DTX3L[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 1707450	Single allele	CASR, CSTA +45 more	Duplication	not specified	GUncertain significance
Select item 2284369	NM_138287.3(DTX3L):c.56G>A (p.Gly19Asp)	DTX3L, PARP9 (G19D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086134	NM_138287.3(DTX3L):c.90C>A (p.Phe30Leu)	DTX3L, PARP9 (F30L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306821	NM_138287.3(DTX3L):c.95G>C (p.Ser32Thr)	DTX3L, PARP9 (S32T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491025	NM_138287.3(DTX3L):c.101A>C (p.Lys34Thr)	DTX3L, PARP9 (K34T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273978	NM_138287.3(DTX3L):c.103T>C (p.Ser35Pro)	DTX3L, PARP9 (S35P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272291	NM_138287.3(DTX3L):c.166G>T (p.Val56Leu)	DTX3L, PARP9 (V56L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086130	NM_138287.3(DTX3L):c.199G>C (p.Val67Leu)	DTX3L (V67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 760327	NM_138287.3(DTX3L):c.234C>T (p.Asp78=)	DTX3L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2523083	NM_138287.3(DTX3L):c.290C>T (p.Thr97Met)	DTX3L (T97M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3273980	NM_138287.3(DTX3L):c.308C>T (p.Ser103Leu)	DTX3L (S103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301726	NM_138287.3(DTX3L):c.322C>G (p.Gln108Glu)	DTX3L (Q108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408484	NM_138287.3(DTX3L):c.335C>T (p.Pro112Leu)	DTX3L (P112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462368	NM_138287.3(DTX3L):c.368T>C (p.Ile123Thr)	DTX3L (I123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611568	NM_138287.3(DTX3L):c.449A>G (p.Glu150Gly)	DTX3L (E150G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539854	NM_138287.3(DTX3L):c.581A>G (p.Glu194Gly)	DTX3L (E194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339935	NM_138287.3(DTX3L):c.611C>T (p.Ser204Leu)	DTX3L (S204L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086133	NM_138287.3(DTX3L):c.634A>G (p.Ser212Gly)	DTX3L (S212G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303476	NM_138287.3(DTX3L):c.673C>T (p.Pro225Ser)	DTX3L (P225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321259	NM_138287.3(DTX3L):c.752C>T (p.Pro251Leu)	DTX3L (P251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495423	NM_138287.3(DTX3L):c.803A>G (p.Gln268Arg)	DTX3L (Q268R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477049	NM_138287.3(DTX3L):c.905C>T (p.Thr302Ile)	DTX3L (T302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215594	NM_138287.3(DTX3L):c.910C>T (p.Pro304Ser)	DTX3L (P304S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086125	NM_138287.3(DTX3L):c.1027C>G (p.Leu343Val)	DTX3L (L343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273982	NM_138287.3(DTX3L):c.1041A>C (p.Gln347His)	DTX3L (Q347H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286776	NM_138287.3(DTX3L):c.1133T>C (p.Ile378Thr)	DTX3L (I378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086126	NM_138287.3(DTX3L):c.1189T>C (p.Ser397Pro)	DTX3L (S397P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273979	NM_138287.3(DTX3L):c.1268A>G (p.Lys423Arg)	DTX3L (K423R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491746	NM_138287.3(DTX3L):c.1358T>A (p.Leu453His)	DTX3L (L453H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782692	NM_138287.3(DTX3L):c.1376G>T (p.Gly459Val)	DTX3L (G459V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2241808	NM_138287.3(DTX3L):c.1429A>G (p.Arg477Gly)	DTX3L (R477G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273981	NM_138287.3(DTX3L):c.1526G>A (p.Gly509Glu)	DTX3L (G509E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086127	NM_138287.3(DTX3L):c.1580C>T (p.Pro527Leu)	DTX3L (P527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086128	NM_138287.3(DTX3L):c.1595G>A (p.Ser532Asn)	DTX3L (S532N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273976	NM_138287.3(DTX3L):c.1597G>A (p.Asp533Asn)	DTX3L (D533N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364425	NM_138287.3(DTX3L):c.1657C>G (p.Leu553Val)	DTX3L (L553V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3273977	NM_138287.3(DTX3L):c.1775A>G (p.Tyr592Cys)	DTX3L (Y592C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314603	NM_138287.3(DTX3L):c.1780C>T (p.Pro594Ser)	DTX3L (P594S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412195	NM_138287.3(DTX3L):c.1808A>G (p.Tyr603Cys)	DTX3L (Y603C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482945	NM_138287.3(DTX3L):c.1882G>A (p.Glu628Lys)	DTX3L (E628K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086129	NM_138287.3(DTX3L):c.1950C>A (p.Asn650Lys)	DTX3L (N650K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331420	NM_138287.3(DTX3L):c.2027T>G (p.Leu676Arg)	DTX3L (L676R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086131	NM_138287.3(DTX3L):c.2030T>G (p.Leu677Arg)	DTX3L (L677R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483601	NM_138287.3(DTX3L):c.2041T>C (p.Phe681Leu)	DTX3L (F681L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086132	NM_138287.3(DTX3L):c.2054T>A (p.Leu685Gln)	DTX3L (L685Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456377	NM_138287.3(DTX3L):c.2077C>T (p.Arg693Cys)	DTX3L (R693C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374160	NM_138287.3(DTX3L):c.2080G>A (p.Val694Ile)	DTX3L (V694I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273974	NM_138287.3(DTX3L):c.2129C>T (p.Thr710Ile)	DTX3L (T710I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749820	NM_138287.3(DTX3L):c.2196G>A (p.Glu732=)	DTX3L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 687972	GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3	ADCY5, CASR +23 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253332	GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3	IQCB1, FAM162A +28 more	Copy number gain	See cases	GLikely pathogenic

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Items: 67