ClinVar for Gene (Select 1832) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076043	NM_004415.4(DSP):c.4577del (p.Asn1526fs)	DSP (N1526fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3076036	NM_004415.4(DSP):c.3110dup (p.Leu1037fs)	DSP (L1037fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3075877	NM_004415.4(DSP):c.3789_3805del (p.Thr1264fs)	DSP (T1264fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3075495	NM_004415.4(DSP):c.4872T>C (p.Ile1624=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3075480	NM_004415.4(DSP):c.4348G>A (p.Glu1450Lys)	DSP (E1450K)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075443	NM_004415.4(DSP):c.2915T>A (p.Leu972Gln)	DSP (L972Q)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075417	NM_004415.4(DSP):c.330T>C (p.Cys110=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3075399	NM_004415.4(DSP):c.3889C>T (p.Gln1297Ter)	DSP (Q1297*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GPathogenic
Select item 3075387	NM_004415.4(DSP):c.8148dup (p.Trp2717fs)	DSP (W2118fs +2 more)	Duplication (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 3075386	NM_004415.4(DSP):c.7439_7476dup (p.Phe2493delinsArgArgProThrArgArgAlaTer)	DSP	Duplication (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 3075378	NM_004415.4(DSP):c.1204A>G (p.Lys402Glu)	DSP (K402E)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075372	NM_004415.4(DSP):c.3923G>C (p.Arg1308Pro)	DSP (R1308P)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075349	NM_004415.4(DSP):c.4856T>C (p.Leu1619Pro)	DSP (L1619P)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075339	NM_004415.4(DSP):c.974A>G (p.Glu325Gly)	DSP (E325G)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075327	NM_004415.4(DSP):c.8554_8555dup (p.Thr2853fs)	DSP (T2254fs +2 more)	Duplication (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075317	NM_004415.4(DSP):c.3319C>A (p.Leu1107Ile)	DSP (L1107I)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075278	NM_004415.4(DSP):c.1502T>A (p.Val501Asp)	DSP (V501D)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075277	NM_004415.4(DSP):c.4414G>A (p.Ala1472Thr)	DSP (A1472T)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075276	NM_004415.4(DSP):c.8324C>G (p.Thr2775Ser)	DSP (T2176S +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075257	NM_004415.4(DSP):c.7684T>G (p.Ser2562Ala)	DSP (S1963A +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075250	NM_004415.4(DSP):c.8515T>G (p.Ser2839Ala)	DSP (S2240A +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075248	NM_004415.4(DSP):c.323A>T (p.Asp108Val)	DSP (D108V)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075246	NM_004415.4(DSP):c.7732A>T (p.Ser2578Cys)	DSP (S1979C +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075201	NM_004415.4(DSP):c.2626T>A (p.Phe876Ile)	DSP (F876I)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075196	NM_004415.4(DSP):c.7350G>A (p.Lys2450=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3075184	NM_004415.4(DSP):c.7076T>C (p.Ile2359Thr)	DSP (I1760T +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075170	NM_004415.4(DSP):c.8264dup (p.Ile2756fs)	DSP (I2157fs +2 more)	Duplication (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075155	NM_004415.4(DSP):c.107G>A (p.Gly36Asp)	DSP-AS1, DSP (G36D)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075111	NM_004415.4(DSP):c.4163C>A (p.Thr1388Asn)	DSP (T1388N)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075089	NM_004415.4(DSP):c.4428C>A (p.Ile1476=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3075037	NM_004415.4(DSP):c.6646C>T (p.Pro2216Ser)	DSP (P1617S +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075034	NM_004415.4(DSP):c.1965T>G (p.Ile655Met)	DSP (I655M)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3075019	NM_004415.4(DSP):c.6502dup (p.Ser2168fs)	DSP (S1569fs +2 more)	Duplication (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 3075013	NM_004415.4(DSP):c.5788_5793del (p.Thr1930_Glu1931del)	DSP	Deletion (inframe_deletion)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074968	NM_004415.4(DSP):c.6151G>A (p.Ala2051Thr)	DSP (A1452T +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074959	NM_004415.4(DSP):c.3760G>T (p.Val1254Phe)	DSP (V1254F)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074909	NM_004415.4(DSP):c.2565G>A (p.Lys855=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3074879	NM_004415.4(DSP):c.408T>A (p.Asp136Glu)	DSP (D136E)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074845	NM_004415.4(DSP):c.4864G>T (p.Ala1622Ser)	DSP (A1622S)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074844	NM_004415.4(DSP):c.2522A>G (p.Gln841Arg)	DSP (Q841R)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074831	NM_004415.4(DSP):c.3061C>T (p.Leu1021=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3074827	NM_004415.4(DSP):c.1608G>A (p.Leu536=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3074822	NM_004415.4(DSP):c.1964T>C (p.Ile655Thr)	DSP (I655T)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074798	NM_004415.4(DSP):c.3992A>G (p.Lys1331Arg)	DSP (K1331R)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074792	NM_004415.4(DSP):c.7616T>C (p.Val2539Ala)	DSP (V1940A +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074775	NM_004415.4(DSP):c.1060C>G (p.Leu354Val)	DSP (L354V)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074728	NM_004415.4(DSP):c.23A>T (p.His8Leu)	DSP, DSP-AS1 (H8L)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074718	NM_004415.4(DSP):c.7364C>T (p.Thr2455Ile)	DSP (T1856I +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074705	NM_004415.4(DSP):c.3883C>T (p.Leu1295=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3074696	NM_004415.4(DSP):c.3672A>C (p.Ile1224=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3074693	