ClinVar for MedGen (Select 357183) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254677	NM_001142730.3(KCTD1):c.2056G>C (p.Asp686His)	KCTD1 (D686H +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GLikely pathogenic
Select item 2433049	NM_001142730.3(KCTD1):c.1882C>A (p.Pro628Thr)	KCTD1 (P20T +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GUncertain significance
Select item 1307491	NM_001142730.3(KCTD1):c.2384C>T (p.Ser795Leu)	KCTD1 (S187L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 720931	NM_001142730.3(KCTD1):c.2181C>T (p.Pro727=)	KCTD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 235828	NM_001142730.3(KCTD1):c.1882C>T (p.Pro628Ser)	KCTD1 (P20S +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 235827	NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu)	KCTD1 (D69E +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 55888	NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp)	KCTD1 (G62D +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GLikely pathogenic
Select item 55887	NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro)	KCTD1 (H74P +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 55886	NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro)	KCTD1 (H33P +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 55885	NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln)	KCTD1 (H33Q +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 55884	NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His)	KCTD1 (P31H +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 55883	NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu)	KCTD1 (P31L +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 55882	NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg)	KCTD1 (P31R +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic
Select item 55881	NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu)	KCTD1 (A30E +2 more)	Single nucleotide variant (missense variant)	Scalp-ear-nipple syndrome	GPathogenic