ClinVar for MedGen (Select 120527) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362344	NM_001353214.3(DYM):c.421+1G>T	DYM	Single nucleotide variant (splice donor variant +1 more)	Dyggve-Melchior-Clausen syndrome	GUncertain significance
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 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 2671893	GRCh37/hg19 18q21.2(chr18:49286617-49331863)x1		Copy number loss	Dyggve-Melchior-Clausen syndrome	GLikely pathogenic
Select item 2584904	NM_001353214.3(DYM):c.99G>A (p.Trp33Ter)	DYM (W33*)	Single nucleotide variant (nonsense)	Dyggve-Melchior-Clausen syndrome	GLikely pathogenic
Select item 2574672	NM_001353214.3(DYM):c.916C>T (p.Gln306Ter)	DYM (Q115* +6 more)	Single nucleotide variant (nonsense +1 more)	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 2574625	NM_001353214.3(DYM):c.1125+1G>A	DYM	Single nucleotide variant (splice donor variant)	Dyggve-Melchior-Clausen syndrome	GLikely pathogenic
Select item 2503430	NM_001353214.3(DYM):c.610C>T (p.Arg204Ter)	DYM (R128* +2 more)	Single nucleotide variant (nonsense +1 more)	Dyggve-Melchior-Clausen syndrome +1 more	GPathogenic
Select item 1704249	NM_001353214.3(DYM):c.1177_1178del (p.His393fs)	DYM (H202fs +7 more)	Deletion (frameshift variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 1679898	NM_001353214.3(DYM):c.445dup (p.Glu149fs)	DYM (E148fs +2 more)	Duplication (frameshift variant +1 more)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 1322791	NM_001353214.3(DYM):c.59T>A (p.Leu20Ter)	DYM (L20*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1077099	NM_001353214.3(DYM):c.54_55insC (p.Lys19fs)	DYM (K19fs)	Insertion (frameshift variant)	Dyggve-Melchior-Clausen syndrome	GLikely pathogenic
Select item 1048092	NM_001353214.3(DYM):c.963del (p.Ser322fs)	DYM (S131fs +7 more)	Deletion (frameshift variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 1048091	NM_001353214.3(DYM):c.705_708dup (p.Pro237fs)	DYM (P161fs +3 more)	Duplication (frameshift variant +1 more)	Dyggve-Melchior-Clausen syndrome	GPathogenic
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 1048089	NM_001353214.3(DYM):c.1653_1654del (p.His551fs)	DYM (H305fs +12 more)	Microsatellite (frameshift variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 1048088	NM_001353214.3(DYM):c.1049T>G (p.Leu350Arg)	DYM (L159R +7 more)	Single nucleotide variant (missense variant)	Dyggve-Melchior-Clausen syndrome	GUncertain significance
Select item 1048087	NM_001353214.3(DYM):c.550T>C (p.Ser184Pro)	DYM (S108P +2 more)	Single nucleotide variant (missense variant +1 more)	Dyggve-Melchior-Clausen syndrome	GUncertain significance
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 1033852	NM_001353214.3(DYM):c.899C>T (p.Ala300Val)	DYM (A258V +6 more)	Single nucleotide variant (missense variant +1 more)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
Select item 1027549	NM_001353214.3(DYM):c.719C>A (p.Ser240Ter)	DYM (S164* +3 more)	Single nucleotide variant (nonsense +1 more)	Dyggve-Melchior-Clausen syndrome	GPathogenic
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 982866	NM_001353214.3(DYM):c.947-2A>G	DYM	Single nucleotide variant (splice acceptor variant)	DYM-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 981237	NM_001353214.3(DYM):c.1222del (p.Asp408fs)	DYM (D217fs +7 more)	Deletion (frameshift variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 813511	NM_001353214.3(DYM):c.95dup (p.Trp33fs)	DYM (W33fs)	Duplication (frameshift variant)	Dyggve-Melchior-Clausen syndrome	GPathogenic
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 449561	NM_001353214.3(DYM):c.208C>T (p.Arg70Ter)	DYM (R70* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 326919	NM_017653.4(DYM):c.-309G>C	DYM	Single nucleotide variant	not provided +2 more	GBenign
Select item 326918	NM_001353214.3(DYM):c.-294C>T	DYM	Single nucleotide variant (5 prime UTR variant)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
Select item 326917	NM_001353214.3(DYM):c.-251G>T	DYM, LOC130062481	Single nucleotide variant (5 prime UTR variant)	Smith-McCort dysplasia +1 more	GUncertain significance
Select item 326916	NM_001353214.3(DYM):c.-243C>T	DYM, LOC130062481	Single nucleotide variant (5 prime UTR variant)	Smith-McCort dysplasia +1 more	GUncertain significance
Select item 326915	NM_001353214.3(DYM):c.-238G>T	DYM, LOC130062481	Single nucleotide variant (5 prime UTR variant)	Smith-McCort dysplasia +1 more	GUncertain significance
Select item 326914	NM_001353214.3(DYM):c.-222G>A	DYM, LOC130062481	Single nucleotide variant (5 prime UTR variant)	Smith-McCort dysplasia +1 more	GUncertain significance
Select item 326913	NM_001353214.3(DYM):c.-215G>A	DYM, LOC130062481	Single nucleotide variant (5 prime UTR variant)	Smith-McCort dysplasia +1 more	GUncertain significance
Select item 326912	NM_001353214.3(DYM):c.-169G>A	LOC130062481, DYM	Single nucleotide variant (5 prime UTR variant)	Smith-McCort dysplasia +1 more	GUncertain significance
Select item 326911	NM_001353214.3(DYM):c.-154G>T	DYM, LOC130062481	Single nucleotide variant (5 prime UTR variant)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
