ClinVar for MedGen (Select 761671) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2952474	NM_145861.4(EDARADD):c.548_549del (p.Leu182_Cys183insTer)	EDARADD	Deletion (nonsense)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GUncertain significance
Select item 2952473	NM_145861.4(EDARADD):c.543G>T (p.Glu181Asp)	EDARADD (E159D +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GUncertain significance
Select item 2948482	NM_145861.4(EDARADD):c.570C>T (p.Asp190=)	EDARADD	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GLikely benign
Select item 2945599	NM_145861.4(EDARADD):c.404C>T (p.Thr135Met)	EDARADD (T125M +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GUncertain significance
Select item 2939815	NC_000001.11:g.236468231_236468234del	EDARADD	Deletion	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GPathogenic
Select item 2939545	NM_145861.4(EDARADD):c.154C>T (p.Pro52Ser)	EDARADD (P30S +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GUncertain significance
Select item 2938095	NM_145861.4(EDARADD):c.484A>G (p.Ser162Gly)	EDARADD (S152G +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GUncertain significance
Select item 2929835	NM_145861.4(EDARADD):c.62-18T>C	EDARADD	Single nucleotide variant (intron variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GLikely benign
Select item 2428490	NM_145861.4(EDARADD):c.469G>A (p.Glu157Lys)	EDARADD (E147K +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 2194991	NM_145861.4(EDARADD):c.161-17_161-15del	EDARADD	Deletion (intron variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GLikely benign
Select item 2188579	NM_145861.4(EDARADD):c.220G>A (p.Gly74Arg)	EDARADD (G64R +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +1 more	GUncertain significance
Select item 2163120	NM_145861.4(EDARADD):c.147G>A (p.Thr49=)	EDARADD	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GLikely benign
Select item 2161136	NM_145861.4(EDARADD):c.101G>A (p.Ser34Asn)	EDARADD (S24N +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GUncertain significance
Select item 1967978	NM_145861.4(EDARADD):c.22C>G (p.Gln8Glu)	EDARADD (Q8E)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GUncertain significance
Select item 1598577	NM_145861.4(EDARADD):c.161-6dup	EDARADD	Duplication (intron variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GBenign
Select item 1529213	NM_145861.4(EDARADD):c.121-19C>T	EDARADD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1514540	NC_000001.10:g.(?_236631511)_(236645949_?)dup	EDARADD	Duplication	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +1 more	GUncertain significance
Select item 1439044	NM_145861.4(EDARADD):c.446C>T (p.Ser149Phe)	EDARADD (S139F +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GUncertain significance
Select item 1354328	NM_145861.4(EDARADD):c.358_359delinsAT (p.Asp120Ile)	EDARADD (D120I +2 more)	Indel (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GUncertain significance
Select item 1347024	NC_000001.10:g.(?_236631511)_(236631596_?)dup	EDARADD	Duplication	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GLikely pathogenic
Select item 1293214	NM_145861.4(EDARADD):c.161-6del	EDARADD	Deletion (intron variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +2 more	GBenign
Select item 1255369	NM_145861.4(EDARADD):c.161-33G>C	EDARADD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1255368	NM_145861.4(EDARADD):c.62-41A>G	EDARADD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1055040	NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn)	EDARADD (D180N +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GUncertain significance
Select item 1028539	NM_145861.4(EDARADD):c.440G>T (p.Gly147Val)	EDARADD (G137V +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	GUncertain significance
Select item 996825	NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu)	EDARADD (D180E +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 996824	NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys)	EDARADD (E19K +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 876048	NM_145861.4(EDARADD):c.120+7G>A	EDARADD	Single nucleotide variant (intron variant)	Hypohidrotic ectodermal dysplasia +2 more	GBenign
Select item 843361	NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu)	EDARADD (P121L +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 572712	NM_145861.4(EDARADD):c.199A>T (p.Asn67Tyr)	EDARADD (N67Y +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GUncertain significance
Select item 540294	NM_145861.4(EDARADD):c.393G>A (p.Pro131=)	EDARADD	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +2 more	GBenign
Select item 540293	NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln)	EDARADD (R170Q +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +3 more	GUncertain significance
Select item 473077	NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter)	EDARADD (W139* +2 more)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GPathogenic
Select item 282055	NM_145861.4(EDARADD):c.60G>A (p.Glu20=)	EDARADD	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +5 more	GBenign/Likely benign
Select item 280481	NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter)	EDARADD (R66* +2 more)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +1 more	GPathogenic
Select item 262602	NM_145861.4(EDARADD):c.369C>T (p.Asp123=)	EDARADD	Single nucleotide variant (synonymous variant)	Hypohidrotic Ectodermal Dysplasia, Recessive +5 more	GBenign/Likely benign
Select item 262601	NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe)	EDARADD (S103F +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 262600	NM_145861.4(EDARADD):c.27G>A (p.Met9Ile)	EDARADD (M9I)	Single nucleotide variant (missense variant)	Hypohidrotic Ectodermal Dysplasia, Recessive +5 more	GBenign
Select item 262599	NM_145861.4(EDARADD):c.161-13T>C	EDARADD	Single nucleotide variant (intron variant)	Hypohidrotic Ectodermal Dysplasia, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 253093	NM_145861.4(EDARADD):c.120+1G>A	EDARADD	Single nucleotide variant (splice donor variant)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 253092	NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn)	EDARADD (D123N +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +1 more	GLikely pathogenic
Select item 5853	NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)	EDAR, RANBP2 (R420Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +3 more	GPathogenic/Likely pathogenic
Select item 4188	NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys)	EDARADD (E142K +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic

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Items: 43