ClinVar for Gene (Select 7264) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281274	NM_003313.4(GFUS):c.296A>G (p.His99Arg)	GFUS (H122R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281273	NM_003313.4(GFUS):c.137C>T (p.Ala46Val)	GFUS (A52V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281272	NM_003313.4(GFUS):c.320G>A (p.Arg107His)	GFUS (R113H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234123	NM_003313.4(GFUS):c.450C>T (p.Ile150=)	GFUS	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3099530	NM_003313.4(GFUS):c.949G>C (p.Glu317Gln)	GFUS (E323Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099529	NM_003313.4(GFUS):c.898C>G (p.Pro300Ala)	GFUS (P270A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099528	NM_003313.4(GFUS):c.890G>A (p.Arg297Gln)	GFUS (R226Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3099527	NM_003313.4(GFUS):c.848C>T (p.Thr283Ile)	GFUS (T291I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099526	NM_003313.4(GFUS):c.818C>T (p.Thr273Ile)	GFUS (T202I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099525	NM_003313.4(GFUS):c.797A>G (p.His266Arg)	GFUS (H311R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099524	NM_003313.4(GFUS):c.796C>T (p.His266Tyr)	GFUS (H195Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099523	NM_003313.4(GFUS):c.734G>A (p.Gly245Asp)	GFUS (G290D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099522	NM_003313.4(GFUS):c.640C>T (p.Arg214Trp)	GFUS (R143W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099521	NM_003313.4(GFUS):c.634A>G (p.Asn212Asp)	GFUS (N182D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099520	NM_003313.4(GFUS):c.624G>C (p.Trp208Cys)	GFUS (W178C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099519	NM_003313.4(GFUS):c.608C>T (p.Ser203Leu)	GFUS (S211L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099518	NM_003313.4(GFUS):c.448A>G (p.Ile150Val)	GFUS (I158V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099517	NM_003313.4(GFUS):c.409C>G (p.His137Asp)	GFUS (H145D +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099516	NM_003313.4(GFUS):c.398A>G (p.Asn133Ser)	GFUS (N133S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099515	NM_003313.4(GFUS):c.374C>T (p.Pro125Leu)	GFUS (P131L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099514	NM_003313.4(GFUS):c.289G>A (p.Val97Ile)	GFUS (V105I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099513	NM_003313.4(GFUS):c.240C>G (p.Ile80Met)	GFUS (I125M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099512	NM_003313.4(GFUS):c.196G>A (p.Val66Ile)	GFUS (V66I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099511	NM_003313.4(GFUS):c.163C>T (p.Arg55Cys)	GFUS (R78C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3099510	NM_003313.4(GFUS):c.128C>T (p.Ser43Phe)	GFUS (S43F +3 more)	Single nucleotide variant (missense variant +3 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 2792294	NM_003313.4(GFUS):c.-12+43C>T	GFUS (L2F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 2658904	NM_003313.4(GFUS):c.775G>T (p.Val259Leu)	GFUS (V188L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2595691	NM_003313.4(GFUS):c.694C>T (p.Arg232Trp)	GFUS (R255W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557707	NM_003313.4(GFUS):c.911C>T (p.Ala304Val)	GFUS (A274V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541174	NM_003313.4(GFUS):c.566C>T (p.Pro189Leu)	GFUS (P118L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532581	NM_003313.4(GFUS):c.773C>T (p.Ala258Val)	GFUS (A228V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486310	NM_003313.4(GFUS):c.439A>G (p.Lys147Glu)	GFUS (K192E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465724	NM_003313.4(GFUS):c.769G>A (p.Glu257Lys)	GFUS (E186K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461862	NM_003313.4(GFUS):c.547G>A (p.Glu183Lys)	GFUS (E112K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460839	NM_003313.4(GFUS):c.299C>T (p.Ser100Leu)	GFUS (S100L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460695	NM_003313.4(GFUS):c.958C>G (p.Arg320Gly)	GFUS (R249G +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455496	NM_003313.4(GFUS):c.475C>G (p.Gln159Glu)	GFUS (Q88E +6 more)	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 1285818	NM_003313.4(GFUS):c.*27C>T	GFUS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1283720	NM_003313.4(GFUS):c.147-141C>T	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282762	NM_003313.4(GFUS):c.*190C>G	GFUS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1276489	NM_003313.4(GFUS):c.911-41G>A	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274586	NM_003313.4(GFUS):c.306T>C (p.Phe102=)	GFUS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1262449	NM_003313.4(GFUS):c.730+54T>C	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258748	NM_003313.4(GFUS):c.910+48C>T	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252520	NM_003313.4(GFUS):c.663+131A>G	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235492	NM_003313.4(GFUS):c.811-101G>A	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229700	NM_003313.4(GFUS):c.811-34G>T	GFUS	Single nucleotide variant (intron variant)	not provided	GBenign
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 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

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