757[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 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 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 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 60363	GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1	ASPH, BPNT2 +108 more	Copy number loss	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	ADHFE1, ARMC1 +150 more	Copy number gain	See cases	GPathogenic
Select item 144167	GRCh38/hg38 8q12.2-13.1(chr8:60816393-65117062)x1	ASPH, BHLHE22 +79 more	Copy number loss	See cases	GPathogenic
Select item 152281	GRCh38/hg38 8q12.3(chr8:61424146-62002003)x3	ASPH, CLVS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 2552594	NM_004318.4(ASPH):c.2258G>T (p.Arg753Leu)	ASPH (R620L +42 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358987	NM_004318.4(ASPH):c.2258G>A (p.Arg753His)	ASPH (R591H +42 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2887027	NM_004318.4(ASPH):c.2226G>A (p.Val742=)	ASPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 137615	NM_004318.4(ASPH):c.2203C>T (p.Arg735Trp)	ASPH (R735W +1 more)	Single nucleotide variant (missense variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	GPathogenic
Select item 1184947	NM_004318.4(ASPH):c.2181_2183dup (p.Trp728Ter)	ASPH (W699* +1 more)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 2168369	NM_004318.4(ASPH):c.2179G>A (p.Val727Ile)	ASPH (V565I +42 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735386	NM_004318.4(ASPH):c.2175C>T (p.His725=)	ASPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3130439	NM_004318.4(ASPH):c.2146G>A (p.Val716Met)	ASPH (G652D +46 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2979951	NM_004318.4(ASPH):c.2130C>G (p.Thr710=)	ASPH (L647V +3 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2013756	NM_004318.4(ASPH):c.2127G>T (p.Lys709Asn)	ASPH (K547N +47 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184504	NM_004318.4(ASPH):c.2127-2del	ASPH	Deletion (splice acceptor variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	GPathogenic/Likely pathogenic
Select item 1192457	NM_004318.4(ASPH):c.2127-6C>T	ASPH	Single nucleotide variant (intron variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome +1 more	GBenign
Select item 2694332	NM_004318.4(ASPH):c.2127-11_2127-8dup	ASPH	Duplication (intron variant)	not provided	GLikely benign
Select item 1221056	NM_004318.4(ASPH):c.2127-105C>T	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2215874	NM_004318.4(ASPH):c.2105T>C (p.Ile702Thr)	ASPH (I498T +40 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621344	NM_004318.4(ASPH):c.2084T>A (p.Ile695Asn)	ASPH (I614N +40 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130438	NM_004318.4(ASPH):c.2071C>A (p.Leu691Met)	ASPH (L473M +40 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2044163	NM_004318.4(ASPH):c.2025C>T (p.His675=)	ASPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2271010	NM_004318.4(ASPH):c.2005A>G (p.Ile669Val)	ASPH (I600V +40 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 738239	NM_004318.4(ASPH):c.1972A>G (p.Thr658Ala)	ASPH (T629A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1426171	NM_004318.4(ASPH):c.1916dup (p.Asn639fs)	ASPH (N639fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1192458	NM_004318.4(ASPH):c.1900+6T>C	ASPH	Single nucleotide variant (intron variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome +1 more	GBenign
Select item 1915255	NM_004318.4(ASPH):c.1892G>A (p.Trp631Ter)	ASPH (W427* +40 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1965270	NM_004318.4(ASPH):c.1887G>T (p.Thr629=)	ASPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 137614	NM_004318.4(ASPH):c.1852_1856delinsGGG (p.Asn618fs)	ASPH (N589fs +1 more)	Indel (frameshift variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	GPathogenic
Select item 3130437	NM_004318.4(ASPH):c.1802G>A (p.Gly601Asp)	ASPH (G439D +40 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1299119	NM_004318.4(ASPH):c.1799A>T (p.Glu600Val)	ASPH (E571V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2391650	NM_004318.4(ASPH):c.1793G>A (p.Arg598Gln)	ASPH (R439Q +40 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1210220	NM_004318.4(ASPH):c.1782G>A (p.Trp594Ter)	ASPH (W565* +1 more)	Single nucleotide variant (nonsense)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	GPathogenic
Select item 1210559	NM_004318.4(ASPH):c.1771G>T (p.Glu591Ter)	ASPH (E562* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2818576	NM_004318.4(ASPH):c.1765-18C>T	ASPH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2236847	NM_004318.4(ASPH):c.1721C>T (p.Pro574Leu)	ASPH (P531L +40 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1184505	NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter)	ASPH (Y536* +1 more)	Single nucleotide variant (nonsense)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	GPathogenic/Likely pathogenic
Select item 3065095	NM_004318.4(ASPH):c.1680G>A (p.Trp560Ter)	ASPH (W342* +40 more)	Single nucleotide variant (nonsense)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	GLikely pathogenic
Select item 1988015	NM_004318.4(ASPH):c.1627-20del	ASPH	Deletion (intron variant)	not provided	GBenign
