ASB14[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 2717386	NM_012096.3(APPL1):c.1898G>A (p.Arg633His)	APPL1, ASB14 (R633H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2653911	NM_012096.3(APPL1):c.1898G>T (p.Arg633Leu)	APPL1, ASB14 (R633L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2961791	NM_012096.3(APPL1):c.1916A>G (p.Gln639Arg)	APPL1, ASB14 (Q639R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1678586	NM_012096.3(APPL1):c.1926A>G (p.Ile642Met)	APPL1, ASB14 (I642M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1315697	NM_012096.3(APPL1):c.1930_1933del (p.Glu643_Arg644insTer)	APPL1, ASB14	Microsatellite (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2306817	NM_012096.3(APPL1):c.1933G>C (p.Val645Leu)	APPL1, ASB14 (V645L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1318138	NM_012096.3(APPL1):c.1961A>G (p.Asn654Ser)	APPL1, ASB14 (N654S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3339120	NM_012096.3(APPL1):c.1983+4T>C	APPL1, ASB14	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3034768	NM_012096.3(APPL1):c.1983+5A>G	APPL1, ASB14	Single nucleotide variant (3 prime UTR variant +1 more)	APPL1-related disorder	GLikely benign
Select item 1551890	NM_012096.3(APPL1):c.1983+7A>G	APPL1, ASB14	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1235569	NM_012096.3(APPL1):c.1984-88_1984-87insTTGAA	APPL1, ASB14	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2428543	NM_001142733.3(ASB14):c.*120dup	APPL1, ASB14	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1336471	NM_012096.3(APPL1):c.2018C>G (p.Ser673Cys)	APPL1, ASB14 +1 more (S673C)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2089130	NM_012096.3(APPL1):c.2046G>A (p.Glu682=)	APPL1, ASB14 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1466213	NM_012096.3(APPL1):c.2072G>A (p.Ser691Asn)	APPL1, ASB14 +1 more (S691N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +1 more	GUncertain significance
Select item 1168989	NM_012096.3(APPL1):c.2099A>G (p.Glu700Gly)	APPL1, ASB14 +1 more (E700G)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 1923374	NM_012096.3(APPL1):c.2111A>G (p.Lys704Arg)	APPL1, ASB14 +1 more (K704R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1422648	NM_012096.3(APPL1):c.2127A>G (p.Ala709=)	APPL1, ASB14 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2462089	NM_001142733.3(ASB14):c.1742G>A (p.Gly581Glu)	ASB14, LOC105377102 (G296E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473060	NM_001142733.3(ASB14):c.1726G>A (p.Asp576Asn)	ASB14, LOC105377102 (D576N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388792	NM_001142733.3(ASB14):c.1693C>A (p.Arg565Ser)	ASB14, LOC105377102 (R280S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382701	NM_001142733.3(ASB14):c.1693C>T (p.Arg565Cys)	ASB14, LOC105377102 (R280C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399235	NM_001142733.3(ASB14):c.1655G>A (p.Arg552His)	ASB14, LOC105377102 (R552H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514614	NM_001142733.3(ASB14):c.1654C>T (p.Arg552Cys)	ASB14, LOC105377102 (R552C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525371	NM_001142733.3(ASB14):c.1635C>G (p.Cys545Trp)	ASB14, LOC105377102 (C260W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317237	NM_001142733.3(ASB14):c.1595G>C (p.Arg532Pro)	ASB14, LOC105377102 (R532P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130110	NM_001142733.3(ASB14):c.1590C>A (p.Asn530Lys)	ASB14, LOC105377102 (N530K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248868	NM_001142733.3(ASB14):c.1573C>A (p.His525Asn)	ASB14, LOC105377102 (H525N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531687	NM_001142733.3(ASB14):c.1517G>A (p.Arg506Gln)	ASB14, LOC105377102 (R506Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3130109	NM_001142733.3(ASB14):c.1505T>G (p.Val502Gly)	ASB14, LOC105377102 (V217G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2213407	NM_001142733.3(ASB14):c.1487G>A (p.Arg496Gln)	ASB14, LOC105377102 (R496Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2203919	NM_001142733.3(ASB14):c.1481T>C (p.Val494Ala)	ASB14, LOC105377102 (V209A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2268674	NM_001142733.3(ASB14):c.1451T>C (p.Leu484Ser)	ASB14, LOC105377102 (L484S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2382811	NM_001142733.3(ASB14):c.1429A>C (p.Lys477Gln)	ASB14 (K192Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312207	