ClinVar for Gene (Select 9605) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332318	NM_004913.3(VPS9D1):c.103G>A (p.Ala35Thr)	VPS9D1 (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332317	NM_004913.3(VPS9D1):c.1187G>A (p.Gly396Asp)	VPS9D1 (G396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332316	NM_004913.3(VPS9D1):c.200A>G (p.Asp67Gly)	VPS9D1, VPS9D1-AS1 (D67G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3332315	NM_004913.3(VPS9D1):c.307C>T (p.Pro103Ser)	VPS9D1, VPS9D1-AS1 (P103S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3332314	NM_004913.3(VPS9D1):c.461T>G (p.Leu154Arg)	VPS9D1, VPS9D1-AS1 (L154R)	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 3243280	NC_000016.9:g.(?_89730828)_(89877489_?)del	CDK10, FANCA +4 more	Deletion	Fanconi anemia	GPathogenic
Select item 3243247	NC_000016.9:g.(?_89730828)_(89858975_?)del	CDK10, FANCA +4 more	Deletion	Fanconi anemia	GPathogenic
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 3189066	NM_004913.3(VPS9D1):c.983C>T (p.Ser328Leu)	VPS9D1 (S328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189065	NM_004913.3(VPS9D1):c.83C>G (p.Thr28Ser)	LOC130059835, VPS9D1 +1 more (T28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189064	NM_004913.3(VPS9D1):c.587C>G (p.Ala196Gly)	VPS9D1, VPS9D1-AS1 (A196G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189063	NM_004913.3(VPS9D1):c.338G>A (p.Arg113His)	VPS9D1, VPS9D1-AS1 (R113H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3189062	NM_004913.3(VPS9D1):c.311T>C (p.Ile104Thr)	VPS9D1, VPS9D1-AS1 (I104T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3189061	NM_004913.3(VPS9D1):c.1676C>T (p.Pro559Leu)	VPS9D1 (P559L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189060	NM_004913.3(VPS9D1):c.1669G>A (p.Gly557Arg)	VPS9D1 (G557R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189059	NM_004913.3(VPS9D1):c.1510G>A (p.Ala504Thr)	VPS9D1 (A504T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189058	NM_004913.3(VPS9D1):c.1459G>A (p.Ala487Thr)	VPS9D1 (A487T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189057	NM_004913.3(VPS9D1):c.134A>G (p.Tyr45Cys)	VPS9D1 (Y45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189056	NM_004913.3(VPS9D1):c.1036C>T (p.Pro346Ser)	VPS9D1 (P346S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063459	GRCh37/hg19 16q24.3(chr16:89763758-89896259)x1	FANCA, SPATA2L +3 more	Copy number loss	not specified	GUncertain significance
Select item 2620949	NM_004913.3(VPS9D1):c.907G>T (p.Val303Leu)	VPS9D1 (V303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614041	NM_004913.3(VPS9D1):c.672C>G (p.Ser224Arg)	LOC130059833, VPS9D1 +1 more (S224R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2603000	NM_004913.3(VPS9D1):c.332A>C (p.His111Pro)	VPS9D1, VPS9D1-AS1 (H111P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2560428	NM_004913.3(VPS9D1):c.1774G>A (p.Ala592Thr)	VPS9D1 (A592T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529441	NM_004913.3(VPS9D1):c.1406G>A (p.Arg469Gln)	VPS9D1 (R469Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527038	NM_004913.3(VPS9D1):c.1532C>A (p.Ala511Glu)	VPS9D1 (A511E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526269	NM_004913.3(VPS9D1):c.154G>A (p.Glu52Lys)	VPS9D1 (E52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510879	NM_004913.3(VPS9D1):c.886T>C (p.Tyr296His)	VPS9D1 (Y296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494225	NM_004913.3(VPS9D1):c.405G>T (p.Gln135His)	VPS9D1, VPS9D1-AS1 (Q135H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2490110	NM_004913.3(VPS9D1):c.289A>T (p.Thr97Ser)	VPS9D1, VPS9D1-AS1 (T97S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2489452	NM_004913.3(VPS9D1):c.314C>G (p.Pro105Arg)	VPS9D1, VPS9D1-AS1 (P105R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2454369	NM_004913.3(VPS9D1):c.1301A>C (p.Asn434Thr)	VPS9D1 (N434T)	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 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 2422419	NC_000016.9:g.(?_89712474)_(89866066_?)del	CDK10, CHMP1A +5 more	Deletion	Fanconi anemia	GPathogenic
