ClinVar for Gene (Select 148) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273706	NM_000680.4(ADRA1A):c.378C>G (p.Ile126Met)	ADRA1A (I126M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273699	NM_000680.4(ADRA1A):c.915A>C (p.Glu305Asp)	ADRA1A (E305D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273688	NM_000680.4(ADRA1A):c.1315T>C (p.Ser439Pro)	ADRA1A (S439P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090542	NM_000680.4(ADRA1A):c.661G>A (p.Gly221Ser)	ADRA1A (G221S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090537	NM_000680.4(ADRA1A):c.646C>G (p.Arg216Gly)	ADRA1A (R216G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090520	NM_000680.4(ADRA1A):c.452G>C (p.Trp151Ser)	ADRA1A (W151S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090515	NM_000680.4(ADRA1A):c.376A>C (p.Ile126Leu)	ADRA1A (I126L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090512	NM_000680.4(ADRA1A):c.289G>T (p.Val97Phe)	ADRA1A (V97F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090501	NM_000680.4(ADRA1A):c.227C>T (p.Thr76Ile)	ADRA1A (T76I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090484	NM_000680.4(ADRA1A):c.1321C>G (p.Pro441Ala)	ADRA1A (P441A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090481	NM_000680.4(ADRA1A):c.1268G>A (p.Arg423Gln)	ADRA1A (R423Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090479	NM_000680.4(ADRA1A):c.1235T>C (p.Val412Ala)	ADRA1A (V412A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090468	NM_000680.4(ADRA1A):c.1031A>C (p.Gln344Pro)	ADRA1A (Q344P)	Single nucleotide variant (missense variant +1 more)	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 3063019	GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1	ADAM28, ADAM7 +39 more	Copy number loss	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 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	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 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2568452	NM_000680.4(ADRA1A):c.404C>T (p.Pro135Leu)	ADRA1A (P135L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545872	NM_000680.4(ADRA1A):c.1088C>G (p.Pro363Arg)	ADRA1A (P363R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544369	NM_000680.4(ADRA1A):c.869T>C (p.Leu290Ser)	ADRA1A (L290S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517772	NM_000680.4(ADRA1A):c.1040G>A (p.Cys347Tyr)	ADRA1A (C347Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515124	NM_000680.4(ADRA1A):c.566C>A (p.Ala189Glu)	ADRA1A (A189E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507607	NM_000680.4(ADRA1A):c.212C>A (p.Ala71Asp)	ADRA1A (A71D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479570	NM_000680.4(ADRA1A):c.175T>C (p.Ser59Pro)	ADRA1A (S59P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479569	NM_000680.4(ADRA1A):c.173A>C (p.His58Pro)	ADRA1A (H58P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476111	NM_000680.4(ADRA1A):c.475A>G (p.Ile159Val)	ADRA1A (I159V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463887	NM_000680.4(ADRA1A):c.142A>G (p.Ile48Val)	ADRA1A (I48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459897	NM_000680.4(ADRA1A):c.737G>A (p.Ser246Asn)	ADRA1A (S246N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390617	NM_000680.4(ADRA1A):c.743T>C (p.Met248Thr)	ADRA1A (M248T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373253	NM_000680.4(ADRA1A):c.877C>T (p.Pro293Ser)	ADRA1A (P293S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319444	NM_000680.4(ADRA1A):c.673G>C (p.Asp225His)	ADRA1A (D225H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313357	NM_000680.4(ADRA1A):c.461C>T (p.Ser154Phe)	ADRA1A (S154F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309295	NM_000680.4(ADRA1A):c.1387G>A (p.Gly463Arg)	ADRA1A (G463R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267668	NM_000680.4(ADRA1A):c.22G>T (p.Ala8Ser)	ADRA1A (A8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226166	NM_000680.4(ADRA1A):c.155C>T (p.Ala52Val)	ADRA1A (A52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	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)	AARD, ABRA +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 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 815115	GRCh37/hg19 8p21.2(chr8:26594052-26663554)x1	ADRA1A	Copy number loss	not provided	GUncertain significance
Select item 815113	GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1	ADAM7, ADRA1A +30 more	Copy number loss	not provided	GPathogenic
Select item 782112	NM_000680.4(ADRA1A):c.819G>T (p.Thr273=)	ADRA1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778029	NM_000680.4(ADRA1A):c.460T>G (p.Ser154Ala)	ADRA1A (S154A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 775260	NM_000680.4(ADRA1A):c.462C>G (p.Ser154=)	ADRA1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 729684	NM_000680.4(ADRA1A):c.723C>A (p.Ala241=)	ADRA1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 721114	NM_000680.4(ADRA1A):c.1203T>G (p.Ser401=)	ADRA1A	Single nucleotide variant (synonymous variant +1 more)	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 686366	GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1	ADAM28, ADAM7 +37 more	Copy number loss	not provided	GPathogenic
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	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 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563527	GRCh37/hg19 8p21.2(chr8:24948124-26895609)x1	PPP2R2A, DOCK5 +8 more	Copy number loss	not provided	GUncertain significance
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 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 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
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 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395721	GRCh37/hg19 8p21.2-12(chr8:24514488-34808438)	ADRA1A, BNIP3L +51 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 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	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 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
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 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 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 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 149021	GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1	LOC124153126, LOC124153127 +257 more	Copy number loss	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
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 146887	GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic

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