NM_004415.4(DSP):c.2808A>G (p.Glu936=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3074659	NM_004415.4(DSP):c.7133T>C (p.Ile2378Thr)	DSP (I1779T +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074652	NM_004415.4(DSP):c.54C>G (p.Ile18Met)	DSP, DSP-AS1 (I18M)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074618	NM_004415.4(DSP):c.2462A>G (p.Lys821Arg)	DSP (K821R)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074589	NM_004415.4(DSP):c.2214G>A (p.Lys738=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3074583	NM_004415.4(DSP):c.4408G>A (p.Asp1470Asn)	DSP (D1470N)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074565	NM_004415.4(DSP):c.8432A>C (p.Lys2811Thr)	DSP (K2212T +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074562	NM_004415.4(DSP):c.8043C>G (p.Asp2681Glu)	DSP (D2082E +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074491	NM_004415.4(DSP):c.6589G>T (p.Gly2197Cys)	DSP (G1598C +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074475	NM_004415.4(DSP):c.5801G>T (p.Arg1934Leu)	DSP (R1335L +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074463	NM_004415.4(DSP):c.5665G>T (p.Glu1889Ter)	DSP (E1290* +2 more)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 3074448	NM_004415.4(DSP):c.6455G>A (p.Gly2152Glu)	DSP (G1553E +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074445	NM_004415.4(DSP):c.887A>C (p.Tyr296Ser)	DSP (Y296S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074432	NM_004415.4(DSP):c.3012del (p.Ile1004fs)	DSP (I1004fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 3074400	NM_004415.4(DSP):c.4107G>T (p.Glu1369Asp)	DSP (E1369D)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074378	NM_004415.4(DSP):c.171-10G>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3074348	NM_004415.4(DSP):c.1840G>C (p.Asp614His)	DSP (D614H)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074335	NM_004415.4(DSP):c.903G>T (p.Lys301Asn)	DSP (K301N)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074333	NM_004415.4(DSP):c.469A>T (p.Ser157Cys)	DSP (S157C)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074330	NM_004415.4(DSP):c.1489G>A (p.Gly497Ser)	DSP (G497S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074328	NM_004415.4(DSP):c.3162_3164del (p.Lys1054del)	DSP (K1054del)	Deletion (inframe_deletion)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074302	NM_004415.4(DSP):c.8125G>A (p.Ala2709Thr)	DSP (A2110T +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074291	NM_004415.4(DSP):c.3416A>G (p.Tyr1139Cys)	DSP (Y1139C)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074264	NM_004415.4(DSP):c.3962A>G (p.Gln1321Arg)	DSP (Q1321R)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074262	NM_004415.4(DSP):c.253G>A (p.Ala85Thr)	DSP (A85T)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074260	NM_004415.4(DSP):c.24C>A (p.His8Gln)	DSP, DSP-AS1 (H8Q)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074258	NM_004415.4(DSP):c.2279C>A (p.Thr760Lys)	DSP (T760K)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074257	NM_004415.4(DSP):c.2878-7G>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3074256	NM_004415.4(DSP):c.423-9T>C	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3074242	NM_004415.4(DSP):c.7523_7525del (p.Ile2508del)	DSP (I1909del +2 more)	Deletion (inframe_deletion)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074241	NM_004415.4(DSP):c.7256_7258del (p.Asn2419del)	DSP (N1820del +2 more)	Deletion (inframe_deletion)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074239	NM_004415.4(DSP):c.202C>T (p.Gln68Ter)	DSP (Q68*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 3074238	NM_004415.4(DSP):c.297A>G (p.Ile99Met)	DSP (I99M)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074237	NM_004415.4(DSP):c.298C>A (p.Gln100Lys)	DSP (Q100K)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074231	NM_004415.4(DSP):c.7768G>A (p.Val2590Ile)	DSP (V1991I +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074191	NM_004415.4(DSP):c.7177_7178del (p.Lys2393fs)	DSP (K1794fs +2 more)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 3074180	NM_004415.4(DSP):c.7981A>T (p.Ile2661Phe)	DSP (I2062F +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074158	NM_004415.4(DSP):c.2793+6_2793+7insCAAAAAGA	DSP	Insertion (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074157	NM_004415.4(DSP):c.2793+1_2793+5delinsAACAAAAAG	DSP	Indel (splice donor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 3074134	NM_004415.4(DSP):c.2998C>T (p.His1000Tyr)	DSP (H1000Y)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074112	NM_004415.4(DSP):c.3660C>T (p.Thr1220=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 3074007	NM_004415.4(DSP):c.3970A>T (p.Asn1324Tyr)	DSP (N1324Y)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074005	NM_004415.4(DSP):c.7757G>A (p.Arg2586Gln)	DSP (R1987Q +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3073975	NM_004415.4(DSP):c.4237A>G (p.Lys1413Glu)	DSP (K1413E)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3073962	NM_004415.4(DSP):c.299A>T (p.Gln100Leu)	DSP (Q100L)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3073948	NM_004415.4(DSP):c.122A>G (p.Tyr41Cys)	DSP, DSP-AS1 (Y41C)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3073922	NM_004415.4(DSP):c.1035C>A (p.Asp345Glu)	DSP (D345E)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3073897	NM_004415.4(DSP):c.8605A>T (p.Ile2869Phe)	DSP (I2270F +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3073866	NM_004415.4(DSP):c.3673T>C (p.Ser1225Pro)	DSP (S1225P)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3073849	NM_004415.4(DSP):c.372G>C (p.Leu124Phe)	DSP (L124F)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance

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