DCAF13[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	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
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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 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 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 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 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 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 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 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 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 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 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	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 1269047	NC_000008.11:g.103415131A>C	DCAF13	Single nucleotide variant	not provided	GBenign
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 2322321	NM_015420.6(DCAF13):c.193C>T (p.Pro65Ser)	DCAF13 (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731721	NM_015420.6(DCAF13):c.210C>A (p.Ala70=)	DCAF13	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2385197	NM_015420.6(DCAF13):c.278A>G (p.Asn93Ser)	DCAF13 (N93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723920	NM_015420.6(DCAF13):c.326C>G (p.Ala109Gly)	DCAF13 (A109G)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3270966	NM_015420.7(DCAF13):c.-12A>G	DCAF13	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3080267	NM_015420.7(DCAF13):c.-8C>G	DCAF13	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 2658735	NM_015420.7(DCAF13):c.624+15del	DCAF13	Deletion (intron variant)	not provided	GLikely benign
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 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 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 2355261	NM_015420.7(DCAF13):c.764C>T (p.Thr255Ile)	DCAF13 (T255I)	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 2210601	NM_015420.7(DCAF13):c.1114G>C (p.Asp372His)	DCAF13 (D372H)	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 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 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 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 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 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 3245605	NC_000008.10:g.(?_104412639)_(104427165_?)del	DCAF13, SLC25A32	Deletion	not provided	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 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 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, ATP6V1C1 +34 more	Duplication	Cohen syndrome	GUncertain significance
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

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Items: 83