427[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +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 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 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 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 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	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 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	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 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 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 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	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 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	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 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 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 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 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 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	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 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 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 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 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 145968	GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3	ASAH1, ASAH1-AS1 +144 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59768	GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3	ASAH1, ASAH1-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 153644	GRCh38/hg38 8p22(chr8:17714835-18141353)x1	ASAH1, ASAH1-AS1 +17 more	Copy number loss	See cases	GUncertain significance
Select item 152700	GRCh38/hg38 8p22(chr8:17860010-18406994)x3	ASAH1, ASAH1-AS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 35545	NC_000008.11:g.(?_18051554)_(18107050_?)del	ASAH1, ASAH1-AS1 +2 more	Deletion	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	GPathogenic
Select item 362349	NM_177924.5(ASAH1):c.*1103C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 362350	NM_177924.5(ASAH1):c.*1073C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 911205	NM_177924.5(ASAH1):c.*996C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362351	NM_177924.5(ASAH1):c.*961A>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362352	NM_177924.5(ASAH1):c.*933T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362353	NM_177924.5(ASAH1):c.*932C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 911398	NM_177924.5(ASAH1):c.*926A>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GBenign
Select item 362354	NM_177924.5(ASAH1):c.*926A>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 911399	NM_177924.5(ASAH1):c.*885T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 911400	NM_177924.5(ASAH1):c.*794A>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362355	NM_177924.5(ASAH1):c.*738C>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 362356	NM_177924.5(ASAH1):c.*729T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 362357	NM_177924.5(ASAH1):c.708_711del	ASAH1	Deletion (3 prime UTR variant)	Farber lipogranulomatosis	GBenign
Select item 362358	NM_177924.5(ASAH1):c.*695C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 362359	NM_177924.5(ASAH1):c.*687C>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 362360	NM_177924.5(ASAH1):c.*686T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 2658455	NM_177924.5(ASAH1):c.*618C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 908422	NM_177924.5(ASAH1):c.*617T>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362361	NM_177924.5(ASAH1):c.*501T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 908423	NM_177924.5(ASAH1):c.*459T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 908424	NM_177924.5(ASAH1):c.*373C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362362	NM_177924.5(ASAH1):c.*368C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GLikely benign
Select item 362363	NM_177924.5(ASAH1):c.*356C>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GLikely benign
Select item 909272	NM_177924.5(ASAH1):c.*353C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362364	NM_177924.5(ASAH1):c.*334G>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 909273	NM_177924.5(ASAH1):c.*292C>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362365	NM_177924.5(ASAH1):c.*244C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign
Select item 909274	NM_177924.5(ASAH1):c.*222T>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362366	NM_177924.5(ASAH1):c.*200C>T	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GBenign/Likely benign
Select item 362367	NM_177924.5(ASAH1):c.*184T>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 362368	NM_177924.5(ASAH1):c.*178A>G	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 1252163	NM_177924.5(ASAH1):c.*177del	ASAH1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 362369	NM_177924.5(ASAH1):c.176_177del	ASAH1	Deletion (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GUncertain significance
Select item 1267034	NM_177924.5(ASAH1):c.*171del	ASAH1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 911267	NM_177924.5(ASAH1):c.*171T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +1 more	GUncertain significance
Select item 362370	NM_177924.5(ASAH1):c.*164T>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362371	NM_177924.5(ASAH1):c.*160T>C	ASAH1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 911268	NM_177924.5(ASAH1):c.*136G>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 362372	NM_177924.5(ASAH1):c.*124T>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis +2 more	GBenign
Select item 911269	NM_177924.5(ASAH1):c.*103G>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +1 more	GUncertain significance
Select item 911464	NM_177924.5(ASAH1):c.*25G>A	ASAH1	Single nucleotide variant (3 prime UTR variant)	Farber lipogranulomatosis	GUncertain significance
Select item 812505	NM_177924.5(ASAH1):c.1186dup (p.Ter396LeuextTer?)	ASAH1	Duplication (frameshift variant +1 more)	Farber lipogranulomatosis	GUncertain significance
Select item 2860985	NM_177924.5(ASAH1):c.1182T>G (p.Gly394=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929407	NM_177924.5(ASAH1):c.1178T>G (p.Ile393Arg)	ASAH1 (I387R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812491	NM_177924.5(ASAH1):c.1175G>A (p.Cys392Tyr)	ASAH1 (C408Y +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis	GLikely pathogenic
Select item 1431525	NM_177924.5(ASAH1):c.1169A>G (p.Asp390Gly)	ASAH1 (D325G +3 more)	Single nucleotide variant (missense variant)	Farber lipogranulomatosis +2 more	GUncertain significance
Select item 2418507	NM_177924.5(ASAH1):c.1166C>G (p.Pro389Arg)	ASAH1 (P324R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031459	NM_177924.5(ASAH1):c.1159G>A (p.Asp387Asn)	ASAH1 (D387N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709286	NM_177924.5(ASAH1):c.1157G>A (p.Arg386Gln)	ASAH1 (R321Q +3 more)	Single nucleotide variant (missense variant)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	GLikely pathogenic
Select item 691801	NM_177924.5(ASAH1):c.1156C>T (p.Arg386Trp)	ASAH1 (R380W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 417797	NM_177924.5(ASAH1):c.1154T>C (p.Leu385Pro)	ASAH1 (L401P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911465	NM_177924.5(ASAH1):c.1153C>T (p.Leu385=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1588660	NM_177924.5(ASAH1):c.1149T>C (p.Thr383=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 911466	NM_177924.5(ASAH1):c.1144G>A (p.Glu382Lys)	ASAH1 (E376K +3 more)	Single nucleotide variant (missense variant)	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome +2 more	GUncertain significance
Select item 746067	NM_177924.5(ASAH1):c.1143C>T (p.Phe381=)	ASAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1403494	NM_177924.5(ASAH1):c.1142T>C (p.Phe381Ser)	ASAH1 (F316S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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