8995[HGNC] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001533, LOC130001534 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	STOML2, TAF1L +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 2499645	GRCh38/hg38 9q21.11(chr9:68417620-68744894)	LINC01506, LOC130001851 +10 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 148455	GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1	APBA1, BANCR +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 59106	GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1	APBA1, BANCR +40 more	Copy number loss	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC126860657, LOC128854705 +263 more	Copy number loss	See cases	GPathogenic
Select item 155686	GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3	ABHD17B, APBA1 +79 more	Copy number gain	See cases	GLikely pathogenic
Select item 770386	NM_138333.5(PABIR1):c.-68C>G	PABIR1, PIP5K1B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2527556	NM_138333.5(PABIR1):c.32A>G (p.Glu11Gly)	PABIR1, PIP5K1B (E11G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600169	NM_138333.5(PABIR1):c.196C>T (p.Pro66Ser)	PABIR1, PIP5K1B (P66S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518418	NM_138333.5(PABIR1):c.398C>G (p.Ser133Cys)	PABIR1, PIP5K1B (S133C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482610	NM_138333.5(PABIR1):c.706G>T (p.Gly236Cys)	PABIR1, PIP5K1B (G236C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 155100	GRCh38/hg38 9q21.11-21.12(chr9:68802194-69342807)x3	BANCR, ENTREP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2299338	NM_003558.4(PIP5K1B):c.202G>A (p.Glu68Lys)	PIP5K1B (E68K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388978	NM_003558.4(PIP5K1B):c.334G>C (p.Glu112Gln)	PIP5K1B (E112Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221883	NM_003558.4(PIP5K1B):c.415A>G (p.Thr139Ala)	PIP5K1B (T139A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067185	NM_003558.4(PIP5K1B):c.855G>A (p.Glu285=)	PIP5K1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2480165	NM_003558.4(PIP5K1B):c.892G>T (p.Gly298Trp)	PIP5K1B (G298W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332656	NM_003558.4(PIP5K1B):c.1025T>A (p.Leu342Gln)	PIP5K1B (L342Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303214	NM_003558.4(PIP5K1B):c.1157G>C (p.Arg386Thr)	PIP5K1B (R386T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467260	NM_003558.4(PIP5K1B):c.1228C>T (p.Arg410Trp)	PIP5K1B (R410W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226816	NM_003558.4(PIP5K1B):c.1255G>A (p.Ala419Thr)	PIP5K1B (A419T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368228	NM_003558.4(PIP5K1B):c.1309C>T (p.Arg437Trp)	PIP5K1B (R437W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408986	NM_003558.4(PIP5K1B):c.1370G>A (p.Arg457Gln)	PIP5K1B (R457Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290655	NM_003558.4(PIP5K1B):c.1406T>A (p.Leu469Gln)	PIP5K1B (L469Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388049	NM_003558.4(PIP5K1B):c.1526C>A (p.Thr509Lys)	PIP5K1B (T509K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368046	NM_003558.4(PIP5K1B):c.1598C>G (p.Ala533Gly)	PIP5K1B (A533G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536764	NM_003558.4(PIP5K1B):c.1609G>C (p.Asp537His)	PIP5K1B (D537H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410212	NM_003558.4(PIP5K1B):c.1612G>A (p.Val538Ile)	PIP5K1B (V538I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536765	NM_003558.4(PIP5K1B):c.1619T>C (p.Leu540Ser)	PIP5K1B (L540S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 151942	GRCh38/hg38 9q21.11(chr9:68991449-69164502)x3	FXN, LOC108510657 +11 more	Copy number gain	See cases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1809319	GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3	ABHD17B, ALDH1A1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1808288	GRCh37/hg19 9q21.11(chr9:71496157-71893866)x1	FXN, PIP5K1B +2 more	Copy number loss	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 688053	GRCh37/hg19 9q21.11(chr9:71415902-71996013)x3	BANCR, ENTREP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 687043	GRCh37/hg19 9q21.11(chr9:71221738-71660766)x3	FXN, PABIR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686833	GRCh37/hg19 9q21.11(chr9:71415902-71971195)x3	BANCR, ENTREP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686082	GRCh37/hg19 9q21.11(chr9:71533382-71987060)x3	BANCR, ENTREP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685659	GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1	ABHD17B, ALDH1A1 +42 more	Copy number loss	not provided	GPathogenic
Select item 685355	GRCh37/hg19 9q21.11(chr9:71458419-71776105)x3	FXN, PIP5K1B +2 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	ABHD17B, ACO1 +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic
Select item 560069	Single allele	PRKACG, TJP2 +2 more	Duplication	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 443930	GRCh37/hg19 9q21.11(chr9:71515614-71991318)x3	BANCR, FAM189A2 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443719	GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1	ABHD17B, ALDH1A1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 442687	GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3	ABHD17B, ALDH1A1 +50 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 442350	GRCh37/hg19 9q21.11(chr9:71395537-71967664)x3	BANCR, FAM189A2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253780	GRCh37/hg19 9q21.11(chr9:71395668-71944494)x3	TJP2, PABIR1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 76