C0557874[trait identifier] AND "Claritas Genomics"[submitter] - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 397631	NM_001365999.1(SZT2):c.9893G>A (p.Arg3298His)	SZT2, SZT2-AS1 (R3241H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Generalized epilepsy +2 more	GUncertain significance
Select item 397629	NM_001371986.1(UNC80):c.400G>A (p.Gly134Ser)	UNC80 (G134S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 397623	NM_001370658.1(BTD):c.164C>A (p.Ala55Asp)	BTD (A55D)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 397624	NM_021971.4(GMPPB):c.529A>G (p.Ile177Val)	GMPPB (I177V)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 374457	NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp)	SYNGAP1, SYNGAP1-AS1 (R429W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 39679	NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	DDHD2 (D660H +1 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy +5 more	GPathogenic/Likely pathogenic
Select item 281269	NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)	ARFGEF1-DT, CPA6 (G267R)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 5 +4 more	GConflicting classifications of pathogenicity
Select item 393467	NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)	CPA6 (Q207E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 11985	NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	GLDC (R515S)	Single nucleotide variant (missense variant)	GLDC-related condition +5 more	GPathogenic
Select item 203960	NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu)	SUCLA2 (S79L)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +4 more	GConflicting classifications of pathogenicity
Select item 397628	NM_024570.4(RNASEH2B):c.136+8C>T	RNASEH2B	Single nucleotide variant (intron variant)	Global developmental delay +1 more	GConflicting classifications of pathogenicity
Select item 397626	NM_004667.6(HERC2):c.12757G>A (p.Ala4253Thr)	HERC2 (A4253T)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GUncertain significance
Select item 206608	NM_002693.3(POLG):c.1270_1271del (p.Leu424fs)	POLG, POLGARF (L424fs)	Microsatellite (frameshift variant)	Generalized epilepsy +4 more	GPathogenic
Select item 397625	NM_001134407.3(GRIN2A):c.1778-3C>T	GRIN2A	Single nucleotide variant (intron variant)	Global developmental delay	GUncertain significance
Select item 397630	NM_016373.4(WWOX):c.1222C>G (p.Arg408Gly)	MAF, WWOX (R408G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 397622	NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)	ACSF3 (R11C)	Single nucleotide variant (missense variant +2 more)	Global developmental delay +1 more	GUncertain significance
Select item 397627	NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)	PCNT (C215Y +1 more)	Single nucleotide variant (missense variant)	PCNT-related condition +4 more	GConflicting classifications of pathogenicity