ClinVar for Gene (Select 1825) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273801	NM_001941.5(DSC3):c.1022G>C (p.Cys341Ser)	DSC3 (C341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273800	NM_001941.5(DSC3):c.2105T>A (p.Leu702Gln)	DSC3 (L702Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273799	NM_001941.5(DSC3):c.2305T>C (p.Ser769Pro)	DSC3 (S769P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273798	NM_001941.5(DSC3):c.1364G>C (p.Arg455Thr)	DSC3 (R455T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273797	NM_001941.5(DSC3):c.2336T>C (p.Ile779Thr)	DSC3 (I779T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273795	NM_001941.5(DSC3):c.545C>A (p.Pro182His)	DSC3 (P182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273794	NM_001941.5(DSC3):c.2482C>T (p.Arg828Cys)	DSC3 (R828C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273793	NM_001941.5(DSC3):c.1943T>C (p.Ile648Thr)	DSC3 (I648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273792	NM_001941.5(DSC3):c.1075G>T (p.Ala359Ser)	DSC3 (A359S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085870	NM_001941.5(DSC3):c.969G>A (p.Met323Ile)	DSC3 (M323I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085869	NM_001941.5(DSC3):c.835C>T (p.Arg279Cys)	DSC3 (R279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085868	NM_001941.5(DSC3):c.833C>T (p.Thr278Met)	DSC3 (T278M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085866	NM_001941.5(DSC3):c.2378G>T (p.Arg793Leu)	DSC3 (R793L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085865	NM_001941.5(DSC3):c.2228A>T (p.Asp743Val)	DSC3 (D743V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085864	NM_001941.5(DSC3):c.2164C>T (p.Arg722Cys)	DSC3 (R722C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085863	NM_001941.5(DSC3):c.1942A>G (p.Ile648Val)	DSC3 (I648V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3085862	NM_001941.5(DSC3):c.1850C>T (p.Pro617Leu)	DSC3 (P617L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085860	NM_001941.5(DSC3):c.1825T>G (p.Tyr609Asp)	DSC3 (Y609D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085859	NM_001941.5(DSC3):c.1811A>G (p.His604Arg)	DSC3 (H604R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085858	NM_001941.5(DSC3):c.1627G>C (p.Glu543Gln)	DSC3 (E543Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085856	NM_001941.5(DSC3):c.1436G>A (p.Arg479Gln)	DSC3 (R479Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085855	NM_001941.5(DSC3):c.1387A>G (p.Arg463Gly)	DSC3 (R463G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085854	NM_001941.5(DSC3):c.1379T>C (p.Val460Ala)	DSC3 (V460A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085853	NM_001941.5(DSC3):c.1322C>T (p.Ala441Val)	DSC3 (A441V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3050367	NM_001941.5(DSC3):c.1608G>A (p.Glu536=)	DSC3	Single nucleotide variant (synonymous variant)	DSC3-related disorder	GLikely benign
Select item 3042216	NM_001941.5(DSC3):c.595C>T (p.Arg199Trp)	DSC3 (R199W)	Single nucleotide variant (missense variant)	DSC3-related disorder	GBenign
Select item 3040227	NM_001941.5(DSC3):c.972A>G (p.Lys324=)	DSC3	Single nucleotide variant (synonymous variant)	DSC3-related disorder	GLikely benign
Select item 3033281	NM_001941.5(DSC3):c.2218C>T (p.Pro740Ser)	DSC3 (P740S)	Single nucleotide variant (missense variant)	DSC3-related disorder	GLikely benign
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2681249	NM_001941.5(DSC3):c.1473C>T (p.Asn491=)	DSC3	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2617220	NM_001941.5(DSC3):c.1585A>G (p.Thr529Ala)	DSC3 (T529A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601489	NM_001941.5(DSC3):c.1118T>C (p.Ile373Thr)	DSC3 (I373T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593569	NM_001941.5(DSC3):c.473A>G (p.Gln158Arg)	DSC3 (Q158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593107	NM_001941.5(DSC3):c.2165G>A (p.Arg722His)	DSC3 (R722H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554049	NM_001941.5(DSC3):c.2402T>G (p.Leu801Arg)	DSC3 (L801R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553764	NM_001941.5(DSC3):c.776G>T (p.Gly259Val)	DSC3 (G259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515583	NM_001941.5(DSC3):c.289T>C (p.Trp97Arg)	DSC3 (W97R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513744	NM_001941.5(DSC3):c.1547G>T (p.Gly516Val)	DSC3 (G516V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494815	NM_001941.5(DSC3):c.782C>T (p.Thr261Ile)	DSC3 (T261I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494488	NM_001941.5(DSC3):c.373A>G (p.Thr125Ala)	DSC3 (T125A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486359	NM_001941.5(DSC3):c.106A>G (p.Ile36Val)	DSC3 (I36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484870	NM_001941.5(DSC3):c.2167T>C (p.Phe723Leu)	DSC3 (F723L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484056	NM_001941.5(DSC3):c.1595T>A (p.Ile532Asn)	DSC3 (I532N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483067	NM_001941.5(DSC3):c.2494-114G>C	DSC3 (R835T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2441782	NM_001941.5(DSC3):c.1123C>T (p.Arg375Ter)	DSC3 (R375*)	Single nucleotide variant (nonsense)	Hereditary hypotrichosis with recurrent skin vesicles	GLikely pathogenic