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 2405396	NM_004913.3(VPS9D1):c.1762G>A (p.Val588Met)	VPS9D1 (V588M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384882	NM_004913.3(VPS9D1):c.238G>C (p.Glu80Gln)	VPS9D1, VPS9D1-AS1 (E80Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2376126	NM_004913.3(VPS9D1):c.1747G>A (p.Gly583Ser)	VPS9D1 (G583S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360179	NM_004913.3(VPS9D1):c.866G>A (p.Arg289Lys)	VPS9D1 (R289K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353039	NM_004913.3(VPS9D1):c.1877G>A (p.Arg626Gln)	VPS9D1 (R626Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352583	NM_004913.3(VPS9D1):c.1570T>C (p.Cys524Arg)	VPS9D1 (C524R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347539	NM_004913.3(VPS9D1):c.835C>A (p.Leu279Ile)	VPS9D1 (L279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347445	NM_004913.3(VPS9D1):c.770C>G (p.Ala257Gly)	VPS9D1 (A257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333526	NM_004913.3(VPS9D1):c.1777G>T (p.Ala593Ser)	VPS9D1 (A593S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330328	NM_004913.3(VPS9D1):c.1531G>A (p.Ala511Thr)	VPS9D1 (A511T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312414	NM_004913.3(VPS9D1):c.280C>G (p.Leu94Val)	VPS9D1, VPS9D1-AS1 (L94V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2295030	NM_004913.3(VPS9D1):c.35C>T (p.Pro12Leu)	LOC130059835, VPS9D1 +1 more (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266897	NM_004913.3(VPS9D1):c.1213C>G (p.Leu405Val)	VPS9D1 (L405V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248206	NM_004913.3(VPS9D1):c.142C>G (p.Gln48Glu)	VPS9D1 (Q48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248205	NM_004913.3(VPS9D1):c.1144G>T (p.Asp382Tyr)	VPS9D1 (D382Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245930	NM_004913.3(VPS9D1):c.938G>A (p.Cys313Tyr)	VPS9D1 (C313Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220247	NM_004913.3(VPS9D1):c.1316A>G (p.Lys439Arg)	VPS9D1 (K439R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216788	NM_004913.3(VPS9D1):c.1643C>T (p.Pro548Leu)	VPS9D1 (P548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214243	NM_004913.3(VPS9D1):c.399G>T (p.Lys133Asn)	VPS9D1, VPS9D1-AS1 (K133N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2208609	NM_004913.3(VPS9D1):c.1346C>T (p.Pro449Leu)	VPS9D1 (P449L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207946	NM_004913.3(VPS9D1):c.23G>A (p.Gly8Asp)	LOC130059835, VPS9D1 +1 more (G8D)	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 1526556	GRCh37/hg19 16q24.3(chr16:89763758-89961958)	FANCA, SPATA2L +4 more	Copy number loss	not specified	GUncertain significance
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 1340715	GRCh37/hg19 16q24.3(chr16:89748800-89903843)x1	CDK10, FANCA +4 more	Copy number loss	not provided	GLikely benign
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 768806	NM_004913.3(VPS9D1):c.555A>G (p.Leu185=)	VPS9D1, VPS9D1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715687	NM_004913.3(VPS9D1):c.747T>C (p.His249=)	LOC130059833, VPS9D1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 689215	GRCh37/hg19 16q24.3(chr16:89662327-89927634)x1	CDK10, CHMP1A +8 more	Copy number loss	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 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564371	GRCh37/hg19 16q24.3(chr16:89748800-89961959)x1	SPIRE2, FANCA +5 more	Copy number loss	not provided	GUncertain significance
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 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 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
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

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