ClinVar for Gene (Select 128178) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248035	NC_000001.10:g.(?_234338304)_(237995947_?)dup	ACTN2, ARID4B +21 more	Duplication	not provided	GUncertain significance
Select item 3247621	NC_000001.10:g.(?_235275379)_(236899040_?)del	ACTN2, ARID4B +13 more	Deletion	Chédiak-Higashi syndrome	GPathogenic
Select item 3242322	GRCh37/hg19 1q43(chr1:236643262-236649528)x1	EDARADD	Copy number loss	not provided	GUncertain significance
Select item 3087126	NM_145861.4(EDARADD):c.571G>A (p.Val191Met)	EDARADD (V181M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 3063299	GRCh37/hg19 1q42.3-43(chr1:236221501-237380903)x3	ACTN2, EDARADD +8 more	Copy number gain	not specified	GUncertain significance
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 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
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 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 2538321	NM_145861.4(EDARADD):c.640C>T (p.His214Tyr)	EDARADD (H204Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 2465552	NM_145861.4(EDARADD):c.524C>T (p.Thr175Met)	EDARADD (T175M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2223873	NM_145861.4(EDARADD):c.623G>A (p.Arg208His)	EDARADD (R208H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1809015	GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1	ACTN2, ARID4B +30 more	Copy number loss	not provided	GUncertain significance
Select item 1809009	GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)x1	ACTN2, ARID4B +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
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 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
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 1527670	GRCh37/hg19 1q43(chr1:236616862-236658988)	EDARADD	Copy number loss	not specified	GUncertain significance
Select item 1527659	GRCh37/hg19 1q42.3-43(chr1:236593263-236688044)	EDARADD, LGALS8	Copy number loss	not specified	GUncertain significance
Select item 1527648	GRCh37/hg19 1q42.3-43(chr1:236508351-237427945)	ACTN2, LGALS8 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527626	GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)	ACTN2, ARID4B +32 more	Copy number loss	not specified	GPathogenic
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 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 1324320	NM_145861.4(EDARADD):c.161-2A>G	EDARADD	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 1295882	NM_145861.4(EDARADD):c.62-127G>A	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 1295851	NM_145861.4(EDARADD):c.120+270T>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 1295803	NM_145861.4(EDARADD):c.160+201G>A	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295767	NM_145861.4(EDARADD):c.160+162T>C	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295013	NM_145861.4(EDARADD):c.61+1244G>A	EDARADD	Single nucleotide variant (intron variant)	not provided	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 1290224	NM_145861.4(EDARADD):c.160+163C>T	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 1283741	NM_145861.4(EDARADD):c.*2078dup	EDARADD	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1278018	NM_145861.4(EDARADD):c.160+169dup	EDARADD	Duplication (intron variant)	not provided	GBenign
Select item 1277162	NM_145861.4(EDARADD):c.61+118G>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270976	NM_145861.4(EDARADD):c.*2078del	EDARADD	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1258293	NM_145861.4(EDARADD):c.*2113G>A	EDARADD	Single nucleotide variant (3 prime UTR 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 1255368	NM_145861.4(EDARADD):c.62-41A>G	EDARADD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1255321	NM_145861.4(EDARADD):c.62-129dup	EDARADD	Duplication (intron variant)	not provided	GBenign
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 1240648	NM_145861.4(EDARADD):c.62-263T>G	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 1230978	NM_145861.4(EDARADD):c.160+247G>A	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226215	NC_000001.11:g.236394112T>G	EDARADD	Single nucleotide 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 1223643	NM_145861.4(EDARADD):c.61+1091C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222286	NM_145861.4(EDARADD):c.219+66T>G	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180519	GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1	SPRTN, TARBP1 +34 more	Copy number loss	not provided	GPathogenic
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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	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 979944	GRCh37/hg19 1q42.3-43(chr1:235931559-236766584)x3	EDARADD, ERO1B +5 more	Copy number gain	not provided	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 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
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)	not provided +1 more	GBenign
Select item 877063	NM_145861.4(EDARADD):c.*1072C>T	EDARADD	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GUncertain significance
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

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