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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 58253	GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3	CCDC169, CCDC169-SOHLH2 +53 more	Copy number gain	See cases	GUncertain significance
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 409264	NM_015087.5(SPART):c.1939G>A (p.Val647Met)	SPART (V647M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1056084	NM_015087.5(SPART):c.1930A>G (p.Asn644Asp)	SPART (N644D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512598	NM_015087.5(SPART):c.1769C>T (p.Ala590Val)	SPART (A590V)	Single nucleotide variant (missense variant)	Troyer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1189440	NM_015087.5(SPART):c.1734-158C>T	SPART	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219583	NM_015087.5(SPART):c.1733+164C>T	SPART	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237264	NM_015087.5(SPART):c.1733+112G>C	SPART	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179290	NM_015087.5(SPART):c.1733+67A>G	SPART	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 695814	NM_015087.5(SPART):c.1689C>T (p.Ile563=)	SPART	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 130368	NM_015087.5(SPART):c.1629A>G (p.Ala543=)	SPART	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 3343444	NM_015087.5(SPART):c.1615A>G (p.Met539Val)	SPART (M539V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215017	NM_015087.5(SPART):c.1483+75T>C	SPART	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379832	NM_015087.5(SPART):c.1369C>T (p.Arg457Ter)	SPART (R457*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1306859	NM_015087.5(SPART):c.1354G>C (p.Gly452Arg)	SPART (G452R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216629	NM_015087.5(SPART):c.1289-73A>T	SPART	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326422	NM_015087.5(SPART):c.1289-163G>T	SPART	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295554	NM_015087.5(SPART):c.1288+212C>T	SPART	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 216687	NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)	SPART (D391G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1200161	NM_015087.5(SPART):c.1165-311T>C	SPART	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392586	NM_015087.5(SPART):c.1139G>A (p.Arg380His)	SPART (R380H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3457	NM_015087.5(SPART):c.1110del (p.Lys370fs)	SPART (K370fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1307563	NM_015087.5(SPART):c.1028A>C (p.Glu343Ala)	SPART (E343A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 252689	NM_015087.5(SPART):c.928G>A (p.Val310Ile)	SPART (V310I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 450101	NM_015087.5(SPART):c.862T>C (p.Cys288Arg)	SPART (C288R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1878642	NM_015087.5(SPART):c.696dup (p.Val233fs)	SPART (V233fs)	Duplication (frameshift variant)	Troyer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 419124	NM_015087.5(SPART):c.696del (p.Phe232fs)	SPART (F232fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3458	NM_015087.5(SPART):c.364_365del (p.Met122fs)	SPART (M122fs)	Deletion (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 380930	NM_015087.5(SPART):c.363C>T (p.Asp121=)	SPART	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 216688	NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)	SPART (D121Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 215884	NM_015087.5(SPART):c.75A>G (p.Leu25=)	SPART	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 424442	NM_015087.5(SPART):c.68C>A (p.Ala23Asp)	SPART (A23D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269015	NM_015087.5(SPART):c.-2-282A>G	SPART	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526322	NM_015087.5(SPART):c.-2-774T>C	SPART	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295557	NM_015087.5(SPART):c.-3+215T>C	SPART	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1343847	NM_015087.5(SPART):c.-3+170C>A	SPART	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326191	NM_015087.5(SPART):c.-3+39G>T	SPART	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512580	NM_015087.5(SPART):c.-8G>A	SPART	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 311774	NM_015087.5(SPART):c.-145G>A	SPART	Single nucleotide variant (5 prime UTR variant +1 more)	Troyer syndrome +1 more	GBenign/Likely benign
Select item 311776	NM_015087.4(SPART):c.-253G>A	SPART, SPART-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Troyer syndrome +1 more	GBenign/Likely benign
Select item 1526321	NM_001142295.1(SPART):c.-202G>C	SPART, SPART-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526320	NM_001142294.2(SPART):c.-51G>A	SPART	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 3361914	NM_015087.5(SPART):c.511C>A (p.Pro171Thr)	SPART (P171T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45