ClinVar for Gene (Select 25879) - ClinVar

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

Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270966	NM_015420.7(DCAF13):c.-12A>G	DCAF13	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3270965	NM_015420.7(DCAF13):c.68G>A (p.Arg23Lys)	DCAF13 (R23K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270964	NM_015420.7(DCAF13):c.548A>T (p.Glu183Val)	DCAF13 (E183V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270963	NM_015420.7(DCAF13):c.1229T>C (p.Met410Thr)	DCAF13 (M295T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270962	NM_015420.7(DCAF13):c.1234G>A (p.Glu412Lys)	DCAF13 (E297K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270960	NM_015420.7(DCAF13):c.1223G>A (p.Arg408His)	DCAF13 (R293H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245605	NC_000008.10:g.(?_104412639)_(104427165_?)del	DCAF13, SLC25A32	Deletion	not provided	GUncertain significance
Select item 3080270	NM_015420.7(DCAF13):c.529C>G (p.Gln177Glu)	DCAF13 (Q62E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080269	NM_015420.7(DCAF13):c.247C>T (p.Leu83Phe)	DCAF13 (L83F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080268	NM_015420.7(DCAF13):c.73C>T (p.Pro25Ser)	DCAF13 (P25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080267	NM_015420.7(DCAF13):c.-8C>G	DCAF13	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3080266	NM_015420.7(DCAF13):c.1247G>A (p.Arg416Gln)	DCAF13 (R416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684550	GRCh37/hg19 8q22.3(chr8:104054189-105048015)x3	ATP6V1C1, BAALC +5 more	Copy number gain	not provided	GUncertain significance
Select item 2658735	NM_015420.7(DCAF13):c.624+15del	DCAF13	Deletion (intron variant)	not provided	GLikely benign
Select item 2588570	NM_015420.7(DCAF13):c.743C>T (p.Pro248Leu)	DCAF13 (P133L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560569	NM_015420.7(DCAF13):c.352C>T (p.Arg118Cys)	DCAF13 (R118C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517872	NM_015420.7(DCAF13):c.691C>T (p.Pro231Ser)	DCAF13 (P231S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511475	NM_015420.7(DCAF13):c.1285T>A (p.Ser429Thr)	DCAF13 (S429T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508940	NM_015420.7(DCAF13):c.1166G>A (p.Arg389His)	DCAF13 (R274H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484469	NM_015420.7(DCAF13):c.1142T>G (p.Phe381Cys)	DCAF13 (F266C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2474259	NM_015420.7(DCAF13):c.763A>G (p.Thr255Ala)	DCAF13 (T140A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 2424157	NC_000008.10:g.(?_104412639)_(106815766_?)dup	DCAF13, DCSTAMP +5 more	Duplication	not provided	GUncertain significance
Select item 2410802	NM_015420.7(DCAF13):c.548A>G (p.Glu183Gly)	DCAF13 (E183G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403808	NM_015420.7(DCAF13):c.421C>T (p.Pro141Ser)	DCAF13 (P141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385197	NM_015420.6(DCAF13):c.278A>G (p.Asn93Ser)	DCAF13 (N93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380992	NM_015420.7(DCAF13):c.980A>G (p.His327Arg)	DCAF13 (H327R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2360969	NM_015420.6(DCAF13):c.262G>C (p.Glu88Gln)	DCAF13 (E88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355261	NM_015420.7(DCAF13):c.764C>T (p.Thr255Ile)	DCAF13 (T255I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322321	NM_015420.6(DCAF13):c.193C>T (p.Pro65Ser)	DCAF13 (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316622	NM_015420.7(DCAF13):c.571T>G (p.Ser191Ala)	DCAF13 (S191A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310733	NM_015420.7(DCAF13):c.248T>G (p.Leu83Arg)	DCAF13 (L83R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305795	NM_015420.6(DCAF13):c.334C>G (p.Arg112Gly)	DCAF13 (R112G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291513	NM_015420.7(DCAF13):c.535G>C (p.Asp179His)	DCAF13 (D179H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290093	NM_015420.7(DCAF13):c.406T>G (p.Trp136Gly)	DCAF13 (W136G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225185	NM_015420.6(DCAF13):c.157G>A (p.Ala53Thr)	DCAF13 (A53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210601	NM_015420.7(DCAF13):c.1114G>C (p.Asp372His)	DCAF13 (D372H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1808542	GRCh37/hg19 8q22.3(chr8:104370102-104770147)x1	CTHRC1, DCAF13 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527458	GRCh37/hg19 8q22.3(chr8:103969554-104480106)x3	SLC25A32, CTHRC1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1449127	NC_000008.10:g.(?_99135566)_(106815766_?)dup	ANKRD46, FZD6 +34 more	Duplication	Cohen syndrome	GUncertain significance
Select item 1269047	NC_000008.11:g.103415131A>C	DCAF13	Single nucleotide variant	not provided	GBenign
Select item 731721	NM_015420.6(DCAF13):c.210C>A (p.Ala70=)	DCAF13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723920	NM_015420.6(DCAF13):c.326C>G (p.Ala109Gly)	DCAF13 (A109G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 686305	GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1	ABRA, ANGPT1 +20 more	Copy number loss	not provided	GUncertain significance
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563493	GRCh37/hg19 8q22.3(chr8:104221791-104770147)x3	DCAF13, CTHRC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	ATP6V1C1, AZIN1 +154 more	Copy number loss	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 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

Links from Gene

Items: 83