ClinVar for MedGen (Select 341679) - ClinVar - NCBI

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	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 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 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 930688	NM_001793.6(CDH3):c.2087del (p.Asp696fs)	CDH3 (D641fs +1 more)	Deletion (frameshift variant)	EEM syndrome	GLikely pathogenic
Select item 888066	NM_001793.6(CDH3):c.*149G>T	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 888065	NM_001793.6(CDH3):c.*142C>T	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GLikely benign
Select item 888064	NM_001793.6(CDH3):c.*87G>T	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 888063	NM_001793.6(CDH3):c.*3G>T	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 888062	NM_001793.6(CDH3):c.*2C>T	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 887979	NM_001793.6(CDH3):c.1632T>G (p.His544Gln)	CDH3 (H544Q +1 more)	Single nucleotide variant (missense variant)	EEM syndrome	GUncertain significance
Select item 887928	NM_001793.6(CDH3):c.820C>T (p.Arg274Trp)	CDH3 (R274W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 887927	NM_001793.6(CDH3):c.798C>T (p.His266=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886787	NM_001793.6(CDH3):c.2340C>T (p.Phe780=)	CDH3	Single nucleotide variant (3 prime UTR variant +1 more)	EEM syndrome	GUncertain significance
Select item 886786	NM_001793.6(CDH3):c.2251C>A (p.Pro751Thr)	CDH3 (P696T +1 more)	Single nucleotide variant (missense variant)	EEM syndrome	GUncertain significance
Select item 886725	NM_001793.6(CDH3):c.1284G>A (p.Val428=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome	GUncertain significance
Select item 886674	NM_001793.6(CDH3):c.654C>T (p.Asp218=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 886673	NM_001793.6(CDH3):c.651G>C (p.Gln217His)	CDH3 (Q162H +1 more)	Single nucleotide variant (missense variant)	EEM syndrome	GUncertain significance
Select item 886672	NM_001793.6(CDH3):c.547-12T>C	CDH3	Single nucleotide variant (intron variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 886671	NM_001793.6(CDH3):c.324T>C (p.Asp108=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 885852	NM_001793.6(CDH3):c.*535G>A	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 885775	NM_001793.6(CDH3):c.2227A>G (p.Met743Val)	CDH3 (M743V +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +1 more	GUncertain significance
Select item 885774	NM_001793.6(CDH3):c.2115G>A (p.Gly705=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 885773	NM_001793.6(CDH3):c.2061C>T (p.Leu687=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 885720	NM_001793.6(CDH3):c.1221C>T (p.Tyr407=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 885719	NM_001793.6(CDH3):c.1119C>T (p.Asp373=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome	GUncertain significance
Select item 885718	NM_001793.6(CDH3):c.1050G>A (p.Thr350=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 885661	NM_001793.6(CDH3):c.109A>T (p.Thr37Ser)	CDH3, CDH3-AS1 (T37S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 885660	NM_001793.6(CDH3):c.46-11C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	EEM syndrome	GUncertain significance
Select item 885659	NM_001793.6(CDH3):c.45+6C>T	CDH3, CDH3-AS1	Single nucleotide variant (intron variant)	EEM syndrome +1 more	GUncertain significance
Select item 885658	NM_001793.6(CDH3):c.34C>T (p.Leu12Phe)	CDH3, CDH3-AS1 (L12F)	Single nucleotide variant (missense variant +1 more)	EEM syndrome +2 more	GUncertain significance
Select item 884930	NM_001793.6(CDH3):c.*523G>A	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 884929	NM_001793.6(CDH3):c.*195G>T	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome +1 more	GBenign/Likely benign
Select item 884928	NM_001793.6(CDH3):c.*180G>C	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	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 884780	NM_001793.6(CDH3):c.996+13C>T	CDH3	Single nucleotide variant (intron variant)	EEM syndrome +1 more	GBenign/Likely benign
Select item 884779	NM_001793.6(CDH3):c.909G>T (p.Met303Ile)	CDH3 (M248I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884778	NM_001793.6(CDH3):c.854G>T (p.Gly285Val)	CDH3 (G230V +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +1 more	GUncertain significance
Select item 842854	NM_001793.6(CDH3):c.2362G>A (p.Asp788Asn)	CDH3 (D788N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 757397	NM_001793.6(CDH3):c.1984G>A (p.Ala662Thr)	CDH3 (A607T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 739418	NM_001793.6(CDH3):c.2469C>T (p.Tyr823=)	CDH3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 731369	NM_001793.6(CDH3):c.141C>G (p.Pro47=)	CDH3-AS1, CDH3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 707957	NM_001793.6(CDH3):c.2058C>T (p.Pro686=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GBenign/Likely benign
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 597729	NM_001793.6(CDH3):c.918C>T (p.Asp306=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 522709	NM_001793.6(CDH3):c.2305C>A (p.Pro769Thr)	CDH3 (P769T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	EEM syndrome	GUncertain significance
Select item 499468	NM_001793.6(CDH3):c.1652G>A (p.Arg551His)	CDH3 (R551H +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +1 more	GUncertain significance
