ClinVar for MedGen (Select 862776) - ClinVar - NCBI

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

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233412	NM_014171.6(CRIPT):c.227G>A (p.Cys76Tyr)	CRIPT (C76Y)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome, type 3	GPathogenic
Select item 1704565	NC_000002.11:g.(?_46844310)_(46844438_46845911)del	CRIPT	Deletion	Rothmund-Thomson syndrome, type 3	GLikely pathogenic
Select item 1343340	NM_014171.6(CRIPT):c.7_8del (p.Cys3fs)	CRIPT (C3fs)	Microsatellite (frameshift variant)	Rothmund-Thomson syndrome, type 3	GPathogenic
Select item 1029251	NM_014171.6(CRIPT):c.242-19A>T	CRIPT	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome, type 3	GUncertain significance
Select item 976761	NM_014171.6(CRIPT):c.132del (p.Ala45fs)	CRIPT (A45fs)	Deletion (frameshift variant)	Rothmund-Thomson syndrome, type 3	GPathogenic
Select item 625543	GRCh37/hg19 2p21(chr2:46844284-46844565)	CRIPT	Copy number loss	Rothmund-Thomson syndrome, type 3	GPathogenic
Select item 221619	NM_014171.5(CRIPT):c.-422_17-582del	CRIPT, PIGF	Deletion	Rothmund-Thomson syndrome, type 3	GPathogenic
Select item 221618	NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr)	CRIPT (C3Y)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome, type 3	GLikely pathogenic
Select item 127250	NM_014171.6(CRIPT):c.141del (p.Phe47fs)	CRIPT (F47fs)	Deletion (frameshift variant)	Ateleiotic dwarfism +1 more	GPathogenic
Select item 127249	NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs)	CRIPT (A45fs)	Insertion (frameshift variant)	Ateleiotic dwarfism +1 more	GPathogenic