DTL[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 3086065	NM_016448.4(DTL):c.11A>G (p.Asn4Ser)	DTL (N4S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2639883	NM_016448.4(DTL):c.87G>A (p.Leu29=)	DTL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2218855	NM_016448.4(DTL):c.104G>C (p.Ser35Thr)	DTL (S35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327615	NM_016448.4(DTL):c.175T>A (p.Ser59Thr)	DTL (S59T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086072	NM_016448.4(DTL):c.271T>G (p.Phe91Val)	DTL (F91V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3086073	NM_016448.4(DTL):c.301G>A (p.Val101Ile)	DTL (V101I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2317305	NM_016448.4(DTL):c.606G>C (p.Lys202Asn)	DTL (K160N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086074	NM_016448.4(DTL):c.629C>T (p.Ala210Val)	DTL (A210V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2458680	NM_016448.4(DTL):c.683A>T (p.Asn228Ile)	DTL (N186I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3086075	NM_016448.4(DTL):c.848G>A (p.Gly283Asp)	DTL (G12D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220428	NM_016448.4(DTL):c.893T>A (p.Phe298Tyr)	DTL (F298Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273950	NM_016448.4(DTL):c.919C>T (p.Pro307Ser)	DTL (P307S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261112	NM_016448.4(DTL):c.1091C>T (p.Thr364Met)	DTL (T93M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474109	NM_016448.4(DTL):c.1102T>C (p.Trp368Arg)	DTL (W368R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639884	NM_016448.4(DTL):c.1215G>A (p.Thr405=)	DTL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2325788	NM_016448.4(DTL):c.1393C>T (p.Pro465Ser)	DTL (P423S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619172	NM_016448.4(DTL):c.1407T>G (p.Ile469Met)	DTL (I469M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260446	NM_016448.4(DTL):c.1421C>G (p.Ala474Gly)	DTL (A432G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086067	NM_016448.4(DTL):c.1497G>A (p.Met499Ile)	DTL (M228I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086068	NM_016448.4(DTL):c.1552C>T (p.Pro518Ser)	DTL (P476S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086069	NM_016448.4(DTL):c.1559C>T (p.Ser520Leu)	DTL (S478L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233652	NM_016448.4(DTL):c.1565C>T (p.Thr522Ile)	DTL (T251I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086070	NM_016448.4(DTL):c.1781A>G (p.Asn594Ser)	DTL (N323S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254013	NM_016448.4(DTL):c.2008C>T (p.Arg670Trp)	DTL (R399W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273949	NM_016448.4(DTL):c.2033G>A (p.Arg678Gln)	DTL (R407Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086071	NM_016448.4(DTL):c.2093C>G (p.Pro698Arg)	DTL (P427R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328936	NM_016448.4(DTL):c.2093C>T (p.Pro698Leu)	DTL (P656L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721138	NM_016448.4(DTL):c.2145A>G (p.Arg715=)	DTL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2558063	NM_016448.4(DTL):c.2162T>A (p.Phe721Tyr)	DTL (F721Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 48