ClinVar for MedGen (Select 590621) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802156	NM_025216.3(WNT10A):c.[487C>T];[682T>A]			Odonto-onycho-dermal dysplasia	GPathogenic
Select item 894565	NM_022336.4(EDAR):c.-71C>G	EDAR, RANBP2	Single nucleotide variant (5 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894564	NM_022336.4(EDAR):c.-18-14C>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 894530	NM_022336.4(EDAR):c.849C>A (p.Ser283Arg)	EDAR, RANBP2 (S283R)	Single nucleotide variant (missense variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894529	NM_022336.4(EDAR):c.849C>T (p.Ser283=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 894528	NM_022336.4(EDAR):c.1029T>C (p.Leu343=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894492	NM_022336.4(EDAR):c.*791A>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894491	NM_022336.4(EDAR):c.*867A>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894490	NM_022336.4(EDAR):c.*976A>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894457	NM_022336.4(EDAR):c.*2016G>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894456	NM_022336.4(EDAR):c.*2078T>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 894455	NM_022336.4(EDAR):c.*2141T>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 894454	NM_022336.4(EDAR):c.*2189G>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894453	NM_022336.4(EDAR):c.*2376T>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894157	NM_022336.4(EDAR):c.156G>A (p.Pro52=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia	GLikely benign
Select item 894156	NM_022336.4(EDAR):c.208G>A (p.Gly70Ser)	EDAR, RANBP2 (G70S)	Single nucleotide variant (missense variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894098	NM_022336.4(EDAR):c.*1108G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894097	NM_022336.4(EDAR):c.*1133C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 894096	NM_022336.4(EDAR):c.*1199C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893317	NM_022336.4(EDAR):c.560C>T (p.Ala187Val)	EDAR, RANBP2 (A187V)	Single nucleotide variant (missense variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893316	NM_022336.4(EDAR):c.606C>T (p.Ile202=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893315	NM_022336.4(EDAR):c.675G>A (p.Pro225=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia	GLikely benign
Select item 893277	NM_022336.4(EDAR):c.*191C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893276	NM_022336.4(EDAR):c.*242T>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893275	NM_022336.4(EDAR):c.*254C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 893274	NM_022336.4(EDAR):c.*402G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893273	NM_022336.4(EDAR):c.*447T>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893246	NM_022336.4(EDAR):c.*1298G>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893245	NM_022336.4(EDAR):c.*1364T>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GLikely benign
Select item 893244	NM_022336.4(EDAR):c.*1366A>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GLikely benign
Select item 893243	NM_022336.4(EDAR):c.*1435G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893242	NM_022336.4(EDAR):c.*1563C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893143	NM_022336.4(EDAR):c.-256C>T	EDAR, RANBP2	Single nucleotide variant (5 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893106	NM_022336.4(EDAR):c.731-4G>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	Hypohidrotic ectodermal dysplasia +3 more	GLikely benign
Select item 893069	NM_022336.4(EDAR):c.*485C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893068	NM_022336.4(EDAR):c.*486G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893067	NM_022336.4(EDAR):c.*546C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893066	NM_022336.4(EDAR):c.*639T>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893065	NM_022336.4(EDAR):c.*714T>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893029	NM_022336.4(EDAR):c.*1647C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893028	NM_022336.4(EDAR):c.*1678C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 893027	NM_022336.4(EDAR):c.*1703G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893026	NM_022336.4(EDAR):c.*1710G>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893025	NM_022336.4(EDAR):c.*1774G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 893024	NM_022336.4(EDAR):c.*1798G>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 877067	NM_145861.4(EDARADD):c.*1303T>G	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 877066	NM_145861.4(EDARADD):c.*1262C>T	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 877065	NM_145861.4(EDARADD):c.*1250C>T	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 877064	NM_145861.4(EDARADD):c.*1174A>G	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 877062	NM_145861.4(EDARADD):c.*1012A>G	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 876164	NM_145861.4(EDARADD):c.*2008G>A	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 876111	NM_145861.4(EDARADD):c.*1004G>A	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 876110	NM_145861.4(EDARADD):c.*966A>G	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 876109	NM_145861.4(EDARADD):c.*956C>T	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 876108	NM_145861.4(EDARADD):c.*920C>T	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 876049	NM_145861.4(EDARADD):c.121-6C>G	EDARADD	Single nucleotide variant (intron variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 876048	NM_145861.4(EDARADD):c.120+7G>A	EDARADD	Single nucleotide variant (intron variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +2 more	GBenign
