ClinVar for Gene (Select 65263) - ClinVar

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Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311867	NM_023078.6(PYCR3):c.442G>A (p.Glu148Lys)	PYCR3 (E148K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311866	NM_023078.6(PYCR3):c.20C>T (p.Ser7Phe)	PYCR3 (S7F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311864	NM_023078.6(PYCR3):c.-27G>A	PYCR3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3311863	NM_023078.6(PYCR3):c.781G>A (p.Val261Met)	PYCR3 (V241M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311862	NM_023078.6(PYCR3):c.761G>A (p.Arg254Gln)	PYCR3 (R254Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150181	NM_023078.6(PYCR3):c.56T>C (p.Met19Thr)	PYCR3 (M19T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150179	NM_023078.6(PYCR3):c.799C>T (p.Arg267Trp)	PYCR3 (R267W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150178	NM_023078.6(PYCR3):c.758T>C (p.Leu253Pro)	PYCR3 (L233P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150177	NM_023078.6(PYCR3):c.734T>C (p.Leu245Pro)	PYCR3 (L225P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150176	NM_023078.6(PYCR3):c.674A>C (p.Gln225Pro)	PYCR3 (Q205P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150175	NM_023078.6(PYCR3):c.508G>A (p.Val170Ile)	PYCR3 (V170I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150174	NM_023078.6(PYCR3):c.482G>A (p.Arg161Gln)	PYCR3 (R141Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150172	NM_023078.6(PYCR3):c.470A>C (p.Glu157Ala)	PYCR3 (E137A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150171	NM_023078.6(PYCR3):c.419G>A (p.Arg140Gln)	PYCR3 (R140Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150170	NM_023078.6(PYCR3):c.377A>G (p.Asn126Ser)	PYCR3 (N126S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150169	NM_023078.6(PYCR3):c.365G>A (p.Arg122Gln)	PYCR3 (R122Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150168	NM_023078.6(PYCR3):c.2T>C (p.Met1Thr)	PYCR3 (M1T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150167	NM_023078.6(PYCR3):c.349A>G (p.Asn117Asp)	PYCR3 (N117D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150166	NM_023078.6(PYCR3):c.323G>A (p.Ser108Asn)	PYCR3 (S108N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150165	NM_023078.6(PYCR3):c.274G>T (p.Val92Phe)	PYCR3 (V92F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150164	NM_023078.6(PYCR3):c.271G>T (p.Val91Leu)	PYCR3 (V91L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150162	NM_023078.6(PYCR3):c.-14T>C	PYCR3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3150161	NM_023078.6(PYCR3):c.169C>T (p.Arg57Trp)	PYCR3 (R57W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150160	NM_023078.6(PYCR3):c.125C>T (p.Ala42Val)	PYCR3 (A42V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	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 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	GML, KCNQ3 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684561	GRCh37/hg19 8q24.3(chr8:144282591-144740223)x3	EEF1D, GFUS +14 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2658903	NM_023078.6(PYCR3):c.124G>A (p.Ala42Thr)	PYCR3 (A42T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2601717	NM_023078.6(PYCR3):c.816C>G (p.Ser272Arg)	PYCR3 (S252R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592336	NM_023078.6(PYCR3):c.778G>A (p.Ala260Thr)	PYCR3 (A240T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589488	NM_023078.6(PYCR3):c.416C>T (p.Ala139Val)	PYCR3 (A139V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519024	NM_023078.6(PYCR3):c.619C>T (p.Arg207Cys)	PYCR3 (R187C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514907	NM_023078.6(PYCR3):c.214G>A (p.Val72Ile)	PYCR3 (V72I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494781	NM_023078.6(PYCR3):c.794C>T (p.Thr265Ile)	PYCR3 (T265I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478288	NM_023078.6(PYCR3):c.23C>A (p.Pro8Gln)	PYCR3 (P8Q)	Single nucleotide variant (missense variant +1 more)	not specified	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 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815175	GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1	ADGRB1, ARC +37 more	Copy number loss	not provided	GPathogenic
Select item 815173	GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1	ADGRB1, ARC +62 more	Copy number loss	not provided	GPathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
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 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 563531	GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	ZFP41, ZFTRAF1 +80 more	Copy number gain	not provided	GPathogenic
Select item 523293	GRCh37/hg19 8q24.3(chr8:142840194-146280020)	CYP11B1, KIFC2 +86 more	Copy number gain	Intellectual disability	GPathogenic
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 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442205	GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	See cases	GLikely pathogenic
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 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 394633	GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3	ADCK5, ADGRB1 +101 more	Copy number gain	See cases	GPathogenic
Select item 161767	NM_023078.6(PYCR3):c.16C>T (p.Pro6Ser)	PYCR3 (P6S)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
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 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	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 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 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	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 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 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 93