ClinVar for Gene (Select 1800) - ClinVar

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Links from Gene

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273566	NM_001389466.1(DPEP1):c.952G>A (p.Val318Ile)	DPEP1 (V318I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273565	NM_001389466.1(DPEP1):c.842C>T (p.Ser281Phe)	DPEP1 (S281F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273564	NM_001389466.1(DPEP1):c.736C>T (p.Arg246Cys)	DPEP1 (R246C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3085423	NM_001389466.1(DPEP1):c.1229T>A (p.Leu410His)	DPEP1 (L410H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3085422	NM_001389466.1(DPEP1):c.1001C>T (p.Thr334Met)	DPEP1 (T334M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063468	GRCh37/hg19 16q24.3(chr16:89692538-89740609)x1	CHMP1A, DPEP1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063398	GRCh37/hg19 16q24.3(chr16:89462287-89772750)x3	ANKRD11, CDK10 +8 more	Copy number gain	not specified	GUncertain significance
Select item 2684824	GRCh37/hg19 16q24.3(chr16:89563707-89772750)x3	CDK10, CHMP1A +6 more	Copy number gain	not provided	GUncertain significance
Select item 2613689	NM_001389466.1(DPEP1):c.1030G>T (p.Asp344Tyr)	DPEP1 (D344Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601530	NM_001389466.1(DPEP1):c.464C>A (p.Ala155Glu)	DPEP1 (A155E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601529	NM_001389466.1(DPEP1):c.463G>A (p.Ala155Thr)	DPEP1 (A155T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595806	NM_001389466.1(DPEP1):c.1113C>A (p.Asp371Glu)	DPEP1 (D371E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543155	NM_001389466.1(DPEP1):c.1174C>T (p.Arg392Cys)	DPEP1 (R392C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516309	NM_001389466.1(DPEP1):c.613C>T (p.Arg205Cys)	DPEP1 (R205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467202	NM_001389466.1(DPEP1):c.322A>C (p.Met108Leu)	DPEP1 (M108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454964	NM_001389466.1(DPEP1):c.887C>T (p.Ala296Val)	DPEP1 (A296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425847	NC_000016.9:g.(?_89167090)_(89883023_?)dup	ACSF3, ANKRD11 +15 more	Duplication	KBG syndrome	GUncertain significance
Select item 2425843	NC_000016.9:g.(?_89371594)_(89730828_?)dup	ANKRD11, CHMP1A +6 more	Duplication	KBG syndrome	GUncertain significance
Select item 2424532	NC_000016.9:g.(?_89334886)_(89723996_?)dup	ANKRD11, CHMP1A +5 more	Duplication	not provided	GUncertain significance
Select item 2422433	NC_000016.9:g.(?_89611036)_(90106937_?)dup	CDK10, CENPBD1 +18 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422422	NC_000016.9:g.(?_89556653)_(89851392_?)dup	ANKRD11, CDK10 +10 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	ACSF3, ANKRD11 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 2394931	NM_001389466.1(DPEP1):c.220G>A (p.Gly74Ser)	DPEP1 (G74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380547	NM_001389466.1(DPEP1):c.164G>C (p.Arg55Thr)	DPEP1 (R55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380147	NM_001389466.1(DPEP1):c.949G>T (p.Asp317Tyr)	DPEP1 (D317Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368169	NM_001389466.1(DPEP1):c.11G>C (p.Gly4Ala)	DPEP1 (G4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364675	NM_001389466.1(DPEP1):c.256C>T (p.Pro86Ser)	DPEP1 (P86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291379	NM_001389466.1(DPEP1):c.329G>A (p.Arg110Gln)	DPEP1 (R110Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263900	NM_001389466.1(DPEP1):c.704A>G (p.His235Arg)	DPEP1 (H235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206116	NM_001389466.1(DPEP1):c.976G>A (p.Ala326Thr)	DPEP1 (A326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807941	GRCh37/hg19 16q24.3(chr16:89662422-89895938)x1	CDK10, CHMP1A +8 more	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526545	GRCh37/hg19 16q24.3(chr16:88985997-89962916)	ACSF3, ANKRD11 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1340329	GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3	CDK10, ANKRD11 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 1179109	GRCh37/hg19 16q24.3(chr16:89620873-89881041)	CDK10, CHMP1A +9 more	Copy number loss	Fanconi anemia complementation group A	GPathogenic
Select item 980110	GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3	DEF8, FANCA +21 more	Copy number gain	not provided	GUncertain significance
Select item 979491	GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3	ACSF3, DEF8 +20 more	Copy number gain	not provided	GUncertain significance
Select item 979487	GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	SLC22A31, SNAI3 +41 more	Copy number gain	not provided	GUncertain significance
Select item 974363	NC_000016.9:g.89645037_89810099del	CDK10, CHMP1A +7 more	Deletion	Fanconi anemia complementation group A	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 689215	GRCh37/hg19 16q24.3(chr16:89662327-89927634)x1	CDK10, CHMP1A +8 more	Copy number loss	not provided	GUncertain significance
Select item 688368	GRCh37/hg19 16q24.3(chr16:89666802-89760599)x3	CDK10, CHMP1A +2 more	Copy number gain	not provided	GUncertain significance
Select item 687163	GRCh37/hg19 16q24.3(chr16:89688616-89828326)x1	CDK10, CHMP1A +6 more	Copy number loss	not provided	GUncertain significance
Select item 685139	GRCh37/hg19 16q24.3(chr16:89443552-89726484)x3	ANKRD11, CHMP1A +6 more	Copy number gain	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 446436	GRCh37/hg19 16q24.3(chr16:89689822-89726926)x3	CHMP1A, CPNE7 +2 more	Copy number gain	not specified	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442917	GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4	ACSF3, ANKRD11 +57 more	Copy number gain	See cases	GLikely pathogenic
Select item 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	ACSF3, ANKRD11 +59 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 395568	GRCh37/hg19 16q24.3(chr16:89675027-89703888)x1	DPEP1	Copy number loss	See cases	GLikely benign
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 253986	GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3	ACSF3, ANKRD11 +24 more	Copy number gain	See cases	GUncertain significance
Select item 253944	GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3	ZNF276, SPIRE2 +15 more	Copy number gain	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153450	GRCh38/hg38 16q24.3(chr16:89610227-89829851)x1	CDK10, CHMP1A +38 more	Copy number loss	See cases	GUncertain significance
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 152598	GRCh38/hg38 16q24.3(chr16:89582242-89623414)x3	CPNE7, DPEP1	Copy number gain	See cases	GBenign/Likely benign
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 152584	GRCh38/hg38 16q24.3(chr16:89582242-89635475)x3	CPNE7, DPEP1 +1 more	Copy number gain	See cases	GBenign/Likely benign
Select item 151822	GRCh38/hg38 16q24.3(chr16:89593912-89623414)x3	CPNE7, DPEP1	Copy number gain	See cases	GBenign/Likely benign
Select item 151644	GRCh38/hg38 16q24.3(chr16:89586679-89648483)x3	CHMP1A, CPNE7 +2 more	Copy number gain	See cases	GLikely benign
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 149227	GRCh38/hg38 16q24.3(chr16:89481626-89665765)x3	ANKRD11, CHMP1A +27 more	Copy number gain	See cases	GUncertain significance
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 148353	GRCh38/hg38 16q24.3(chr16:89608619-89821113)x1	CDK10, CHMP1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 58270	GRCh38/hg38 16q24.3(chr16:89570545-89814613)x1	CDK10, CHMP1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 97