Select item 1265476	NM_004318.4(ASPH):c.1627-101G>A	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244828	NM_004318.4(ASPH):c.1627-119T>C	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298227	NM_004318.4(ASPH):c.1627-127C>T	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288832	NM_004318.4(ASPH):c.1627-251A>G	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298226	NM_004318.4(ASPH):c.1626+108G>A	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192459	NM_004318.4(ASPH):c.1626+10A>G	ASPH	Single nucleotide variant (intron variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome +1 more	GBenign
Select item 1691259	NM_004318.4(ASPH):c.1626G>A (p.Glu542=)	ASPH	Single nucleotide variant (synonymous variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	GLikely pathogenic
Select item 2230488	NM_004318.4(ASPH):c.1612G>A (p.Val538Ile)	ASPH (V457I +39 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2838034	NM_004318.4(ASPH):c.1596G>A (p.Gly532=)	ASPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2073181	NM_004318.4(ASPH):c.1590C>T (p.His530=)	ASPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1236010	NM_004318.4(ASPH):c.1537-116A>G	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269090	NM_004318.4(ASPH):c.1537-135C>A	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287514	NM_004318.4(ASPH):c.1536+285G>A	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2198759	NM_004318.4(ASPH):c.1517A>T (p.Glu506Val)	ASPH (E373V +39 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2227901	NM_004318.4(ASPH):c.1514C>A (p.Ala505Asp)	ASPH (A301D +39 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2762558	NM_004318.4(ASPH):c.1485C>T (p.Gly495=)	ASPH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2768808	NM_004318.4(ASPH):c.1482T>A (p.Tyr494Ter)	ASPH (Y332* +39 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 797752	NM_004318.4(ASPH):c.1476C>T (p.Val492=)	ASPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968188	NM_004318.4(ASPH):c.1438-14T>G	ASPH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246827	NM_004318.4(ASPH):c.1437+206A>T	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272049	NM_004318.4(ASPH):c.1437+143T>C	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192460	NM_004318.4(ASPH):c.1437+27G>A	ASPH	Single nucleotide variant (intron variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome +1 more	GBenign
Select item 715618	NM_004318.4(ASPH):c.1402G>A (p.Gly468Arg)	ASPH (G439R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2429371	NM_004318.4(ASPH):c.1394del (p.Leu465fs)	ASPH (L436fs +1 more)	Deletion (frameshift variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	GPathogenic
Select item 2549925	NM_004318.4(ASPH):c.1388G>A (p.Gly463Glu)	ASPH (G245E +39 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1449390	NM_004318.4(ASPH):c.1384G>A (p.Val462Met)	ASPH (V462M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 722114	NM_004318.4(ASPH):c.1347A>G (p.Leu449=)	ASPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613681	NM_004318.4(ASPH):c.1309A>G (p.Arg437Gly)	ASPH (R233G +39 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1935951	NM_004318.4(ASPH):c.1301-19dup	ASPH	Duplication (intron variant)	not provided	GBenign
Select item 1192461	NM_004318.4(ASPH):c.1301-79C>G	ASPH	Single nucleotide variant (intron variant)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome +1 more	GBenign
Select item 1294029	NM_004318.4(ASPH):c.1301-325dup	ASPH	Duplication (intron variant)	not provided	GBenign
Select item 2142349	NM_004318.4(ASPH):c.1298T>G (p.Leu433Arg)	ASPH (L229R +39 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2601167	NM_004318.4(ASPH):c.1277G>A (p.Arg426His)	ASPH (R222H +39 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 499844	NM_004318.4(ASPH):c.1273C>T (p.Arg425Cys)	ASPH (R425C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3037021	NM_004318.4(ASPH):c.1263G>A (p.Leu421=)	ASPH	Single nucleotide variant (synonymous variant +1 more)	ASPH-related disorder	GLikely benign
Select item 3318455	NM_004318.4(ASPH):c.1217A>G (p.Gln406Arg)	ASPH (Q319R +39 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3007500	NM_004318.4(ASPH):c.1173GAG[1] (p.Arg393del)	ASPH (R231del +39 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1272900	NM_004318.4(ASPH):c.1150-48A>T	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192480	NM_004318.4(ASPH):c.1150-57G>A	ASPH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1269336	NM_004318.4(ASPH):c.1150-193C>T	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221717	NM_004318.4(ASPH):c.1149+117A>T	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2860956	NM_004318.4(ASPH):c.1149+1G>A	ASPH	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1192481	NM_004318.4(ASPH):c.1146G>A (p.Ala382=)	ASPH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3130436	NM_004318.4(ASPH):c.1127G>A (p.Arg376Gln)	ASPH (R243Q +39 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1293678	NM_004318.4(ASPH):c.1063-121T>G	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175379	NM_004318.4(ASPH):c.1062+88G>A	ASPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298225	NM_004318.4(ASPH):c.1062+68dup	ASPH	Duplication (intron variant)	not provided	GBenign
Select item 1203723	NM_004318.4(ASPH):c.1062+68_1062+69dup	ASPH	Duplication (intron variant)	not provided	GLikely benign
Select item 1704179	NM_004318.4(ASPH):c.1062+81del	ASPH	Deletion (intron variant)	not provided	GLikely benign
Select item 2972325	NM_004318.4(ASPH):c.1062+8G>A	ASPH	Single nucleotide variant (intron variant)	not provided	GLikely benign

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