ClinVar for MedGen (Select 316921) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442156	NM_001793.6(CDH3):c.958G>A (p.Asp320Asn)	CDH3 (D265N +1 more)	Single nucleotide variant (missense variant)	Congenital hypotrichosis with juvenile macular dystrophy +1 more	GUncertain significance
Select item 1459147	NM_001793.6(CDH3):c.1086G>A (p.Trp362Ter)	CDH3 (W307* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1454138	NM_001793.6(CDH3):c.661C>T (p.Arg221Ter)	CDH3 (R221* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1402815	NM_001793.6(CDH3):c.475G>A (p.Ala159Thr)	CDH3 (A159T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1322049	NM_001793.6(CDH3):c.160+1G>A	CDH3, CDH3-AS1	Single nucleotide variant (splice donor variant +1 more)	Congenital hypotrichosis with juvenile macular dystrophy +1 more	GPathogenic
Select item 1192714	NM_001793.6(CDH3):c.2281-45A>C	CDH3 (R778S)	Single nucleotide variant (missense variant +1 more)	Congenital hypotrichosis with juvenile macular dystrophy +2 more	GBenign
Select item 1192667	NM_001793.6(CDH3):c.160+117G>A	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	EEM syndrome +2 more	GBenign
Select item 1054147	NM_001793.6(CDH3):c.1199C>G (p.Ala400Gly)	CDH3 (A345G +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +2 more	GUncertain significance
Select item 884849	NM_001793.6(CDH3):c.1808T>C (p.Val603Ala)	CDH3 (V548A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 800872	NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly)	CDH3 (C585G +1 more)	Single nucleotide variant (missense variant)	Congenital hypotrichosis with juvenile macular dystrophy	GLikely pathogenic
Select item 677217	NM_001793.6(CDH3):c.247-38A>G	CDH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 677162	NM_001793.6(CDH3):c.390+37T>C	CDH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 666276	NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr)	CDH3 (D300Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 666275	NM_001793.6(CDH3):c.1795+1G>C	CDH3	Single nucleotide variant (splice donor variant)	Congenital hypotrichosis with juvenile macular dystrophy	GPathogenic
Select item 320250	NM_001793.6(CDH3):c.1956G>A (p.Lys652=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +2 more	GBenign
Select item 320243	NM_001793.6(CDH3):c.1626T>C (p.Asn542=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +2 more	GBenign
Select item 320230	NM_001793.6(CDH3):c.813C>A (p.Thr271=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 320229	NM_001793.6(CDH3):c.720G>A (p.Thr240=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 93783	NM_001793.6(CDH3):c.2239C>A (p.Arg747=)	CDH3	Single nucleotide variant (synonymous variant)	Congenital hypotrichosis with juvenile macular dystrophy +3 more	GBenign
Select item 17641	NM_001793.6(CDH3):c.830del (p.Gly277fs)	CDH3 (G222fs +1 more)	Deletion (frameshift variant)	Congenital hypotrichosis with juvenile macular dystrophy +1 more	GPathogenic
Select item 17639	NM_001793.6(CDH3):c.1508G>A (p.Arg503His)	CDH3 (R503H +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 17638	NM_001793.6(CDH3):c.981del (p.Met327fs)	CDH3 (M272fs +1 more)	Deletion (frameshift variant)	Hypotrichosis with juvenile macular dystrophy +1 more	GPathogenic

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Items: 22