8740[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 149227	GRCh38/hg38 16q24.3(chr16:89481626-89665765)x3	ANKRD11, CHMP1A +27 more	Copy number gain	See cases	GUncertain significance
Select item 58270	GRCh38/hg38 16q24.3(chr16:89570545-89814613)x1	CDK10, CHMP1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 151644	GRCh38/hg38 16q24.3(chr16:89586679-89648483)x3	CHMP1A, CPNE7 +2 more	Copy number gain	See cases	GLikely benign
Select item 148353	GRCh38/hg38 16q24.3(chr16:89608619-89821113)x1	CDK10, CHMP1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 153450	GRCh38/hg38 16q24.3(chr16:89610227-89829851)x1	CDK10, CHMP1A +38 more	Copy number loss	See cases	GUncertain significance
Select item 1193078	NM_002768.5(CHMP1A):c.*436T>G	CHMP1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1207156	NM_002768.5(CHMP1A):c.*392C>G	CHMP1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1223455	NM_002768.5(CHMP1A):c.*336A>C	CHMP1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3037431	NM_002768.5(CHMP1A):c.*121G>C	CHMP1A (R231P)	Single nucleotide variant (missense variant +2 more)	CHMP1A-related disorder	GLikely benign
Select item 2270472	NM_002768.5(CHMP1A):c.*109C>T	CHMP1A (A227V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 380949	NM_002768.5(CHMP1A):c.*100T>G	CHMP1A (L224R)	Single nucleotide variant (missense variant +2 more)	not specified	GBenign
Select item 383224	NM_002768.5(CHMP1A):c.*95G>A	CHMP1A	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 380948	NM_002768.5(CHMP1A):c.*94C>T	CHMP1A (A222V)	Single nucleotide variant (missense variant +2 more)	not specified	GBenign
Select item 1032086	NM_002768.5(CHMP1A):c.*93G>A	CHMP1A (A222T)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 8	GUncertain significance
Select item 2647118	NM_002768.5(CHMP1A):c.*68C>G	CHMP1A	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2548406	NM_002768.5(CHMP1A):c.*57C>T	CHMP1A (P210S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3144431	NM_002768.5(CHMP1A):c.*34G>T	CHMP1A (R202L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2408498	NM_002768.5(CHMP1A):c.*10G>A	CHMP1A (R194H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230561	NM_002768.5(CHMP1A):c.*9C>T	CHMP1A (R194C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 389909	NM_002768.5(CHMP1A):c.*7C>T	CHMP1A (P193L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3267062	NM_002768.5(CHMP1A):c.*6C>A	CHMP1A (P193T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2248794	NM_002768.5(CHMP1A):c.587A>G (p.Asn196Ser)	CHMP1A (N196S)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2485651	NM_002768.5(CHMP1A):c.577G>C (p.Ala193Pro)	CHMP1A (R186P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1331476	NM_002768.5(CHMP1A):c.570-1G>C	CHMP1A	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2098907	NM_002768.5(CHMP1A):c.570-17C>G	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384619	NM_002768.5(CHMP1A):c.570-20G>C	CHMP1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1207637	NM_002768.5(CHMP1A):c.570-128T>G	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189878	NM_002768.5(CHMP1A):c.569+202G>A	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205341	NM_002768.5(CHMP1A):c.569+154G>A	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286666	NM_002768.5(CHMP1A):c.569+46G>A	CHMP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1916569	NM_002768.5(CHMP1A):c.569+20C>T	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3144429	NM_002768.5(CHMP1A):c.558G>A (p.Gln186=)	CHMP1A (A180T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 596788	NM_002768.5(CHMP1A):c.558G>C (p.Gln186His)	CHMP1A (Q186H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314783	NM_002768.5(CHMP1A):c.552G>C (p.Glu184Asp)	CHMP1A (E184D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171914	NM_002768.5(CHMP1A):c.542G>A (p.Arg181His)	CHMP1A (R181H)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 3008395	NM_002768.5(CHMP1A):c.528C>T (p.Gly176=)	CHMP1A (R170*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 2170816	NM_002768.5(CHMP1A):c.522C>T (p.Ala174=)	CHMP1A (R168C)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1940731	NM_002768.5(CHMP1A):c.516C>T (p.Ala172=)	CHMP1A (L166F)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1933073	NM_002768.5(CHMP1A):c.514G>A (p.Ala172Thr)	CHMP1A (A172T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2134869	NM_002768.5(CHMP1A):c.513C>T (p.Gly171=)	CHMP1A (R165C)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 384618	NM_002768.5(CHMP1A):c.507C>T (p.Pro169=)	CHMP1A (R163*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1378656	NM_002768.5(CHMP1A):c.497G>T (p.Ser166Ile)	CHMP1A (S166I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2045414	NM_002768.5(CHMP1A):c.489C>A (p.Asp163Glu)	CHMP1A (P157T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1936902	NM_002768.5(CHMP1A):c.488A>G (p.Asp163Gly)	CHMP1A (D163G)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2049099	NM_002768.5(CHMP1A):c.462C>T (p.Ala154=)	CHMP1A (R148*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 1902110	NM_002768.5(CHMP1A):c.459C>T (p.Ile153=)	CHMP1A (R147C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2535102	NM_002768.5(CHMP1A):c.432G>A (p.Glu144=)	CHMP1A (A138T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2955992	NM_002768.5(CHMP1A):c.426G>A (p.Pro142=)	CHMP1A (A136T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2161650	NM_002768.5(CHMP1A):c.423G>A (p.Thr141=)	CHMP1A (A135T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 390042	NM_002768.5(CHMP1A):c.408C>T (p.Ala136=)	CHMP1A (H130Y)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2515254	NM_002768.5(CHMP1A):c.405G>A (p.Ser135=)	CHMP1A (G129S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2200740	NM_002768.5(CHMP1A):c.404C>T (p.Ser135Leu)	CHMP1A (S135L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1629762	NM_002768.5(CHMP1A):c.384G>A (p.Val128=)	CHMP1A (D122N)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2886725	NM_002768.5(CHMP1A):c.382-6C>T	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 759976	NM_002768.5(CHMP1A):c.382-7C>T	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128731	NM_002768.5(CHMP1A):c.382-8G>T	CHMP1A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1545276	NM_002768.5(CHMP1A):c.382-9T>C	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680112	NM_002768.5(CHMP1A):c.382-52G>A	CHMP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191240	NM_002768.5(CHMP1A):c.382-103dup	CHMP1A	Duplication (intron variant)	not provided	GLikely benign
Select item 1213215	NM_002768.5(CHMP1A):c.382-175G>T	CHMP1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250316	NM_002768.5(CHMP1A):c.381+217G>T	CHMP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250471	NM_002768.5(CHMP1A):c.381+188G>A	CHMP1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239936	NM_002768.5(CHMP1A):c.381+48G>C	CHMP1A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1194213	NM_002768.5(CHMP1A):c.381+36G>C	CHMP1A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2779956	NM_002768.5(CHMP1A):c.381+17C>T	CHMP1A	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3336500	NM_002768.5(CHMP1A):c.381+6T>A	CHMP1A	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2594876	NM_002768.5(CHMP1A):c.380C>T (p.Ser127Leu)	CHMP1A (S127L)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 1198141	NM_002768.5(CHMP1A):c.380C>G (p.Ser127Trp)	CHMP1A (I120M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2319516	NM_002768.5(CHMP1A):c.378A>G (p.Thr126=)	CHMP1A (I120V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 1940824	NM_002768.5(CHMP1A):c.370G>A (p.Val124Ile)	CHMP1A (R117H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3144427	NM_002768.5(CHMP1A):c.366G>A (p.Leu122=)	CHMP1A (G116R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 522948	NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)	CHMP1A (E116K +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 1A +1 more	GConflicting classifications of pathogenicity
Select item 420646	NM_002768.5(CHMP1A):c.346G>C (p.Glu116Gln)	CHMP1A (E116Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2963914	NM_002768.5(CHMP1A):c.345C>T (p.Phe115=)	CHMP1A (R109*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 2912469	NM_002768.5(CHMP1A):c.333G>A (p.Val111=)	CHMP1A (D105N)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2282797	NM_002768.5(CHMP1A):c.327C>G (p.Ser109=)	CHMP1A (L103V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2403320	NM_002768.5(CHMP1A):c.321G>A (p.Lys107=)	CHMP1A (G101S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2337489	NM_002768.5(CHMP1A):c.310G>A (p.Asp104Asn)	CHMP1A (D104N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144426	NM_002768.5(CHMP1A):c.304A>G (p.Thr102Ala)	CHMP1A (T102A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2806601	NM_002768.5(CHMP1A):c.303C>T (p.Ser101=)	CHMP1A (H95Y)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2168807	NM_002768.5(CHMP1A):c.297C>T (p.Ala99=)	CHMP1A (P93S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign

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