ClinVar for MedGen (Select 342798) - ClinVar - NCBI

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

Links from MedGen

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442006	NM_001983.4(ERCC1):c.467G>A (p.Arg156Gln)	ERCC1 (R156Q)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 4	GUncertain significance
Select item 1683582	NM_001983.4(ERCC1):c.231del (p.Thr78fs)	ERCC1 (T78fs)	Deletion (frameshift variant)	Cerebrooculofacioskeletal syndrome 4	GLikely pathogenic
Select item 1322828	NM_001983.4(ERCC1):c.121C>T (p.Arg41Ter)	ERCC1 (R41*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 708637	NM_001983.4(ERCC1):c.191C>T (p.Ala64Val)	ERCC1 (A64V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 638523	NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro)	ERCC1 (S267P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 592147	NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)	ERCC1 (A266T +1 more)	Single nucleotide variant (missense variant)	ERCC1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 329534	NM_001983.4(ERCC1):c.843+32G>A	ERCC1 (W292* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GBenign
Select item 235480	NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala)	ERCC1, POLR1G (T282A +1 more)	Single nucleotide variant (missense variant +1 more)	ERCC1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 225348	NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter)	ERCC1 (E62*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 4	GLikely pathogenic
Select item 16778	NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)	ERCC1 (F231L)	Single nucleotide variant (missense variant)	Cerebrooculofacioskeletal syndrome 4	GPathogenic
Select item 16777	NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter)	ERCC1 (Q158*)	Single nucleotide variant (nonsense)	Cerebrooculofacioskeletal syndrome 4	GPathogenic