Select item 2374450	NM_001941.5(DSC3):c.575C>G (p.Thr192Ser)	DSC3 (T192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359075	NM_001941.5(DSC3):c.288A>G (p.Ile96Met)	DSC3 (I96M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354413	NM_001941.5(DSC3):c.1294A>G (p.Asn432Asp)	DSC3 (N432D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341852	NM_001941.5(DSC3):c.1406C>T (p.Pro469Leu)	DSC3 (P469L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330066	NM_001941.5(DSC3):c.1826A>G (p.Tyr609Cys)	DSC3 (Y609C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320379	NM_001941.5(DSC3):c.1670G>T (p.Arg557Ile)	DSC3 (R557I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317967	NM_001941.5(DSC3):c.1634A>G (p.Tyr545Cys)	DSC3 (Y545C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311466	NM_001941.5(DSC3):c.393G>T (p.Arg131Ser)	DSC3 (R131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306322	NM_001941.5(DSC3):c.1111G>A (p.Val371Met)	DSC3 (V371M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304905	NM_001941.5(DSC3):c.418A>C (p.Ile140Leu)	DSC3 (I140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303925	NM_001941.5(DSC3):c.1335A>C (p.Arg445Ser)	DSC3 (R445S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285109	NM_001941.5(DSC3):c.689C>T (p.Pro230Leu)	DSC3 (P230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219564	NM_001941.5(DSC3):c.2494-108A>C	DSC3 (H837P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214547	NM_001941.5(DSC3):c.1900C>T (p.Arg634Cys)	DSC3 (R634C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212163	NM_001941.5(DSC3):c.2227G>A (p.Asp743Asn)	DSC3 (D743N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2077763	NM_001941.5(DSC3):c.2236-2A>G	DSC3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2072986	NM_001941.5(DSC3):c.2236-1G>T	DSC3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2054815	NM_001941.5(DSC3):c.1225_1228del (p.Asp409fs)	DSC3 (D409fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1310015	NM_001941.5(DSC3):c.1511A>G (p.Asn504Ser)	DSC3 (N504S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1295645	NM_001941.5(DSC3):c.305G>A (p.Arg102Lys)	DSC3 (R102K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1295639	NM_001941.5(DSC3):c.355-176G>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295636	NM_001941.5(DSC3):c.475-229A>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295632	NM_001941.5(DSC3):c.776-300G>T	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290685	NM_001941.5(DSC3):c.2235+142A>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290529	NM_001941.5(DSC3):c.2236-301G>T	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290445	NM_001941.5(DSC3):c.2113+170A>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288388	NM_001941.5(DSC3):c.1797T>C (p.Pro599=)	DSC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1288248	NM_001941.5(DSC3):c.474+271A>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287128	NM_001941.5(DSC3):c.2494-176del	DSC3	Deletion (intron variant)	not provided	GBenign
Select item 1280328	NM_001941.5(DSC3):c.155-282del	DSC3	Deletion (intron variant)	not provided	GBenign
Select item 1276898	NM_001941.5(DSC3):c.2494-134C>T	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275976	NM_001941.5(DSC3):c.70-278_70-277del	DSC3	Deletion (intron variant)	not provided	GBenign
Select item 1274808	NM_001941.5(DSC3):c.69+34G>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274578	NM_001941.5(DSC3):c.1889-224C>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274546	NM_001941.5(DSC3):c.70-278T>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273415	NM_001941.5(DSC3):c.630+234A>T	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271890	NM_001941.5(DSC3):c.943-312G>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270107	NM_001941.5(DSC3):c.2113+238A>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269085	NM_001941.5(DSC3):c.775+211C>T	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268029	NM_001941.5(DSC3):c.83C>A (p.Ala28Asp)	DSC3 (A28D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1267666	NM_001941.5(DSC3):c.1664-180G>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267408	NM_001941.5(DSC3):c.2457G>A (p.Ser819=)	DSC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266158	NM_001941.5(DSC3):c.2494-219A>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263224	NM_001941.5(DSC3):c.1264-46G>A	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260749	NM_001941.5(DSC3):c.1888+327T>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257911	NM_001941.5(DSC3):c.354+62T>G	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257293	NM_001941.5(DSC3):c.354+52T>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253461	NM_001941.5(DSC3):c.259_260dup	DSC3	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1250516	NM_001941.5(DSC3):c.942+18T>C	DSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248384	NM_001941.5(DSC3):c.232T>A (p.Ser78Thr)	DSC3 (S78T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1245157	NC_000018.10:g.31043005G>C	DSC3	Single nucleotide variant	not provided	GBenign
Select item 1243193	NM_001941.5(DSC3):c.354+32dup	DSC3	Duplication (intron variant)	not provided	GBenign

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