128178[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 more	Copy number gain	See cases	GPathogenic
Select item 155507	GRCh38/hg38 1q42.3-43(chr1:236206560-236941297)x3	ACTN2, EDARADD +29 more	Copy number gain	See cases	GUncertain significance
Select item 147484	GRCh38/hg38 1q42.3-43(chr1:236237049-236904883)x3	ACTN2, EDARADD +28 more	Copy number gain	See cases	GUncertain significance
Select item 1226215	NC_000001.11:g.236394112T>G	EDARADD	Single nucleotide variant	not provided	GBenign
Select item 262598	NM_145861.4(EDARADD):c.-3G>A	EDARADD	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 722615	NM_145861.4(EDARADD):c.15G>A (p.Thr5=)	EDARADD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 1277162	NM_145861.4(EDARADD):c.61+118G>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439637	NM_145861.4(EDARADD):c.61+123G>A	EDARADD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1223643	NM_145861.4(EDARADD):c.61+1091C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295013	NM_145861.4(EDARADD):c.61+1244G>A	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240648	NM_145861.4(EDARADD):c.62-263T>G	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255321	NM_145861.4(EDARADD):c.62-129dup	EDARADD	Duplication (intron variant)	not provided	GBenign
Select item 1295882	NM_145861.4(EDARADD):c.62-127G>A	EDARADD	Single nucleotide variant (intron variant)	not provided	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 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 3065706	NM_145861.4(EDARADD):c.80C>T (p.Pro27Leu)	EDARADD (P17L +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	GUncertain significance
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 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 3087124	NM_145861.4(EDARADD):c.104C>A (p.Thr35Asn)	EDARADD (T13N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 296448	NM_145861.4(EDARADD):c.115A>G (p.Asn39Asp)	EDARADD (N39D +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic Ectodermal Dysplasia, Recessive +2 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 876048	NM_145861.4(EDARADD):c.120+7G>A	EDARADD	Single nucleotide variant (intron variant)	Hypohidrotic ectodermal dysplasia +2 more	GBenign
Select item 779586	NM_145861.4(EDARADD):c.120+10A>G	EDARADD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295851	NM_145861.4(EDARADD):c.120+270T>G	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287437	NM_145861.4(EDARADD):c.121-210T>C	EDARADD	Single nucleotide variant (intron variant)	not provided	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 876049	NM_145861.4(EDARADD):c.121-6C>G	EDARADD	Single nucleotide variant (intron variant)	Hypohidrotic ectodermal dysplasia	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 1723797	NM_145861.4(EDARADD):c.148G>A (p.Glu50Lys)	EDARADD (E40K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1295767	NM_145861.4(EDARADD):c.160+162T>C	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290224	NM_145861.4(EDARADD):c.160+163C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278018	NM_145861.4(EDARADD):c.160+169dup	EDARADD	Duplication (intron variant)	not provided	GBenign
Select item 1295803	NM_145861.4(EDARADD):c.160+201G>A	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230978	NM_145861.4(EDARADD):c.160+247G>A	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224591	NM_145861.4(EDARADD):c.161-195C>G	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295875	NM_145861.4(EDARADD):c.161-129C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237172	NM_145861.4(EDARADD):c.161-63C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	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 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 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 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 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 1324320	NM_145861.4(EDARADD):c.161-2A>G	EDARADD	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
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 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 1222286	NM_145861.4(EDARADD):c.219+66T>G	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295811	NM_145861.4(EDARADD):c.219+253T>A	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 296449	NM_145861.4(EDARADD):c.220-15C>T	EDARADD	Single nucleotide variant (intron variant)	Hypohidrotic Ectodermal Dysplasia, Recessive +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 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 741782	NM_145861.4(EDARADD):c.246C>T (p.Ser82=)	EDARADD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3087125	NM_145861.4(EDARADD):c.254A>T (p.Asp85Val)	EDARADD (D85V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1248735	NM_145861.4(EDARADD):c.266-221C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247629	NM_145861.4(EDARADD):c.266-127C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 208574	NM_145861.4(EDARADD):c.299_300insAAC (p.Cys100Ter)	EDARADD (C100* +1 more)	Insertion (inframe_indel +1 more)	not specified	GUncertain significance
Select item 296450	NM_145861.4(EDARADD):c.302C>T (p.Thr101Ile)	EDARADD (T101I +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic Ectodermal Dysplasia, Recessive +1 more	GUncertain significance
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 2518674	NM_145861.4(EDARADD):c.323G>A (p.Arg108Gln)	EDARADD (R108Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1333297	NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala)	EDARADD (D110A +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	GLikely pathogenic
Select item 793035	NM_145861.4(EDARADD):c.360C>T (p.Asp120=)	EDARADD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4189	NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg)	EDARADD (L112R +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	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 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 2338370	NM_145861.4(EDARADD):c.370G>C (p.Val124Leu)	EDARADD (V114L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 452073	NM_145861.4(EDARADD):c.389A>G (p.Asp130Gly)	EDARADD (D130G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 540294	NM_145861.4(EDARADD):c.393G>A (p.Pro131=)	EDARADD	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +2 more	GBenign
Select item 2619039	NM_145861.4(EDARADD):c.394T>G (p.Cys132Gly)	EDARADD (C122G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 65754	NM_145861.4(EDARADD):c.402_407del (p.Thr135_Val136del)	EDARADD	Deletion (inframe_indel +1 more)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Gnot provided
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 929423	NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile)	EDARADD (N128I +2 more)	Single nucleotide variant (missense variant)	Tooth agenesis	GLikely pathogenic
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 2507084	NM_145861.4(EDARADD):c.439G>A (p.Gly147Arg)	EDARADD (G137R +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 2474569	NM_145861.4(EDARADD):c.448T>A (p.Tyr150Asn)	EDARADD (Y140N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
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 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 806390	NM_145861.4(EDARADD):c.488C>A (p.Pro163His)	EDARADD (P153H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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