ClinVar for MedGen (Select 333324) - ClinVar

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

Links from MedGen

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254884	NM_005676.5(RBM10):c.579_586dup (p.Asn196fs)	RBM10 (N119fs +2 more)	Duplication (frameshift variant)	TARP syndrome	GPathogenic
Select item 2671930	NM_005676.5(RBM10):c.2100+1G>A	RBM10	Single nucleotide variant (splice donor variant)	TARP syndrome	GLikely pathogenic
Select item 2505113	NM_005676.5(RBM10):c.121_124dup (p.Arg42fs)	RBM10 (R107fs +1 more)	Duplication (frameshift variant)	TARP syndrome	Gnot provided
Select item 2435381	NM_005676.5(RBM10):c.995G>A (p.Arg332His)	RBM10 (R255H +2 more)	Single nucleotide variant (missense variant)	TARP syndrome	GUncertain significance
Select item 2435380	NM_005676.5(RBM10):c.856G>A (p.Ala286Thr)	RBM10, LOC126863252 (A209T +2 more)	Single nucleotide variant (missense variant)	TARP syndrome	GUncertain significance
Select item 2429214	NM_005676.5(RBM10):c.331C>T (p.Gln111Ter)	RBM10 (Q111* +1 more)	Single nucleotide variant (nonsense +1 more)	TARP syndrome	GLikely pathogenic
Select item 1806258	NM_005676.5(RBM10):c.1974G>C (p.Trp658Cys)	RBM10 (W580C +4 more)	Single nucleotide variant (missense variant)	TARP syndrome	GLikely pathogenic
Select item 1806104	NM_005676.5(RBM10):c.1993_1996del (p.Gln665fs)	RBM10 (Q587fs +4 more)	Microsatellite (frameshift variant)	TARP syndrome	GPathogenic
Select item 1700155	NM_005676.5(RBM10):c.292C>T (p.Arg98Ter)	RBM10 (R163* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1699224	NM_005676.5(RBM10):c.373G>T (p.Glu125Ter)	RBM10 (E125* +1 more)	Single nucleotide variant (nonsense +1 more)	TARP syndrome	GPathogenic
Select item 1697973	NM_005676.5(RBM10):c.2326C>T (p.Arg776Trp)	RBM10 (R698W +4 more)	Single nucleotide variant (missense variant)	TARP syndrome	GLikely pathogenic
Select item 1333475	NM_005676.5(RBM10):c.2514C>G (p.Tyr838Ter)	RBM10 (Y760* +4 more)	Single nucleotide variant (nonsense)	TARP syndrome	GLikely pathogenic
Select item 1323521	NM_005676.5(RBM10):c.1722C>G (p.Tyr574Ter)	RBM10 (Y496* +4 more)	Single nucleotide variant (nonsense)	TARP syndrome	GPathogenic
Select item 1206235	NM_005676.5(RBM10):c.1891G>C (p.Ala631Pro)	RBM10 (A553P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1030008	NM_005676.5(RBM10):c.1476G>T (p.Ser492=)	RBM10	Single nucleotide variant (synonymous variant)	TARP syndrome	GUncertain significance
Select item 986344	NM_005676.5(RBM10):c.117_132del (p.Met39fs)	RBM10 (M104fs +1 more)	Deletion (frameshift variant)	TARP syndrome	GLikely pathogenic
Select item 977462	NM_005676.5(RBM10):c.1804_1805del (p.Ser602fs)	RBM10 (S524fs +4 more)	Microsatellite (frameshift variant)	TARP syndrome	GPathogenic
Select item 976116	NM_005676.5(RBM10):c.396dup (p.Leu133fs)	RBM10 (L133fs +1 more)	Duplication (frameshift variant +1 more)	TARP syndrome	GLikely pathogenic
Select item 871200	NM_005676.5(RBM10):c.2296C>T (p.Arg766Cys)	RBM10 (R765C +4 more)	Single nucleotide variant (missense variant)	TARP syndrome +1 more	GLikely pathogenic
Select item 689781	NM_005676.5(RBM10):c.724+2T>C	LOC126863252, RBM10	Single nucleotide variant (splice donor variant)	TARP syndrome	GPathogenic
Select item 625791	GRCh37/hg19 Xp11.23(chrX:47039376-47040521)	RBM10	Copy number loss	TARP syndrome	GPathogenic
Select item 436516	NM_005676.5(RBM10):c.1249-1G>A	RBM10	Single nucleotide variant (splice acceptor variant)	TARP syndrome	GPathogenic
Select item 433146	NM_005676.5(RBM10):c.159del (p.Lys54fs)	RBM10 (K54fs +1 more)	Deletion (frameshift variant)	TARP syndrome	GPathogenic
Select item 137613	NM_005676.5(RBM10):c.448C>T (p.Gln150Ter)	RBM10 (Q150* +2 more)	Single nucleotide variant (nonsense)	TARP syndrome	GPathogenic
Select item 11644	NM_005676.5(RBM10):c.1235G>A (p.Trp412Ter)	RBM10 (W412* +4 more)	Single nucleotide variant (nonsense)	TARP syndrome	GPathogenic
Select item 11643	NM_005676.5(RBM10):c.1893dup (p.Pro632fs)	RBM10 (P697fs +4 more)	Duplication (frameshift variant)	TARP syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 26