ClinVar (all) for Orgtrack (Select 508304) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2446709	NM_001330618.2(ZFTRAF1):c.1162_1163del (p.Leu388fs)	ZFTRAF1, TMEM276-ZFTRAF1 (L258fs +3 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	GLikely pathogenic
Select item 2446444	NM_001330618.2(ZFTRAF1):c.1085_1086del (p.Phe362fs)	ZFTRAF1, TMEM276-ZFTRAF1 (F232fs +3 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	GPathogenic
Select item 2446443	NM_001330618.2(ZFTRAF1):c.612-2A>C	ZFTRAF1, TMEM276-ZFTRAF1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	GPathogenic
Select item 1676324	NM_001320.7(CSNK2B):c.94G>C (p.Asp32His)	CSNK2B (D32H)	Single nucleotide variant	Intellectual disability-craniodigital syndrome	GPathogenic
Select item 1676313	NM_001320.7(CSNK2B):c.374C>G (p.Ser125Ter)	CSNK2B (S125*)	Single nucleotide variant	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 1319981	NM_016269.5(LEF1):c.66GAT[3] (p.Met23dup)	LEF1, LEF1-AS1	Microsatellite (inframe_insertion +1 more)	Ectrodactyly and ectodermal dysplasia without cleft lip/palate	GPathogenic
Select item 1300174	NM_000334.4(SCN4A):c.4679C>T (p.Pro1560Leu)	GH-LCR, SCN4A (P1560L)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GUncertain significance
Select item 684517	NM_001320.7(CSNK2B):c.367+5del	CSNK2B	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 520596	NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)	CSNK2B (D32N)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome +4 more	GConflicting classifications of pathogenicity