"GeneDx"[submitter] AND "MRPS7"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1227959	NM_015971.3(MRPS7):c.-169G>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507137	NM_015971.3(MRPS7):c.-50G>A	GGA3, MRPS7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 379995	NM_015971.4(MRPS7):c.5C>T (p.Ala2Val)	GGA3, MRPS7 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 390699	NM_015971.4(MRPS7):c.27C>T (p.Ala9=)	GGA3, MRPS7	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 380587	NM_015971.4(MRPS7):c.47C>T (p.Ala16Val)	GGA3, MRPS7 (A16V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 511632	NM_015971.4(MRPS7):c.66T>C (p.Ala22=)	GGA3, MRPS7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1318189	NM_015971.4(MRPS7):c.83+22dup	GGA3, MRPS7	Duplication (intron variant)	not provided	GLikely benign
Select item 1251728	NM_015971.4(MRPS7):c.83+21_83+22del	GGA3, MRPS7	Deletion (intron variant)	not provided	GBenign
Select item 1263999	NM_015971.4(MRPS7):c.83+23_83+24del	GGA3, MRPS7	Deletion (intron variant)	not provided +1 more	GBenign
Select item 676153	NM_015971.4(MRPS7):c.83+22G>C	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316110	NM_015971.4(MRPS7):c.83+23C>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231509	NM_015971.4(MRPS7):c.83+23del	GGA3, MRPS7	Deletion (intron variant)	not provided	GBenign
Select item 676154	NM_015971.4(MRPS7):c.83+23C>G	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1296485	NM_015971.4(MRPS7):c.83+29G>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258115	NM_015971.4(MRPS7):c.83+137G>T	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671366	NM_015971.4(MRPS7):c.83+245T>G	GGA3, MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275632	NM_015971.4(MRPS7):c.84-99C>T	MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678338	NM_015971.4(MRPS7):c.84-80C>T	MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677495	NM_015971.4(MRPS7):c.84-74T>C	MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422926	NM_015971.4(MRPS7):c.84-7dup	MRPS7	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 388894	NM_015971.4(MRPS7):c.84-14T>C	MRPS7	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1318954	NM_015971.4(MRPS7):c.84-8C>A	MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 386929	NM_015971.4(MRPS7):c.84-8C>T	MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 382414	NM_015971.4(MRPS7):c.84-8C>G	MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392386	NM_015971.4(MRPS7):c.117T>C (p.Pro39=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1275692	NM_015971.4(MRPS7):c.339+135C>T	MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671368	NM_015971.4(MRPS7):c.339+153T>C	MRPS7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287778	NM_015971.4(MRPS7):c.339+214dup	MRPS7	Duplication (intron variant)	not provided	GBenign
Select item 515639	NM_015971.4(MRPS7):c.507+18G>T	MRPS7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1316754	NM_015971.4(MRPS7):c.507+248T>C	MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317575	NM_015971.4(MRPS7):c.508-146C>T	MRPS7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382643	NM_015971.4(MRPS7):c.508-10T>C	MRPS7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 382075	NM_015971.4(MRPS7):c.508-4C>T	MRPS7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1317391	NM_015971.4(MRPS7):c.576G>T (p.Arg192=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1252103	NM_015971.4(MRPS7):c.593G>A (p.Arg198Gln)	MRPS7 (R198Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 380071	NM_015971.4(MRPS7):c.624G>A (p.Lys208=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 382372	NM_015971.4(MRPS7):c.645C>T (p.Asn215=)	MRPS7	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 512314	NM_015971.4(MRPS7):c.654C>G (p.Pro218=)	MRPS7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1315693	NM_015971.4(MRPS7):c.688G>A (p.Ala230Thr)	MRPS7 (A230T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1317527	NM_015971.4(MRPS7):c.*266T>C	MRPS7	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1260559	NM_015971.4(MRPS7):c.*289T>C	MRPS7	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 41