DYM[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 191091	NM_001353214.3(DYM):c.2025+1G>A	DYM	Single nucleotide variant (splice donor variant +1 more)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 3036336	NM_001353214.3(DYM):c.2021T>C (p.Leu674Pro)	DYM (L368P +15 more)	Single nucleotide variant (missense variant +1 more)	DYM-related disorder	GUncertain significance
Select item 3053278	NM_001353214.3(DYM):c.2020C>T (p.Leu674=)	DYM	Single nucleotide variant (synonymous variant +1 more)	DYM-related disorder	GLikely benign
Select item 2176352	NM_001353214.3(DYM):c.2017A>G (p.Arg673Gly)	DYM (R427G +15 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2264214	NM_001353214.3(DYM):c.2008C>T (p.Pro670Ser)	DYM (P425S +15 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1519963	NM_001353214.3(DYM):c.2003C>T (p.Ala668Val)	DYM (A362V +15 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2885657	NM_001353214.3(DYM):c.1998C>T (p.Val666=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 326890	NM_001353214.3(DYM):c.1995C>T (p.Gly665=)	DYM	Single nucleotide variant (synonymous variant +1 more)	Smith-McCort dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 2693024	NM_001353214.3(DYM):c.1986T>C (p.Ile662=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1365589	NM_001353214.3(DYM):c.1981A>G (p.Ile661Val)	DYM (I530V +15 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 326891	NM_001353214.3(DYM):c.1977G>A (p.Leu659=)	DYM	Single nucleotide variant (synonymous variant +1 more)	Smith-McCort dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 1425774	NM_001353214.3(DYM):c.1970G>A (p.Arg657Gln)	DYM (R351Q +15 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983133	NM_001353214.3(DYM):c.1969C>T (p.Arg657Trp)	DYM (R411W +15 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2384809	NM_001353214.3(DYM):c.1952C>T (p.Ala651Val)	DYM (A345V +15 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 284211	NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg)	DYM (Q593R +15 more)	Single nucleotide variant (missense variant +1 more)	Smith-McCort dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 326892	NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu)	DYM (F587L +15 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1916734	NM_001353214.3(DYM):c.1922T>C (p.Phe641Ser)	DYM (F451S +15 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 326893	NM_001353214.3(DYM):c.1914G>C (p.Val638=)	DYM	Single nucleotide variant (synonymous variant +1 more)	Smith-McCort dysplasia +3 more	GBenign/Likely benign
Select item 2805619	NM_001353214.3(DYM):c.1912-10T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642174	NM_001353214.3(DYM):c.1912-15C>T	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 798941	NM_017653.6(DYM):c.1746+9A>G	DYM	Single nucleotide variant	not provided	GLikely benign
Select item 2909362	NM_001353214.3(DYM):c.1911+2T>C	DYM	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1941128	NM_001353214.3(DYM):c.1910T>G (p.Leu637Arg)	DYM (L391R +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3274134	NM_001353214.3(DYM):c.1891A>G (p.Ile631Val)	DYM (I500V +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1402164	NM_001353214.3(DYM):c.1884T>G (p.Phe628Leu)	DYM (F512L +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924737	NM_001353214.3(DYM):c.1877C>G (p.Pro626Arg)	DYM (P381R +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2553422	NM_001353214.3(DYM):c.1870A>G (p.Thr624Ala)	DYM (T378A +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 326894	NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln)	DYM (R568Q +11 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3064949	NM_001353214.3(DYM):c.1867C>T (p.Arg623Ter)	DYM (R377* +11 more)	Single nucleotide variant (nonsense +1 more)	Dyggve-Melchior-Clausen syndrome	GUncertain significance
Select item 1313776	NM_001353214.3(DYM):c.1849G>A (p.Asp617Asn)	DYM (D371N +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2962486	NM_001353214.3(DYM):c.1831G>A (p.Ala611Thr)	DYM (A480T +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 194545	NM_001353214.3(DYM):c.1827A>G (p.Val609=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1613848	NM_001353214.3(DYM):c.1809C>T (p.His603=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1583898	NM_001353214.3(DYM):c.1792C>T (p.Leu598=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3193	NM_001353214.3(DYM):c.1789T>C (p.Cys597Arg)	DYM (C542R +11 more)	Single nucleotide variant (missense variant +1 more)	Smith-McCort dysplasia 1	GPathogenic
Select item 161709	NM_001353214.3(DYM):c.1779C>G (p.Ile593Met)	DYM (I538M +11 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2715044	NM_001353214.3(DYM):c.1776G>A (p.Glu592=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 992365	NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter)	DYM (R342* +11 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1638449	NM_001353214.3(DYM):c.1740A>G (p.Leu580=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940690	NM_001353214.3(DYM):c.1729G>T (p.Ala577Ser)	DYM (A521S +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1180713	NM_001353214.3(DYM):c.1729-1G>A	DYM	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1001383	NM_001353214.3(DYM):c.1729-5A>G	DYM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1233765	NM_001353214.3(DYM):c.1729-78G>C	DYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221481	NM_001353214.3(DYM):c.1728+178C>T	DYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047442	NM_001353214.3(DYM):c.1728+7_1728+8insTACT	DYM	Insertion (intron variant)	DYM-related disorder	GLikely benign
Select item 1048090	NM_001353214.3(DYM):c.1728+2T>C	DYM	Single nucleotide variant (splice donor variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic/Likely pathogenic
