C0010278[trait identifier] AND "Klinisk genetik och genomik Research, - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691918	NM_019032.6(ADAMTSL4):c.1666C>T (p.Arg556Ter)	ADAMTSL4, ADAMTSL4-AS2 (R556* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 691569	NM_019885.4(CYP26B1):c.1179G>T (p.Met393Ile)	CYP26B1 (M318I +1 more)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	GUncertain significance
Select item 691921	NM_019885.4(CYP26B1):c.74_77dup (p.Val28fs)	CYP26B1 (V28fs)	Duplication (frameshift variant)	Craniosynostosis syndrome	GUncertain significance
Select item 691922	NM_002448.3(MSX1):c.817G>A (p.Gly273Ser)	MSX1 (G273S)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 691914	NM_025132.4(WDR19):c.2720C>T (p.Ala907Val)	WDR19 (A747V +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 4 +6 more	GUncertain significance
Select item 1048586	NM_001024630.4(RUNX2):c.340G>A (p.Val114Ile)	RUNX2 (V100I +1 more)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	GUncertain significance
Select item 691924	NM_001142784.3(IL11RA):c.343C>T (p.Arg115Cys)	IL11RA (R115C)	Single nucleotide variant (missense variant +1 more)	Craniosynostosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 691917	NM_000264.5(PTCH1):c.1347+6G>T	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 691919	NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val)	PTCH1 (A247V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 222836	NM_004612.4(TGFBR1):c.222A>C (p.Glu74Asp)	TGFBR1 (E74D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 691913	NM_000138.5(FBN1):c.794C>T (p.Thr265Ile)	FBN1 (T265I)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome +1 more	GUncertain significance
Select item 691565	NM_207037.2(TCF12):c.1606del (p.Thr536fs)	TCF12 (T276fs +9 more)	Deletion (frameshift variant)	Craniosynostosis syndrome	GLikely pathogenic
Select item 691564	NM_207037.2(TCF12):c.1769del (p.Asp589_Leu590insTer)	TCF12	Deletion (nonsense)	Craniosynostosis syndrome	GLikely pathogenic
Select item 691568	NM_000875.5(IGF1R):c.580_581del (p.Lys194fs)	IGF1R (K194fs)	Deletion (frameshift variant)	Craniosynostosis syndrome	GUncertain significance
Select item 579503	NM_004655.4(AXIN2):c.1972A>T (p.Ser658Cys)	AXIN2 (S658C +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +2 more	GUncertain significance
Select item 691920	NM_006494.4(ERF):c.1300G>A (p.Glu434Lys)	ERF (E359K +1 more)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome	GUncertain significance
Select item 691916	NM_006494.4(ERF):c.383T>G (p.Val128Gly)	ERF (V128G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 691915	NM_015330.6(SPECC1L):c.1619G>A (p.Arg540His)	SPECC1L, SPECC1L-ADORA2A (R540H)	Single nucleotide variant (non-coding transcript variant +1 more)	Craniosynostosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 691567	NM_015330.6(SPECC1L):c.1915C>T (p.Arg639Ter)	SPECC1L, SPECC1L-ADORA2A (R639*)	Single nucleotide variant (non-coding transcript variant +1 more)	Craniosynostosis syndrome	GUncertain significance