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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC22
(P95L)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(R64G)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(R181Q)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(L621R)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(L334V)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(V501M)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(A537G)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(P187S)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(R128W)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(Q184H)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(E408K)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(A618P)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(V325F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CCDC22
(A48T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CCDC22
(R107C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CCDC22
(E208K)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GConflicting classifications of pathogenicity
CCDC22
Single nucleotide variant
(stop lost)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(M1T)
Single nucleotide variant
(missense variant +1 more)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(R625W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CCDC22
(T577I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CCDC22
(R128Q)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(R448L)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(A537V)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(A37V)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(P172R)
Indel
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(R623W)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GUncertain significance
CCDC22
(A463G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CCDC22
(R66H)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
+1 more
GUncertain significance
CCDC22
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome 2
+1 more
GBenign
CCDC22
(Y557C)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GPathogenic
CCDC22
(T17A)
Single nucleotide variant
(missense variant)
Ritscher-Schinzel syndrome 2
GPathogenic
CCDC22
Single nucleotide variant
(intron variant)
Ritscher-Schinzel syndrome 2
+2 more
GBenign/Likely benign
CCDC22
Single nucleotide variant
(no sequence alteration)
Ritscher-Schinzel syndrome 2
+1 more
GBenign
CCDC22
(A430T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
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