"GeneDx"[submitter] AND "DKC1"[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 1254959	NC_000023.11:g.154762460C>G	DKC1	Single nucleotide variant	not provided	GBenign
Select item 1198796	NC_000023.11:g.154762624A>G	DKC1	Single nucleotide variant	not provided	GLikely benign
Select item 38944	NM_001363.5(DKC1):c.-142C>G	DKC1, LOC130068886	Single nucleotide variant	Dyskeratosis congenita +3 more	GConflicting classifications of pathogenicity
Select item 1295610	NM_001363.5(DKC1):c.16+202C>T	DKC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223549	NM_001363.5(DKC1):c.16+219C>T	DKC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1702762	NM_001363.5(DKC1):c.16+402G>A	DKC1, LOC130068887	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192124	NM_001363.5(DKC1):c.84+238A>G	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 11591	NM_001363.5(DKC1):c.146C>T (p.Thr49Met)	DKC1 (T49M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1235128	NM_001363.5(DKC1):c.171+14del	DKC1	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 38946	NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)	DKC1 (T66A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 420625	NM_001363.5(DKC1):c.259A>G (p.Ile87Val)	DKC1 (I87V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1304377	NM_001363.5(DKC1):c.277A>T (p.Asn93Tyr)	DKC1 (N93Y)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 452258	NM_001363.5(DKC1):c.289C>A (p.Pro97Thr)	DKC1 (P97T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 11592	NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)	DKC1 (S121G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 2714424	NM_001363.5(DKC1):c.421C>T (p.Arg141Cys)	DKC1 (R141C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1295611	NM_001363.5(DKC1):c.449-55A>T	DKC1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1203892	NM_001363.5(DKC1):c.641-238A>T	DKC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227584	NM_001363.5(DKC1):c.641-163C>T	DKC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712649	NM_001363.5(DKC1):c.748C>T (p.Arg250Cys)	DKC1 (R250C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576877	NM_001363.5(DKC1):c.796G>A (p.Val266Met)	DKC1 (V266M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 755691	NM_001363.5(DKC1):c.915+10G>A	DKC1	Single nucleotide variant (intron variant)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
Select item 1234375	NM_001363.5(DKC1):c.915+110C>T	DKC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300426	NM_001363.5(DKC1):c.916-271_916-270dup	DKC1	Duplication (intron variant)	not provided	GLikely benign
Select item 1287671	NM_001363.5(DKC1):c.916-270dup	DKC1	Duplication (intron variant)	not provided	GBenign
Select item 1259712	NM_001363.5(DKC1):c.916-270del	DKC1	Deletion (intron variant)	not provided	GBenign
Select item 1206985	NM_001363.5(DKC1):c.916-149A>C	DKC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199558	NM_001363.5(DKC1):c.916-148C>T	DKC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421769	NM_001363.5(DKC1):c.980T>C (p.Ile327Thr)	DKC1 (I327T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364178	NM_001363.5(DKC1):c.1024G>A (p.Ala342Thr)	DKC1 (A342T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 489310	NM_001363.5(DKC1):c.1036+3A>G	DKC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1189690	NM_001363.5(DKC1):c.1036+29C>G	DKC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280252	NM_001363.5(DKC1):c.1036+330dup	DKC1	Duplication (intron variant)	not provided	GBenign
Select item 1254311	NM_001363.5(DKC1):c.1036+328_1036+330del	DKC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1249192	NM_001363.5(DKC1):c.1036+330del	DKC1	Deletion (intron variant)	not provided	GBenign
Select item 1711895	NM_001363.5(DKC1):c.1070C>G (p.Thr357Ser)	DKC1 (T357S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314028	NM_001363.5(DKC1):c.1091C>G (p.Ala364Gly)	DKC1 (A364G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 379736	NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)	DKC1 (R378Q)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 2630979	NM_001363.5(DKC1):c.1141G>A (p.Gly381Ser)	DKC1 (G381S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1280869	NM_001363.5(DKC1):c.1155+57dup	DKC1	Duplication (intron variant)	not provided	GBenign
Select item 1275081	NM_001363.5(DKC1):c.1155+35C>T	DKC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707167	NM_001363.5(DKC1):c.1155+56_1155+57del	DKC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1228080	NM_001363.5(DKC1):c.1155+57del	DKC1	Deletion (intron variant)	not provided	GBenign
Select item 1183531	NM_001363.5(DKC1):c.1155+57_1155+58del	DKC1	Deletion (intron variant)	not provided	GLikely benign
Select item 373447	NM_001363.5(DKC1):c.1174A>G (p.Met392Val)	DKC1 (M392V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 38941	NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)	DKC1 (T408I)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 1200996	NM_001363.5(DKC1):c.1259+39C>T	DKC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2582133	NM_001363.5(DKC1):c.1298A>G (p.Lys433Arg)	DKC1 (K428R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 700168	NM_001363.5(DKC1):c.1339-5C>T	DKC1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 128896	NM_001363.5(DKC1):c.1461C>T (p.Ala487=)	DKC1	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 3252336	NM_001363.5(DKC1):c.1487C>G (p.Thr496Ser)	DKC1 (T491S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 210847	NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)	DKC1	Microsatellite (inframe_insertion +2 more)	not specified +3 more	GBenign/Likely benign
Select item 1244861	NM_001363.5(DKC1):c.1512_1513insGAA (p.Lys504_Lys505insGlu)	DKC1	Insertion (inframe_insertion +2 more)	not provided	GBenign
Select item 166995	NM_001363.5(DKC1):c.*6G>A	DKC1	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita, X-linked +2 more	GBenign
Select item 1202351	NM_001363.5(DKC1):c.*40T>C	DKC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1295612	NM_001363.5(DKC1):c.*97A>G	DKC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 254001	GRCh37/hg19 Xq28(chrX:153928244-154065414)x3	MPP1, GAB3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253514	GRCh37/hg19 Xq28(chrX:153627408-154089925)x2	CTAG1A, MPP1 +19 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 77