Select item 875206	NM_145861.4(EDARADD):c.*1788G>A	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 875205	NM_145861.4(EDARADD):c.*1723G>A	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 875149	NM_145861.4(EDARADD):c.*765G>A	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 875148	NM_145861.4(EDARADD):c.*757A>C	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 874272	NM_145861.4(EDARADD):c.*1722C>T	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 874271	NM_145861.4(EDARADD):c.*1613T>C	EDARADD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 874226	NM_145861.4(EDARADD):c.*12T>C	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 862820	NM_022336.4(EDAR):c.802A>T (p.Ser268Cys)	RANBP2, EDAR (S268C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 706918	NM_022336.4(EDAR):c.1017C>T (p.Val339=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +2 more	GLikely benign
Select item 706526	NM_022336.4(EDAR):c.1179C>T (p.Asp393=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +2 more	GBenign
Select item 702817	NM_022336.4(EDAR):c.243A>G (p.Lys81=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 702179	NM_022336.4(EDAR):c.736G>A (p.Val246Met)	RANBP2, EDAR (V246M)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GBenign
Select item 540294	NM_145861.4(EDARADD):c.393G>A (p.Pro131=)	EDARADD	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +3 more	GBenign/Likely benign
Select item 463882	NM_022336.4(EDAR):c.813T>C (p.Asp271=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +3 more	GBenign
Select item 463881	NM_022336.4(EDAR):c.723G>A (p.Glu241=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +5 more	GBenign/Likely benign
Select item 330719	NM_022336.4(EDAR):c.-238C>T	RANBP2, EDAR	Single nucleotide variant (5 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GUncertain significance
Select item 330718	NM_022336.4(EDAR):c.-235G>A	EDAR, RANBP2	Single nucleotide variant (5 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330717	NM_022336.4(EDAR):c.-226T>C	EDAR, RANBP2	Single nucleotide variant (5 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330716	NM_022336.4(EDAR):c.-189T>C	EDAR, RANBP2	Single nucleotide variant (5 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 330715	NM_022336.4(EDAR):c.-129G>T	RANBP2, EDAR	Single nucleotide variant (5 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330714	NM_022336.4(EDAR):c.-30A>C	EDAR, RANBP2	Single nucleotide variant (5 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330713	NM_022336.4(EDAR):c.-4G>A	EDAR, RANBP2	Single nucleotide variant (5 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330712	NM_022336.4(EDAR):c.68C>T (p.Ser23Leu)	EDAR, RANBP2 (S23L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 330711	NM_022336.4(EDAR):c.146C>T (p.Pro49Leu)	EDAR, RANBP2 (P49L)	Single nucleotide variant (missense variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 330710	NM_022336.4(EDAR):c.186C>T (p.Tyr62=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330709	NM_022336.4(EDAR):c.607G>A (p.Val203Ile)	EDAR, RANBP2 (V203I)	Single nucleotide variant (missense variant)	Hypohidrotic ectodermal dysplasia +5 more	GUncertain significance
Select item 330708	NM_022336.4(EDAR):c.674C>T (p.Pro225Leu)	EDAR, RANBP2 (P225L)	Single nucleotide variant (missense variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +3 more	GUncertain significance
Select item 330707	NM_022336.4(EDAR):c.844C>T (p.Arg282Trp)	RANBP2, EDAR (R282W)	Single nucleotide variant (missense variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 330706	NM_022336.4(EDAR):c.1183A>G (p.Met395Val)	EDAR, RANBP2 (M395V)	Single nucleotide variant (missense variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330705	NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn)	EDAR, RANBP2 (D430N)	Single nucleotide variant (missense variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330704	NM_022336.4(EDAR):c.*188G>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330703	NM_022336.4(EDAR):c.*328G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GBenign/Likely benign
Select item 330702	NM_022336.4(EDAR):c.*499C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330701	NM_022336.4(EDAR):c.*602T>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330700	NM_022336.4(EDAR):c.*625C>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330699	NM_022336.4(EDAR):c.*757T>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GBenign/Likely benign
Select item 330698	NM_022336.4(EDAR):c.*895C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GBenign/Likely benign
Select item 330697	NM_022336.4(EDAR):c.*935C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GBenign/Likely benign
Select item 330696	NM_022336.4(EDAR):c.*999C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GBenign/Likely benign
Select item 330695	NM_022336.4(EDAR):c.*1107C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GBenign/Likely benign
Select item 330694	NM_022336.4(EDAR):c.*1129A>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GBenign
Select item 330693	NM_022336.4(EDAR):c.*1181C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance
Select item 330692	NM_022336.4(EDAR):c.*1226A>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GUncertain significance

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