NM_001142733.3(ASB14):c.1406C>T (p.Thr469Ile)	ASB14 (T469I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130108	NM_001142733.3(ASB14):c.1390A>T (p.Thr464Ser)	ASB14 (T179S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130107	NM_001142733.3(ASB14):c.1333T>G (p.Tyr445Asp)	ASB14 (Y160D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230925	NM_001142733.3(ASB14):c.1175T>C (p.Ile392Thr)	ASB14 (I107T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411635	NM_001142733.3(ASB14):c.1136G>C (p.Gly379Ala)	ASB14 (G379A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610377	NM_001142733.3(ASB14):c.1087G>C (p.Ala363Pro)	ASB14 (A78P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513260	NM_001142733.3(ASB14):c.1018G>A (p.Val340Met)	ASB14 (V340M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478565	NM_001142733.3(ASB14):c.1010G>C (p.Gly337Ala)	ASB14 (G52A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330990	NM_001142733.3(ASB14):c.914C>T (p.Thr305Met)	ASB14 (T305M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130120	NM_001142733.3(ASB14):c.890C>G (p.Ala297Gly)	ASB14 (A12G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327532	NM_001142733.3(ASB14):c.863T>C (p.Val288Ala)	ASB14 (V288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610378	NM_001142733.3(ASB14):c.849C>G (p.His283Gln)	ASB14 (H283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481272	NM_001142733.3(ASB14):c.784C>G (p.Pro262Ala)	ASB14 (P262A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618234	NM_001142733.3(ASB14):c.769G>A (p.Ala257Thr)	ASB14 (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315246	NM_001142733.3(ASB14):c.743A>G (p.Asp248Gly)	ASB14 (D248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476690	NM_001142733.3(ASB14):c.710G>A (p.Arg237Gln)	ASB14 (R237Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360701	NM_001142733.3(ASB14):c.709C>T (p.Arg237Trp)	ASB14 (R237W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130119	NM_001142733.3(ASB14):c.661G>A (p.Ala221Thr)	ASB14 (A221T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130118	NM_001142733.3(ASB14):c.641C>T (p.Thr214Met)	ASB14 (T214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323238	NM_001142733.3(ASB14):c.634C>A (p.Gln212Lys)	ASB14 (Q212K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130116	NM_001142733.3(ASB14):c.578T>G (p.Leu193Arg)	ASB14 (L193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317248	NM_001142733.3(ASB14):c.479G>A (p.Arg160His)	ASB14 (R160H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556780	NM_001142733.3(ASB14):c.479G>T (p.Arg160Leu)	ASB14 (R160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525225	NM_001142733.3(ASB14):c.478C>T (p.Arg160Cys)	ASB14 (R160C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376735	NM_001142733.3(ASB14):c.416A>G (p.Asn139Ser)	ASB14 (N139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130114	NM_001142733.3(ASB14):c.311C>T (p.Ala104Val)	ASB14 (A104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533140	NM_001142733.3(ASB14):c.250A>C (p.Ile84Leu)	ASB14 (I84L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3317259	NM_001142733.3(ASB14):c.244G>A (p.Gly82Ser)	ASB14 (G82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130113	NM_001142733.3(ASB14):c.178G>A (p.Gly60Ser)	ASB14 (G60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130112	NM_001142733.3(ASB14):c.173A>G (p.Glu58Gly)	ASB14 (E58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130111	NM_001142733.3(ASB14):c.170T>C (p.Ile57Thr)	ASB14 (I57T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468150	NM_001142733.3(ASB14):c.158T>C (p.Ile53Thr)	ASB14 (I53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130115	NM_001142733.3(ASB14):c.47C>T (p.Thr16Ile)	ASB14 (T16I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062735	GRCh37/hg19 3p14.3(chr3:57186580-57384870)x1	APPL1, ASB14 +3 more	Copy number loss	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2685080	GRCh37/hg19 3p14.3(chr3:56258725-57386154)x1	APPL1, ARHGEF3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2424783	NC_000003.11:g.(?_57130421)_(57303715_?)dup	APPL1, ASB14 +2 more	Duplication	GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES +1 more	GUncertain significance
Select item 2423438	NC_000003.11:g.(?_57130421)_(58520833_?)del	ABHD6, ACOX2 +15 more	Deletion	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 78