"GeneDx"[submitter] AND "MRPS16"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 1291206	NM_016065.4(MRPS16):c.*13T>C	DNAJC9-AS1, MRPS16	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 214673	NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg)	MRPS16, DNAJC9-AS1 (T130R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 214672	NM_016065.4(MRPS16):c.380C>T (p.Ala127Val)	MRPS16, DNAJC9-AS1 (A127V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 214671	NM_016065.4(MRPS16):c.344C>T (p.Ala115Val)	DNAJC9-AS1, MRPS16 (A115V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214676	NM_016065.4(MRPS16):c.332G>A (p.Arg111Gln)	DNAJC9-AS1, MRPS16 (R111Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214675	NM_016065.4(MRPS16):c.300T>A (p.His100Gln)	DNAJC9-AS1, MRPS16 (H100Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214677	NM_016065.3(MRPS16):c.275delG	DNAJC9-AS1, MRPS16	Deletion (intron variant)	not provided	GPathogenic
Select item 1316802	NM_016065.4(MRPS16):c.275-153C>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682636	NM_016065.4(MRPS16):c.275-247A>G	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673190	NM_016065.4(MRPS16):c.275-297T>C	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287333	NM_016065.4(MRPS16):c.274+220del	DNAJC9-AS1, MRPS16	Deletion (intron variant)	not provided	GBenign
Select item 1264988	NM_016065.4(MRPS16):c.274+212A>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318329	NM_016065.4(MRPS16):c.274+66G>A	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 510970	NM_016065.4(MRPS16):c.135C>T (p.Gly45=)	DNAJC9-AS1, MRPS16	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214670	NM_016065.4(MRPS16):c.112C>A (p.His38Asn)	DNAJC9-AS1, MRPS16 (H38N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 516281	NM_016065.4(MRPS16):c.66C>T (p.Ala22=)	DNAJC9-AS1, MRPS16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 300721	NM_016065.4(MRPS16):c.63T>C (p.Leu21=)	MRPS16, DNAJC9-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214669	NM_016065.4(MRPS16):c.38G>A (p.Arg13His)	DNAJC9-AS1, MRPS16 (R13H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 300723	NM_016065.4(MRPS16):c.34T>C (p.Tyr12His)	DNAJC9-AS1, MRPS16 (Y12H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 513593	NM_016065.4(MRPS16):c.21C>T (p.Leu7=)	MRPS16, DNAJC9-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1317884	NM_016065.4(MRPS16):c.14-3C>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 300725	NM_016065.4(MRPS16):c.14-12G>A	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1179489	NM_016065.4(MRPS16):c.14-161C>G	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178938	NM_016065.4(MRPS16):c.13+106T>C	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512930	NM_016065.4(MRPS16):c.13+12G>C	DNAJC9-AS1, MRPS16	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 138249	NM_016065.4(MRPS16):c.-8G>C	DNAJC9-AS1, MRPS16	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 382432	NM_016065.4(MRPS16):c.-13C>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 300727	NM_016065.4(MRPS16):c.-95G>A	DNAJC9-AS1, MRPS16	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 300728	NM_016065.4(MRPS16):c.-103G>T	DNAJC9-AS1, MRPS16	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1317795	NC_000010.11:g.73252708C>T	DNAJC9-AS1, MRPS16	Single nucleotide variant	not provided	GLikely benign
Select item 253864	GRCh37/hg19 10q22.2(chr10:75010165-75013328)x3	MRPS16	Copy number gain	See cases	GUncertain significance

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Items: 33