30129[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 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 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 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 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 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 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 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 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 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 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	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 1230258	NM_001145860.2(POP1):c.-2-127A>G	POP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2016061	NM_001145860.2(POP1):c.5C>G (p.Ser2Ter)	POP1 (S2*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2171220	NM_001145860.2(POP1):c.8A>G (p.Asn3Ser)	POP1 (N3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450279	NM_001145860.2(POP1):c.10G>C (p.Ala4Pro)	POP1 (A4P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724459	NM_001145860.2(POP1):c.10G>A (p.Ala4Thr)	POP1 (A4T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1982737	NM_001145860.2(POP1):c.14A>G (p.Lys5Arg)	POP1 (K5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 754666	NM_001145860.2(POP1):c.27C>T (p.His9=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002571	NM_001145860.2(POP1):c.54C>T (p.Thr18=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809451	NM_001145860.2(POP1):c.64C>T (p.Leu22=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519057	NM_001145860.2(POP1):c.74G>A (p.Gly25Asp)	POP1 (G25D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2322171	NM_001145860.2(POP1):c.130G>C (p.Ala44Pro)	POP1 (A44P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2859983	NM_001145860.2(POP1):c.138A>G (p.Lys46=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389082	NM_001145860.2(POP1):c.142+5A>G	POP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1257824	NM_001145860.2(POP1):c.142+80A>G	POP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269370	NM_001145860.2(POP1):c.142+311dup	POP1	Duplication (intron variant)	not provided	GBenign
Select item 1267711	NM_001145860.2(POP1):c.143-213C>T	POP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2170341	NM_001145860.2(POP1):c.143-5A>G	POP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 285622	NM_001145860.2(POP1):c.163C>T (p.Arg55Ter)	POP1 (R55*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1372425	NM_001145860.2(POP1):c.164G>A (p.Arg55Gln)	POP1 (R55Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190663	NM_001145860.2(POP1):c.170G>A (p.Arg57Gln)	POP1 (R57Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 737195	NM_001145860.2(POP1):c.171G>A (p.Arg57=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1410157	NM_001145860.2(POP1):c.194C>G (p.Ser65Cys)	POP1 (S65C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2622569	NM_001145860.2(POP1):c.197T>C (p.Leu66Pro)	POP1 (L66P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709344	NM_001145860.2(POP1):c.221A>G (p.Gln74Arg)	POP1 (Q74R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2989406	NM_001145860.2(POP1):c.222G>A (p.Gln74=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050944	NM_001145860.2(POP1):c.228C>T (p.Ser76=)	POP1	Single nucleotide variant (synonymous variant)	POP1-related disorder	GLikely benign
Select item 3216771	NM_001145860.2(POP1):c.238A>T (p.Met80Leu)	POP1 (M80L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1403362	NM_001145860.2(POP1):c.239T>A (p.Met80Lys)	POP1 (M80K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1503853	NM_001145860.2(POP1):c.256G>C (p.Gly86Arg)	POP1 (G86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915458	NM_001145860.2(POP1):c.258A>T (p.Gly86=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723125	NM_001145860.2(POP1):c.258A>G (p.Gly86=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905633	NM_001145860.2(POP1):c.273C>T (p.Pro91=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416790	NM_001145860.2(POP1):c.304A>G (p.Ile102Val)	POP1 (I102V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996428	NM_001145860.2(POP1):c.310+8C>T	POP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289578	NM_001145860.2(POP1):c.310+218T>G	POP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249723	NM_001145860.2(POP1):c.311-214T>G	POP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250009	NM_001145860.2(POP1):c.311-49=	POP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2975670	NM_001145860.2(POP1):c.311-2A>G	POP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3308916	NM_001145860.2(POP1):c.313T>C (p.Ser105Pro)	POP1 (S105P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727236	NM_001145860.2(POP1):c.327A>G (p.Gln109=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568926	NM_001145860.2(POP1):c.342A>G (p.Glu114=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2545992	NM_001145860.2(POP1):c.352A>G (p.Met118Val)	POP1 (M118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1348373	NM_001145860.2(POP1):c.368C>T (p.Thr123Ile)	POP1 (T123I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2266753	NM_001145860.2(POP1):c.370C>G (p.Gln124Glu)	POP1 (Q124E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196530	NM_001145860.2(POP1):c.380C>T (p.Ser127Leu)	POP1 (S127L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1536783	NM_001145860.2(POP1):c.387A>G (p.Ser129=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938532	NM_001145860.2(POP1):c.409C>T (p.Arg137Trp)	POP1 (R137W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395576	NM_001145860.2(POP1):c.410G>A (p.Arg137Gln)	POP1 (R137Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923089	NM_001145860.2(POP1):c.418C>T (p.Arg140Ter)	POP1 (R140*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2328125	NM_001145860.2(POP1):c.419G>A (p.Arg140Gln)	POP1 (R140Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3001580	NM_001145860.2(POP1):c.421C>T (p.Arg141Ter)	POP1 (R141*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1501885	NM_001145860.2(POP1):c.427G>A (p.Ala143Thr)	POP1 (A143T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923399	NM_001145860.2(POP1):c.431T>C (p.Met144Thr)	POP1 (M144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567981	NM_001145860.2(POP1):c.441C>T (p.Asn147=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389910	NM_001145860.2(POP1):c.442G>A (p.Val148Ile)	POP1 (V148I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698244	NM_001145860.2(POP1):c.449G>A (p.Arg150His)	POP1 (R150H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068111	NM_001145860.2(POP1):c.486+2T>C	POP1	Single nucleotide variant (splice donor variant)	Anauxetic dysplasia 2	GLikely pathogenic
Select item 1536462	NM_001145860.2(POP1):c.486+13C>T	POP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923006	NM_001145860.2(POP1):c.486+14T>G	POP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959570	NM_001145860.2(POP1):c.487-16C>T	POP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2159907	NM_001145860.2(POP1):c.487-6C>T	POP1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 734570	NM_001145860.2(POP1):c.487G>A (p.Ala163Thr)	POP1 (A163T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1435342	NM_001145860.2(POP1):c.488C>T (p.Ala163Val)	POP1 (A163V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180956	NM_001145860.2(POP1):c.496G>C (p.Ala166Pro)	POP1 (A166P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1540212	NM_001145860.2(POP1):c.498C>T (p.Ala166=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2595713	NM_001145860.2(POP1):c.499G>A (p.Val167Ile)	POP1 (V167I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1410275	NM_001145860.2(POP1):c.503A>G (p.His168Arg)	POP1 (H168R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1449780	NM_001145860.2(POP1):c.505C>G (p.Gln169Glu)	POP1 (Q169E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2959273	NM_001145860.2(POP1):c.544C>A (p.Arg182=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371190	NM_001145860.2(POP1):c.548G>A (p.Arg183Lys)	POP1 (R183K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504923	NM_001145860.2(POP1):c.556A>G (p.Met186Val)	POP1 (M186V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2545634	NM_001145860.2(POP1):c.562C>T (p.Arg188Trp)	POP1 (R188W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2058454	NM_001145860.2(POP1):c.562C>G (p.Arg188Gly)	POP1 (R188G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1368340	NM_001145860.2(POP1):c.566C>T (p.Thr189Met)	POP1 (T189M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2113229	NM_001145860.2(POP1):c.567G>A (p.Thr189=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1431906	NM_001145860.2(POP1):c.580C>T (p.Arg194Cys)	POP1 (R194C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3216779	NM_001145860.2(POP1):c.581G>A (p.Arg194His)	POP1 (R194H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262452	NM_001145860.2(POP1):c.595A>T (p.Asn199Tyr)	POP1 (N199Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066988	NM_001145860.2(POP1):c.624C>T (p.His208=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548135	NM_001145860.2(POP1):c.642G>C (p.Met214Ile)	POP1 (M214I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398286	NM_001145860.2(POP1):c.668G>C (p.Gly223Ala)	POP1 (G223A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2118992	NM_001145860.2(POP1):c.675G>A (p.Arg225=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1627349	NM_001145860.2(POP1):c.681A>C (p.Thr227=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974258	NM_001145860.2(POP1):c.699C>G (p.Ala233=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133816	NM_001145860.2(POP1):c.701G>C (p.Cys234Ser)	POP1 (C234S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719888	NM_001145860.2(POP1):c.706C>T (p.Arg236Ter)	POP1 (R236*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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