Select item 2105523	NM_001353214.3(DYM):c.1727A>T (p.Tyr576Phe)	DYM (Y331F +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283838	NM_001353214.3(DYM):c.1717C>T (p.Leu573=)	DYM	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 1723359	NM_001353214.3(DYM):c.1694C>T (p.Ser565Leu)	DYM (S319L +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2958692	NM_001353214.3(DYM):c.1692T>G (p.Gly564=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982956	NM_001353214.3(DYM):c.1678C>T (p.Gln560Ter)	DYM (Q314* +12 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 265106	NM_001353214.3(DYM):c.1669C>T (p.Gln557Ter)	DYM (Q502* +12 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1572949	NM_001353214.3(DYM):c.1659A>G (p.Lys553=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500997	NM_001353214.3(DYM):c.1654A>G (p.Asn552Asp)	DYM (N307D +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1048089	NM_001353214.3(DYM):c.1653_1654del (p.His551fs)	DYM (H305fs +12 more)	Microsatellite (frameshift variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 1048086	NM_001353214.3(DYM):c.1650dup (p.His551fs)	DYM (H305fs +12 more)	Duplication (frameshift variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 2742753	NM_001353214.3(DYM):c.1626-1G>T	DYM	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3241985	NM_001353214.3(DYM):c.1626-2A>G	DYM	Single nucleotide variant (splice acceptor variant)	Dyggve-Melchior-Clausen syndrome	GLikely pathogenic
Select item 2574635	NM_001353214.3(DYM):c.1626-14_1626-4del	DYM	Deletion (intron variant)	Dyggve-Melchior-Clausen syndrome	GUncertain significance
Select item 726259	NM_017653.6(DYM):c.1461-8T>G	DYM	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1235602	NM_001353214.3(DYM):c.1626-101del	DYM	Deletion (intron variant)	not provided	GBenign
Select item 1248347	NM_001353214.3(DYM):c.1626-303C>T	DYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291676	NM_001353214.3(DYM):c.1626-304T>G	DYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3348362	NM_001353214.3(DYM):c.1609_1619del (p.Arg537fs)	DYM (R347fs +4 more)	Deletion (frameshift variant +1 more)	DYM-related disorder	GLikely pathogenic
Select item 2648711	NM_001353214.3(DYM):c.1517C>T (p.Pro506Leu)	DYM (P316L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1622373	NM_001353214.3(DYM):c.1460+15T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968817	NM_001353214.3(DYM):c.1460+8T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1040617	NM_001353214.3(DYM):c.1460G>A (p.Ser487Asn)	DYM (S297N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372699	NM_001353214.3(DYM):c.1433A>G (p.His478Arg)	DYM (H288R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411362	NM_001353214.3(DYM):c.1424G>A (p.Arg475His)	DYM (R474H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2064244	NM_001353214.3(DYM):c.1415C>T (p.Ala472Val)	DYM (A411V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017181	NM_001353214.3(DYM):c.1413G>A (p.Ser471=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940745	NM_001353214.3(DYM):c.1412C>T (p.Ser471Leu)	DYM (S469L +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3187	NM_001353214.3(DYM):c.1405A>T (p.Asn469Tyr)	DYM (N469Y +7 more)	Single nucleotide variant (missense variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 1583856	NM_001353214.3(DYM):c.1383A>C (p.Thr461=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953233	NM_001353214.3(DYM):c.1381A>G (p.Thr461Ala)	DYM (T271A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695356	NM_001353214.3(DYM):c.1371G>A (p.Lys457=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1635638	NM_001353214.3(DYM):c.1366-8C>G	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980866	NM_001353214.3(DYM):c.1366-16C>T	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222728	NM_001353214.3(DYM):c.1366-174A>T	DYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251899	NM_001353214.3(DYM):c.1365+154G>A	DYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261041	NM_001353214.3(DYM):c.1365+117C>T	DYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2976547	NM_001353214.3(DYM):c.1365+18T>C	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 194100	NM_001353214.3(DYM):c.1344A>G (p.Gln448=)	DYM	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia +2 more	GUncertain significance
Select item 2799737	NM_001353214.3(DYM):c.1323G>A (p.Leu441=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1510152	NM_001353214.3(DYM):c.1301C>T (p.Ser434Phe)	DYM (S358F +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902605	NM_001353214.3(DYM):c.1300T>C (p.Ser434Pro)	DYM (S244P +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3086421	NM_001353214.3(DYM):c.1285G>A (p.Val429Ile)	DYM (V239I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 191092	NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter)	DYM (R428* +7 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 3190	NM_001353214.3(DYM):c.1252-1G>A	DYM	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1131045	NM_001353214.3(DYM):c.1252-449_1252-6del	DYM	Deletion (intron variant)	not provided	GLikely benign
Select item 1183141	NM_001353214.3(DYM):c.1252-328GT[17]	DYM	Microsatellite (intron variant)	not provided	GBenign
Select item 1268602	NM_001353214.3(DYM):c.1252-328G>C	DYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272301	NM_001353214.3(DYM):c.1251+172dup	DYM	Duplication (intron variant)	not provided	GBenign
Select item 1243479	NM_001353214.3(DYM):c.1251+155dup	DYM	Duplication (intron variant)	not provided	GBenign
Select item 1267669	NM_001353214.3(DYM):c.1251+131T>A	DYM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 326895	NM_001353214.3(DYM):c.1251+12T>C	DYM	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1351470	NM_001353214.3(DYM):c.1244A>T (p.His415Leu)	DYM (H224L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744256	NM_001353214.3(DYM):c.1230C>T (p.Phe410=)	DYM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981237	NM_001353214.3(DYM):c.1222del (p.Asp408fs)	DYM (D217fs +7 more)	Deletion (frameshift variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic

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