ClinVar for Gene (Select 81858) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318224	NM_030974.4(SHARPIN):c.1137G>C (p.Trp379Cys)	SHARPIN (W379C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318223	NM_030974.4(SHARPIN):c.1118C>T (p.Thr373Ile)	SHARPIN (T373I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318222	NM_030974.4(SHARPIN):c.884C>G (p.Ala295Gly)	SHARPIN (A295G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318221	NM_030974.4(SHARPIN):c.805C>T (p.Arg269Cys)	SHARPIN (R269C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242323	GRCh37/hg19 8q24.3(chr8:145033578-146296885)x3	ADCK5, ARHGAP39 +44 more	Copy number gain	not provided	GUncertain significance
Select item 3233310	NM_030974.4(SHARPIN):c.613_614del (p.Leu205fs)	SHARPIN (L205fs)	Deletion (frameshift variant +1 more)	Autoinflammation with episodic fever and immune dysregulation	GPathogenic
Select item 3233309	NM_030974.4(SHARPIN):c.220dup (p.Leu74fs)	SHARPIN (L74fs)	Duplication (frameshift variant +1 more)	Autoinflammation with episodic fever and immune dysregulation	GPathogenic
Select item 3161563	NM_030974.4(SHARPIN):c.961G>A (p.Gly321Arg)	SHARPIN (G321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161562	NM_030974.4(SHARPIN):c.945C>G (p.His315Gln)	SHARPIN (H315Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161561	NM_030974.4(SHARPIN):c.693C>T (p.Ala231=)	SHARPIN	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3161559	NM_030974.4(SHARPIN):c.550G>C (p.Ala184Pro)	SHARPIN (A184P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161558	NM_030974.4(SHARPIN):c.542G>A (p.Arg181Gln)	SHARPIN (R181Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3161557	NM_030974.4(SHARPIN):c.541C>T (p.Arg181Trp)	SHARPIN (R181W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161555	NM_030974.4(SHARPIN):c.422C>T (p.Pro141Leu)	SHARPIN (P141L)	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	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684562	GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3	ADCK5, ARHGAP39 +40 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 2658970	NM_030974.4(SHARPIN):c.143C>G (p.Ala48Gly)	LOC130001366, SHARPIN (A48G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2606191	NM_030974.4(SHARPIN):c.184G>C (p.Gly62Arg)	LOC130001366, SHARPIN (G62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551210	NM_030974.4(SHARPIN):c.1097C>G (p.Pro366Arg)	SHARPIN (P366R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551138	NM_030974.4(SHARPIN):c.353G>T (p.Gly118Val)	SHARPIN (G118V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540888	NM_030974.4(SHARPIN):c.484C>T (p.Leu162Phe)	SHARPIN (L162F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536704	NM_030974.4(SHARPIN):c.577C>G (p.Gln193Glu)	SHARPIN (Q193E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523106	NM_030974.4(SHARPIN):c.734A>G (p.His245Arg)	SHARPIN (H245R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480646	NM_030974.4(SHARPIN):c.94G>C (p.Gly32Arg)	LOC130001367, SHARPIN (G32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480399	NM_030974.4(SHARPIN):c.550G>A (p.Ala184Thr)	SHARPIN (A184T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471925	NM_030974.4(SHARPIN):c.568G>C (p.Gly190Arg)	SHARPIN (G190R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466884	NM_030974.4(SHARPIN):c.1061G>A (p.Cys354Tyr)	SHARPIN (C354Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404173	NM_030974.4(SHARPIN):c.492G>C (p.Arg164Ser)	SHARPIN (R164S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378017	NM_030974.4(SHARPIN):c.22G>A (p.Ala8Thr)	LOC130001367, SHARPIN (A8T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336658	NM_030974.4(SHARPIN):c.1042C>T (p.Leu348Phe)	SHARPIN (L348F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335018	NM_030974.4(SHARPIN):c.806G>A (p.Arg269His)	SHARPIN (R269H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334953	NM_030974.4(SHARPIN):c.424G>A (p.Val142Ile)	SHARPIN (V142I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327057	NM_030974.4(SHARPIN):c.916G>T (p.Ala306Ser)	SHARPIN (A306S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319742	NM_030974.4(SHARPIN):c.607G>A (p.Val203Met)	SHARPIN (V203M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307203	NM_030974.4(SHARPIN):c.842G>A (p.Arg281His)	SHARPIN (R281H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302962	NM_030974.4(SHARPIN):c.638G>C (p.Cys213Ser)	SHARPIN (C213S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276004	NM_030974.4(SHARPIN):c.290G>C (p.Gly97Ala)	SHARPIN (G97A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272600	NM_030974.4(SHARPIN):c.513G>C (p.Glu171Asp)	SHARPIN (E171D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268977	NM_030974.4(SHARPIN):c.277C>T (p.Pro93Ser)	SHARPIN (P93S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261782	NM_030974.4(SHARPIN):c.743G>A (p.Cys248Tyr)	SHARPIN (C248Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241297	NM_030974.4(SHARPIN):c.643C>T (p.Pro215Ser)	SHARPIN (P215S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208342	NM_030974.4(SHARPIN):c.382A>G (p.Lys128Glu)	SHARPIN (K128E)	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 1527472	GRCh37/hg19 8q24.3(chr8:144725942-145508436)	BOP1, CCDC166 +22 more	Copy number gain	not specified	GUncertain significance
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 1235716	NM_030974.4(SHARPIN):c.50C>T (p.Ser17Phe)	LOC130001367, SHARPIN (S17F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1004495	NC_000008.10:g.(?_145047561)_(145701149_?)dup	TONSL, VPS28 +27 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 988937	GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3	HGH1, MIR1234 +44 more	Copy number gain	not provided	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 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 711023	NM_030974.4(SHARPIN):c.517+9G>T	SHARPIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710592	NM_030974.4(SHARPIN):c.1094G>A (p.Arg365His)	SHARPIN (R365H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 665049	NC_000008.10:g.(?_144990335)_(145701149_?)dup	ADCK5, BOP1 +28 more	Duplication	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 652960	NC_000008.10:g.(?_144990325)_(145700664_?)dup	ADCK5, BOP1 +28 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 625552	GRCh37/hg19 8q24.3(chr8:144879444-145199846)	CYC1, EPPK1 +14 more	Copy number loss	8q24.3 microdeletion syndrome	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 441954	GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3	ADCK5, ARHGAP39 +50 more	Copy number gain	See cases	GUncertain significance
Select item 403435	NC_000008.11:g.144105743T>C	MAF1, SHARPIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 403434	NM_030974.4(SHARPIN):c.154C>A (p.Arg52=)	LOC130001366, SHARPIN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 403433	NM_030974.4(SHARPIN):c.201+10G>A	LOC130001366, SHARPIN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 403432	NM_030974.4(SHARPIN):c.880C>T (p.Pro294Ser)	SHARPIN (P294S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
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 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

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