ClinVar for Gene (Select 137970) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3466114	NM_080872.4(UNC5D):c.194T>G (p.Ile65Ser)	UNC5D (I60S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3466113	NM_080872.4(UNC5D):c.1447G>A (p.Val483Met)	UNC5D (V478M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3466112	NM_080872.4(UNC5D):c.1121T>C (p.Ile374Thr)	UNC5D (I374T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3466111	NM_080872.4(UNC5D):c.866C>A (p.Ala289Asp)	LOC101929550, UNC5D (A284D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3466110	NM_080872.4(UNC5D):c.2470A>G (p.Ile824Val)	UNC5D (I819V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3466109	NM_080872.4(UNC5D):c.1767C>G (p.Ser589Arg)	UNC5D (S589R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3466108	NM_080872.4(UNC5D):c.2380C>T (p.Arg794Cys)	UNC5D (R789C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3466107	NM_080872.4(UNC5D):c.2477A>C (p.Glu826Ala)	UNC5D (E759A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392076	GRCh37/hg19 8p12-11.23(chr8:35222476-36798252)x3	KCNU1, UNC5D	Copy number gain	not provided	GUncertain significance
Select item 3392075	GRCh37/hg19 8p12(chr8:34700488-35650643)x3	UNC5D	Copy number gain	not provided	GUncertain significance
Select item 3331074	NM_080872.4(UNC5D):c.2566T>C (p.Ser856Pro)	UNC5D (S789P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331073	NM_080872.4(UNC5D):c.335G>A (p.Arg112His)	UNC5D (R107H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331072	NM_080872.4(UNC5D):c.1355G>A (p.Arg452Gln)	UNC5D (R452Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186647	NM_080872.4(UNC5D):c.713C>T (p.Ala238Val)	LOC101929550, UNC5D (A233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186646	NM_080872.4(UNC5D):c.43C>T (p.Arg15Cys)	UNC5D (R15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186645	NM_080872.4(UNC5D):c.388G>A (p.Glu130Lys)	UNC5D (E125K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186644	NM_080872.4(UNC5D):c.332T>G (p.Val111Gly)	UNC5D (V106G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186643	NM_080872.4(UNC5D):c.265G>A (p.Gly89Ser)	UNC5D (G84S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186642	NM_080872.4(UNC5D):c.2486G>A (p.Arg829Gln)	UNC5D (R824Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186641	NM_080872.4(UNC5D):c.23C>G (p.Ala8Gly)	UNC5D (A8G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186639	NM_080872.4(UNC5D):c.2263C>G (p.Leu755Val)	UNC5D (L750V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186638	NM_080872.4(UNC5D):c.211A>G (p.Ile71Val)	UNC5D (I66V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186637	NM_080872.4(UNC5D):c.2077G>A (p.Val693Met)	UNC5D (V693M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186636	NM_080872.4(UNC5D):c.1841C>T (p.Thr614Ile)	UNC5D (T547I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186635	NM_080872.4(UNC5D):c.1366G>A (p.Gly456Arg)	UNC5D (G451R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186634	NM_080872.4(UNC5D):c.1354C>T (p.Arg452Trp)	UNC5D (R385W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186633	NM_080872.4(UNC5D):c.1171G>A (p.Val391Met)	UNC5D (V386M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186632	NM_080872.4(UNC5D):c.1160G>A (p.Gly387Asp)	UNC5D (G320D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186631	NM_080872.4(UNC5D):c.1135G>A (p.Asp379Asn)	UNC5D (D374N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
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 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2617424	NM_080872.4(UNC5D):c.2804T>G (p.Ile935Ser)	UNC5D (I935S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612141	NM_080872.4(UNC5D):c.1915A>G (p.Thr639Ala)	UNC5D (T572A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609375	NM_080872.4(UNC5D):c.40G>A (p.Ala14Thr)	UNC5D (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608240	NM_080872.4(UNC5D):c.1052C>A (p.Ser351Tyr)	LOC101929550, UNC5D (S346Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607492	NM_080872.4(UNC5D):c.695T>G (p.Met232Arg)	LOC101929550, UNC5D (M227R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595957	NM_080872.4(UNC5D):c.130G>A (p.Glu44Lys)	UNC5D (E39K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553464	NM_080872.4(UNC5D):c.286G>A (p.Glu96Lys)	UNC5D (E96K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535506	NM_080872.4(UNC5D):c.1118G>A (p.Ser373Asn)	UNC5D (S373N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531611	NM_080872.4(UNC5D):c.511C>T (p.Pro171Ser)	UNC5D (P171S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518969	NM_080872.4(UNC5D):c.1967C>A (p.Ser656Tyr)	UNC5D (S656Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516723	NM_080872.4(UNC5D):c.2095A>C (p.Met699Leu)	UNC5D (M632L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507715	NM_080872.4(UNC5D):c.1639G>A (p.Val547Ile)	UNC5D (V542I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484883	NM_080872.4(UNC5D):c.2231A>G (p.Lys744Arg)	UNC5D (K677R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484280	NM_080872.4(UNC5D):c.2579G>A (p.Arg860Gln)	UNC5D (R855Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407947	NM_080872.4(UNC5D):c.230C>T (p.Ala77Val)	UNC5D (A72V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403671	NM_080872.4(UNC5D):c.2329C>T (p.Arg777Cys)	UNC5D (R772C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393271	NM_080872.4(UNC5D):c.177G>T (p.Glu59Asp)	UNC5D (E59D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373868	NM_080872.4(UNC5D):c.676T>G (p.Ser226Ala)	LOC101929550, UNC5D (S221A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330491	NM_080872.4(UNC5D):c.91G>T (p.Ala31Ser)	UNC5D (A31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272406	NM_080872.4(UNC5D):c.2107T>C (p.Ser703Pro)	UNC5D (S636P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272143	NM_080872.4(UNC5D):c.1913G>C (p.Arg638Thr)	UNC5D (R633T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236844	NM_080872.4(UNC5D):c.2015G>A (p.Ser672Asn)	UNC5D (S605N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	ADGRB1, ADHFE1 +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980294	GRCh37/hg19 8p12(chr8:35646006-36293794)x3	UNC5D	Copy number gain	not provided	GUncertain significance
Select item 815119	GRCh37/hg19 8p12(chr8:35617087-36180530)x3	UNC5D	Copy number gain	not provided	GUncertain significance
Select item 778358	NM_080872.4(UNC5D):c.12G>T (p.Ala4=)	UNC5D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714379	NM_080872.4(UNC5D):c.336C>T (p.Arg112=)	UNC5D	Single nucleotide variant (synonymous 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 685669	GRCh37/hg19 8p12(chr8:29103983-35728509)x1	DCTN6, DUSP26 +20 more	Copy number loss	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563546	GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3	ADGRA2, BAG4 +41 more	Copy number gain	not provided	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 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442479	GRCh37/hg19 8p12(chr8:33817427-35457194)x1	UNC5D	Copy number loss	See cases	GUncertain significance
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 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 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 155069	GRCh38/hg38 8p12(chr8:35769432-36312173)x3	LOC126860352, LOC126860353 +1 more	Copy number gain	See cases	GUncertain significance
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 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 151191	GRCh38/hg38 8p12(chr8:30368765-36421541)x3	DUSP26, FUT10 +85 more	Copy number gain	See cases	GUncertain significance
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 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 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic

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