C5190991[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1371899	NM_017909.4(RMND1):c.1295T>C (p.Ile432Thr)	RMND1 (I262T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1468396	NM_017909.4(RMND1):c.1289G>C (p.Trp430Ser)	RMND1 (W260S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 39765	NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln)	RMND1 (R417Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1387810	NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs)	RMND1 (L242fs +1 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 11 +1 more	GPathogenic/Likely pathogenic
Select item 714404	NM_017909.4(RMND1):c.1209T>C (p.Asn403=)	RMND1	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 11 +1 more	GBenign/Likely benign
Select item 735961	NM_017909.4(RMND1):c.1167G>A (p.Thr389=)	RMND1	Single nucleotide variant (synonymous variant)	RMND1-related disorder +2 more	GBenign/Likely benign
Select item 1496042	NM_017909.4(RMND1):c.1159G>C (p.Asp387His)	RMND1 (D217H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1414134	NM_017909.4(RMND1):c.1084C>T (p.Arg362Cys)	RMND1 (R362C +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11 +1 more	GUncertain significance
Select item 1651513	NM_017909.4(RMND1):c.1077A>G (p.Leu359=)	RMND1	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 11 +1 more	GLikely benign
Select item 801002	NM_017909.4(RMND1):c.920A>G (p.Asn307Ser)	RMND1 (N307S +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11 +1 more	GUncertain significance
Select item 1446903	NM_017909.4(RMND1):c.795C>G (p.His265Gln)	RMND1 (H265Q +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 11 +3 more	GConflicting classifications of pathogenicity
Select item 138913	NM_017909.4(RMND1):c.783C>T (p.Ile261=)	RMND1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 506866	NM_017909.4(RMND1):c.690-20C>G	RMND1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1696897	NM_017909.4(RMND1):c.661G>C (p.Gly221Arg)	RMND1 (G221R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1638280	NM_017909.4(RMND1):c.614-18G>A	RMND1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1389510	NM_017909.4(RMND1):c.526T>A (p.Phe176Ile)	RMND1 (F6I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 740377	NM_017909.4(RMND1):c.501C>T (p.Asn167=)	RMND1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 280833	NM_017909.4(RMND1):c.485del (p.Pro162fs)	RMND1 (P162fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1366720	NM_017909.4(RMND1):c.260G>A (p.Arg87His)	RMND1 (R87H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1517535	NM_017909.4(RMND1):c.257C>T (p.Ala86Val)	RMND1 (A86V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 742871	NM_017909.4(RMND1):c.201C>A (p.Ile67=)	RMND1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1395019	NM_017909.4(RMND1):c.188A>G (p.Asn63Ser)	RMND1 (N63S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1372631	NM_017909.4(RMND1):c.68G>A (p.Arg23Gln)	RMND1 (R23Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Items: 23