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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCTD1
(P20T +2 more)
Single nucleotide variant
(missense variant)
Scalp-ear-nipple syndrome
GUncertain significance
KCTD1
(S187L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCTD1
Single nucleotide variant
(synonymous variant)
Scalp-ear-nipple syndrome
+1 more
GBenign/Likely benign
KCTD1
(P20S +2 more)
Single nucleotide variant
(missense variant)
Scalp-ear-nipple syndrome
GPathogenic
KCTD1
(D69E +2 more)
Single nucleotide variant
(missense variant)
Scalp-ear-nipple syndrome
GPathogenic
KCTD1
(G62D +2 more)
Single nucleotide variant
(missense variant)
Scalp-ear-nipple syndrome
GLikely pathogenic
KCTD1
(H74P +2 more)
Single nucleotide variant
(missense variant)
Scalp-ear-nipple syndrome
GPathogenic
KCTD1
(H33P +2 more)
Single nucleotide variant
(missense variant)
Scalp-ear-nipple syndrome
GPathogenic
KCTD1
(H33Q +2 more)
Single nucleotide variant
(missense variant)
Scalp-ear-nipple syndrome
GPathogenic
KCTD1
(P31H +2 more)
Single nucleotide variant
(missense variant)
Scalp-ear-nipple syndrome
GPathogenic
KCTD1
(P31L +2 more)
Single nucleotide variant
(missense variant)
Scalp-ear-nipple syndrome
GPathogenic
KCTD1
(P31R +2 more)
Single nucleotide variant
(missense variant)
Scalp-ear-nipple syndrome
GPathogenic
KCTD1
(A30E +2 more)
Single nucleotide variant
(missense variant)
Scalp-ear-nipple syndrome
GPathogenic
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