"GeneDx"[submitter] AND "LOC130067862"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 57701	GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	ACR, ADM2 +211 more	Copy number loss	See cases	GPathogenic
Select item 57704	GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 151373	GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	ACR, ADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 215345	NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg)	LOC130067862, SCO2 +1 more (P480R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817030	NM_001953.5(TYMP):c.1416del (p.Phe473fs)	LOC130067862, SCO2 +1 more (F478fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 130693	NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)	LOC130067862, SCO2 +1 more (S471L +1 more)	Single nucleotide variant (missense variant +1 more)	Fatal Infantile Cardioencephalomyopathy +3 more	GBenign
Select item 223011	NM_001953.5(TYMP):c.1401C>T (p.Phe467=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 137878	NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr)	LOC130067862, SCO2 +1 more (A465T +1 more)	Single nucleotide variant (missense variant +1 more)	Fatal Infantile Cardioencephalomyopathy +3 more	GBenign/Likely benign
Select item 384577	NM_001953.5(TYMP):c.1389C>T (p.Asp463=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 215341	NM_001953.5(TYMP):c.1321C>T (p.His441Tyr)	LOC130067862, SCO2 +1 more (H441Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 422017	NM_001953.5(TYMP):c.1301-12dup	LOC130067862, SCO2 +1 more	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1203795	NM_001953.5(TYMP):c.1301-35G>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187223	NM_001953.5(TYMP):c.1300+28C>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713848	NM_001953.5(TYMP):c.1295G>A (p.Arg432His)	LOC130067862, SCO2 +1 more (R432H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 137877	NM_001953.5(TYMP):c.1290G>A (p.Arg430=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1315419	NM_001953.5(TYMP):c.1286A>T (p.Gln429Leu)	LOC130067862, SCO2 +1 more (Q429L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3343506	NM_001953.5(TYMP):c.1283_1284delinsAA (p.Gly428Glu)	LOC130067862, SCO2 +1 more (G428E +1 more)	Indel (missense variant +2 more)	not provided	GLikely pathogenic
Select item 137876	NM_001953.5(TYMP):c.1284T>A (p.Gly428=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +4 more	GBenign
Select item 669173	NM_001953.5(TYMP):c.1266G>A (p.Glu422=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 764487	NM_001953.5(TYMP):c.1242G>A (p.Pro414=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 215340	NM_001953.5(TYMP):c.1219G>C (p.Gly407Arg)	LOC130067862, SCO2 +1 more (G407R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 215339	NM_001953.5(TYMP):c.1219G>A (p.Gly407Arg)	SCO2, TYMP +1 more (G407R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1165426	NM_001953.5(TYMP):c.1185G>A (p.Leu395=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 342137	NM_001953.5(TYMP):c.1176C>T (p.Val392=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 215326	NM_001953.5(TYMP):c.1170G>C (p.Glu390Asp)	LOC130067862, SCO2 +1 more (E390D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1290552	NM_001953.5(TYMP):c.1160-29C>G	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673707	NM_001953.5(TYMP):c.1160-48G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516843	NM_001953.5(TYMP):c.1159+18C>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 137875	NM_001953.5(TYMP):c.1159+12G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 215344	NM_001953.5(TYMP):c.1159+5G>A	SCO2, TYMP +1 more	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 1 +2 more	GUncertain significance
Select item 3338737	NM_001953.5(TYMP):c.1145T>C (p.Leu382Pro)	LOC130067862, SCO2 +1 more (L382P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305829	NM_001953.5(TYMP):c.1142T>G (p.Leu381Arg)	LOC130067862, SCO2 +1 more (L381R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 215325	NM_001953.5(TYMP):c.1127G>A (p.Arg376Gln)	LOC130067862, SCO2 +1 more (R376Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2504710	NM_001953.5(TYMP):c.1110G>T (p.Gln370His)	LOC130067862, SCO2 +1 more (Q370H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 215338	NM_001953.5(TYMP):c.1087G>A (p.Gly363Arg)	SCO2, TYMP +1 more (G363R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 137874	NM_001953.5(TYMP):c.1074A>G (p.Arg358=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 378841	NM_001953.5(TYMP):c.1071C>T (p.Ala357=)	TYMP, LOC130067862 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 426794	NM_001953.5(TYMP):c.1030G>C (p.Glu344Gln)	LOC130067862, SCO2 +1 more (E344Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 130694	NM_001953.5(TYMP):c.972C>T (p.Ala324=)	TYMP, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	Fatal Infantile Cardioencephalomyopathy +4 more	GBenign
Select item 1262056	NM_001953.5(TYMP):c.970G>T (p.Ala324Ser)	LOC130067862, SCO2 +1 more (A324S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 215324	NM_001953.4(TYMP):c.929-6_929-3del	LOC130067862, SCO2 +1 more	Microsatellite (intron variant)	Mitochondrial DNA depletion syndrome 1 +4 more	GBenign/Likely benign
Select item 515986	NM_001953.5(TYMP):c.929-16C>T	LOC130067862, TYMP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 507882	NM_001953.5(TYMP):c.928+3G>A	LOC130067862, TYMP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 749726	NM_001953.5(TYMP):c.910G>A (p.Asp304Asn)	LOC130067862, TYMP (D304N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 215337	NM_001953.5(TYMP):c.895C>A (p.Pro299Thr)	LOC130067862, TYMP (P299T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 46