Select item 499462	NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys)	CDH3 (R363C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 444373	NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser)	CDH3 (G786S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 320263	NM_001793.6(CDH3):c.*595G>A	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 320262	NM_001793.6(CDH3):c.*529G>A	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 320261	NM_001793.6(CDH3):c.*498G>A	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 320260	NM_001793.6(CDH3):c.*485A>G	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GLikely benign
Select item 320259	NM_001793.6(CDH3):c.*405G>A	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 320258	NM_001793.6(CDH3):c.*154G>T	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome +1 more	GBenign
Select item 320257	NM_001793.6(CDH3):c.*87G>C	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 320256	NM_001793.6(CDH3):c.2484C>T (p.Asp828=)	CDH3	Single nucleotide variant (3 prime UTR variant +1 more)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 320255	NM_001793.6(CDH3):c.2444G>A (p.Arg815His)	CDH3 (R815H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	EEM syndrome	GUncertain significance
Select item 320254	NM_001793.6(CDH3):c.2419G>A (p.Asp807Asn)	CDH3 (D807N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	EEM syndrome +1 more	GUncertain significance
Select item 320253	NM_001793.6(CDH3):c.2361C>T (p.Ser787=)	CDH3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320252	NM_001793.6(CDH3):c.2280+7C>T	CDH3	Single nucleotide variant (intron variant)	EEM syndrome +1 more	GBenign/Likely benign
Select item 320251	NM_001793.6(CDH3):c.2070A>G (p.Pro690=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome	GUncertain significance
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 320249	NM_001793.6(CDH3):c.1932C>T (p.Val644=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 320248	NM_001793.6(CDH3):c.1848C>T (p.Asp616=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 320247	NM_001793.6(CDH3):c.1796-11G>T	CDH3	Single nucleotide variant (intron variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 320246	NM_001793.6(CDH3):c.1740G>C (p.Gln580His)	CDH3 (Q580H +1 more)	Single nucleotide variant (missense variant)	EEM syndrome	GUncertain significance
Select item 320245	NM_001793.6(CDH3):c.1689G>C (p.Gln563His)	CDH3 (Q563H +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +1 more	GBenign
Select item 320244	NM_001793.6(CDH3):c.1681G>A (p.Val561Met)	CDH3 (V561M +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
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 320242	NM_001793.6(CDH3):c.1593G>A (p.Thr531=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320241	NM_001793.6(CDH3):c.1571-7C>G	CDH3	Single nucleotide variant (intron variant)	EEM syndrome +1 more	GUncertain significance
Select item 320240	NM_001793.6(CDH3):c.1430G>A (p.Arg477His)	CDH3 (R477H +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +1 more	GBenign
Select item 320239	NM_001793.6(CDH3):c.1339G>A (p.Val447Ile)	CDH3 (V447I +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +1 more	GUncertain significance
Select item 320238	NM_001793.6(CDH3):c.1257G>A (p.Lys419=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GBenign
Select item 320237	NM_001793.6(CDH3):c.1240G>A (p.Ala414Thr)	CDH3 (A414T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 320236	NM_001793.6(CDH3):c.1183-12C>T	CDH3	Single nucleotide variant (intron variant)	EEM syndrome	GUncertain significance
Select item 320235	NM_001793.6(CDH3):c.1178G>A (p.Arg393Lys)	CDH3 (R393K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320234	NM_001793.6(CDH3):c.1043G>A (p.Arg348Lys)	CDH3 (R348K +1 more)	Single nucleotide variant (missense variant)	EEM syndrome	GUncertain significance
Select item 320233	NM_001793.6(CDH3):c.1011G>C (p.Val337=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320232	NM_001793.6(CDH3):c.886C>G (p.Leu296Val)	CDH3 (L296V +1 more)	Single nucleotide variant (missense variant)	EEM syndrome	GUncertain significance
Select item 320231	NM_001793.6(CDH3):c.867+6T>C	CDH3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 320228	NM_001793.6(CDH3):c.691G>C (p.Gly231Arg)	CDH3 (G231R +1 more)	Single nucleotide variant (missense variant)	EEM syndrome	GUncertain significance
Select item 320227	NM_001793.6(CDH3):c.612C>A (p.Ile204=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 320226	NM_001793.6(CDH3):c.390+5G>A	CDH3	Single nucleotide variant (intron variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 320225	NM_001793.6(CDH3):c.318G>A (p.Lys106=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320224	NM_001793.6(CDH3):c.166A>G (p.Met56Val)	CDH3 (M56V +1 more)	Single nucleotide variant (missense variant +1 more)	EEM syndrome +1 more	GUncertain significance
Select item 320223	NM_001793.6(CDH3):c.100G>A (p.Ala34Thr)	CDH3, CDH3-AS1 (A34T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 320222	NM_001793.6(CDH3):c.-11T>C	CDH3, CDH3-AS1	Single nucleotide variant (5 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 320221	NM_001793.6(CDH3):c.-36C>T	CDH3, CDH3-AS1	Single nucleotide variant (5 prime UTR variant)	EEM syndrome	GUncertain significance
Select item 320220	NM_001793.5(CDH3):c.-72T>C	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320219	NM_001793.5(CDH3):c.-140G>T	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320218	NM_001793.5(CDH3):c.-141C>G	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320217	NM_001793.5(CDH3):c.-193G>T	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320216	NM_001793.5(CDH3):c.-267C>T	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance
Select item 320215	NM_001793.5(CDH3):c.-282G>T	CDH3, CDH3-AS1	Single nucleotide variant (non-coding transcript variant)	EEM syndrome	GUncertain significance

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