ClinVar for MedGen (Select 337956) - ClinVar - NCBI

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

Links from MedGen

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376504	CCDC88A, 4-BP DEL, 1795ACAA	CCDC88A	Deletion	PEHO-like syndrome	GPathogenic
Select item 3376503	CCDC88A, TRP431TER	CCDC88A	Single nucleotide variant	PEHO-like syndrome	GPathogenic
Select item 2439807	NM_001365480.1(CCDC88A):c.1340A>G (p.Gln447Arg)	CCDC88A (Q447R)	Single nucleotide variant (missense variant)	PEHO-like syndrome	GUncertain significance
Select item 2439806	NM_001365480.1(CCDC88A):c.432A>C (p.Arg144Ser)	CCDC88A (R144S)	Single nucleotide variant (missense variant)	PEHO-like syndrome	GUncertain significance
Select item 1683539	NM_001365480.1(CCDC88A):c.3580G>A (p.Glu1194Lys)	CCDC88A (E1193K +1 more)	Single nucleotide variant (missense variant)	PEHO-like syndrome	GUncertain significance
Select item 1534144	NM_001365480.1(CCDC88A):c.403-7A>G	CCDC88A	Single nucleotide variant (intron variant)	PEHO-like syndrome +1 more	GBenign/Likely benign
Select item 1435609	NM_001365480.1(CCDC88A):c.4161_4162dup (p.Pro1388fs)	CCDC88A (P1387fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1365714	NM_001365480.1(CCDC88A):c.1942del (p.Lys647_Ile648insTer)	CCDC88A	Deletion (nonsense)	not provided	GPathogenic
Select item 1351927	NM_001365480.1(CCDC88A):c.2603C>T (p.Thr868Ile)	CCDC88A (T868I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347598	NM_001365480.1(CCDC88A):c.543G>A (p.Met181Ile)	CCDC88A (M181I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1192543	NM_001365480.1(CCDC88A):c.800+31T>A	CCDC88A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192542	NM_001365480.1(CCDC88A):c.4744+85T>G	CCDC88A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192541	NM_001365480.1(CCDC88A):c.4745-53C>T	CCDC88A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1170918	NM_001365480.1(CCDC88A):c.344-9C>T	CCDC88A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167007	NM_001365480.1(CCDC88A):c.882+20G>A	CCDC88A	Single nucleotide variant (intron variant)	PEHO-like syndrome +1 more	GBenign
Select item 1033728	NM_001365480.1(CCDC88A):c.3263G>C (p.Arg1088Thr)	CCDC88A (R1088T +1 more)	Single nucleotide variant (missense variant)	PEHO-like syndrome	GUncertain significance
Select item 253149	NM_001365480.1(CCDC88A):c.2315del (p.Thr771_Leu772insTer)	CCDC88A	Deletion (nonsense)	PEHO-like syndrome	GPathogenic