5(MRPL44):c.180-249C>A	MRPL44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214667	NM_022915.5(MRPL44):c.313C>T (p.Arg105Cys)	MRPL44 (R105C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 138243	NM_022915.5(MRPL44):c.413C>T (p.Thr138Ile)	MRPL44 (T138I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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
Select item 138244	NM_022915.5(MRPL44):c.546A>G (p.Glu182=)	MRPL44	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1695583	NM_022915.5(MRPL44):c.618T>G (p.Ser206Arg)	MRPL44 (S206R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138245	NM_022915.5(MRPL44):c.624T>C (p.Pro208=)	MRPL44	Single nucleotide variant (synonymous variant)	MRPL44-related condition +2 more	GBenign
Select item 214665	NM_022915.5(MRPL44):c.648+4C>T	MRPL44	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 379868	NM_022915.5(MRPL44):c.648+16T>C	MRPL44	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1231654	NM_022915.5(MRPL44):c.648+165T>C	MRPL44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198045	NM_022915.5(MRPL44):c.648+171T>A	MRPL44	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230079	NM_022915.5(MRPL44):c.649-295dup	MRPL44	Duplication (intron variant)	not provided	GBenign
Select item 682635	NM_022915.5(MRPL44):c.649-175G>A	MRPL44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138246	NM_022915.5(MRPL44):c.672T>A (p.Thr224=)	MRPL44	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1301298	NM_022915.5(MRPL44):c.746A>G (p.Asn249Ser)	MRPL44 (N249S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 674589	NM_022915.5(MRPL44):c.792C>T (p.Thr264=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 386088	NM_022915.5(MRPL44):c.801G>A (p.Leu267=)	MRPL44	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 138247	NM_022915.5(MRPL44):c.827+18C>T	MRPL44	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1179431	NM_022915.5(MRPL44):c.827+210T>G	MRPL44	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138248	NM_022915.5(MRPL44):c.828-13G>C	MRPL44	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 512669	NM_022915.5(MRPL44):c.882A>G (p.Glu294=)	MRPL44	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 667533	NM_022915.5(MRPL44):c.885G>A (p.Glu295=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 516495	NM_022915.5(MRPL44):c.888T>G (p.Ala296=)	MRPL44	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 513807	NM_022915.5(MRPL44):c.954G>A (p.Lys318=)	MRPL44	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1291205	NM_022915.5(MRPL44):c.*2C>T	MRPL44	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1210506	NM_022915.5(MRPL44):c.*81A>G	MRPL44	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

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Items: 42