Select item 326910	NM_001353214.3(DYM):c.-94G>C	DYM, LOC130062481	Single nucleotide variant (5 prime UTR variant)	Smith-McCort dysplasia +1 more	GUncertain significance
Select item 326909	NM_001353214.3(DYM):c.21A>T (p.Arg7Ser)	DYM (R7S)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia +2 more	GUncertain significance
Select item 326908	NM_001353214.3(DYM):c.42T>G (p.Asn14Lys)	DYM (N14K)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia +1 more	GUncertain significance
Select item 326907	NM_001353214.3(DYM):c.193+9G>A	DYM	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 326906	NM_001353214.3(DYM):c.297C>T (p.Phe99=)	DYM	Single nucleotide variant (synonymous variant +1 more)	Smith-McCort dysplasia +1 more	GUncertain significance
Select item 326905	NM_001353214.3(DYM):c.321G>A (p.Leu107=)	DYM	Single nucleotide variant (synonymous variant +1 more)	Smith-McCort dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 326904	NM_001353214.3(DYM):c.342G>A (p.Leu114=)	DYM	Single nucleotide variant (synonymous variant +1 more)	Smith-McCort dysplasia +3 more	GBenign/Likely benign
Select item 326903	NM_001353214.3(DYM):c.421A>G (p.Ser141Gly)	DYM (S141G +1 more)	Single nucleotide variant (missense variant +1 more)	Smith-McCort dysplasia +3 more	GBenign/Likely benign
Select item 326902	NM_001353214.3(DYM):c.573A>T (p.Glu191Asp)	DYM (E191D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 326901	NM_001353214.3(DYM):c.831T>C (p.Ser277=)	DYM	Single nucleotide variant (synonymous variant +1 more)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
Select item 326900	NM_001353214.3(DYM):c.920C>T (p.Ala307Val)	DYM (A307V +6 more)	Single nucleotide variant (missense variant +1 more)	Smith-McCort dysplasia +1 more	GUncertain significance
Select item 326899	NM_001353214.3(DYM):c.961C>T (p.Pro321Ser)	DYM (P321S +7 more)	Single nucleotide variant (missense variant)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
Select item 326898	NM_001353214.3(DYM):c.980C>A (p.Ala327Asp)	DYM (A327D +7 more)	Single nucleotide variant (missense variant)	Smith-McCort dysplasia +3 more	GUncertain significance
Select item 326897	NM_001353214.3(DYM):c.1115T>C (p.Met372Thr)	DYM (M372T +7 more)	Single nucleotide variant (missense variant)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
Select item 326896	NM_001353214.3(DYM):c.1116G>A (p.Met372Ile)	DYM (M372I +7 more)	Single nucleotide variant (missense variant)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
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 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 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 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 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 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 326889	NM_001353214.3(DYM):c.2053G>A (p.Val685Met)	DYM-AS1, DYM (V630M +18 more)	Single nucleotide variant (missense variant +1 more)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
Select item 326888	NM_001353214.3(DYM):c.2164G>T (p.Asp722Tyr)	DYM, DYM-AS1 (D667Y +18 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 326887	NM_001353214.3(DYM):c.*12T>C	DYM, DYM-AS1	Single nucleotide variant (3 prime UTR variant)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
Select item 326886	NM_001353214.3(DYM):c.*22G>A	DYM, DYM-AS1	Single nucleotide variant (3 prime UTR variant)	Smith-McCort dysplasia +2 more	GLikely benign
Select item 326885	NM_001353214.3(DYM):c.*123G>A	DYM, DYM-AS1	Single nucleotide variant (3 prime UTR variant)	Dyggve-Melchior-Clausen syndrome +1 more	GUncertain significance
Select item 290755	NM_001353214.3(DYM):c.288-10G>A	DYM	Single nucleotide variant (intron variant)	Dyggve-Melchior-Clausen syndrome +2 more	GConflicting classifications of pathogenicity
Select item 287525	NM_001353214.3(DYM):c.620+4T>G	DYM	Single nucleotide variant (intron variant)	Dyggve-Melchior-Clausen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 284211	NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg)	DYM (Q593R +15 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 198883	NM_001353214.3(DYM):c.621-2A>G	DYM	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic
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 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 3192	NM_001353214.3(DYM):c.422-2A>G	DYM	Single nucleotide variant (splice acceptor variant +1 more)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 3191	NM_001353214.3(DYM):c.2043del (p.Lys681fs)	DYM, DYM-AS1 (K626fs +18 more)	Deletion (frameshift variant +1 more)	not provided +1 more	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 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 3186	NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter)	DYM (Y132* +1 more)	Single nucleotide variant (nonsense +1 more)	Dyggve-Melchior-Clausen syndrome +3 more	GPathogenic/Likely pathogenic
Select item 3185	NM_001353214.3(DYM):c.763del (p.Thr255fs)	DYM (T255fs +6 more)	Deletion (frameshift variant +1 more)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 3184	NM_001353214.3(DYM):c.48C>G (p.Tyr16Ter)	DYM (Y16*)	Single nucleotide variant (nonsense)	Dyggve-Melchior-Clausen syndrome	GPathogenic

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Items: 77