PABIR1[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +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	LOC113839555, LOC113839556 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 148455	GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1	LOC130001865, LOC130001866 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +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	LOC130001938, LOC130001939 +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)	not specified	GUncertain significance
Select item 3207796	NM_138333.5(PABIR1):c.47C>T (p.Thr16Met)	PABIR1, PIP5K1B (T16M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207792	NM_138333.5(PABIR1):c.185G>A (p.Ser62Asn)	PABIR1, PIP5K1B (S62N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600169	NM_138333.5(PABIR1):c.196C>T (p.Pro66Ser)	PABIR1, PIP5K1B (P66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207793	NM_138333.5(PABIR1):c.371G>C (p.Ser124Thr)	PABIR1, PIP5K1B (S124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207794	NM_138333.5(PABIR1):c.377A>G (p.Asn126Ser)	PABIR1, PIP5K1B (N126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207795	NM_138333.5(PABIR1):c.397T>A (p.Ser133Thr)	PABIR1, PIP5K1B (S133T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518418	NM_138333.5(PABIR1):c.398C>G (p.Ser133Cys)	PABIR1, PIP5K1B (S133C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303847	NM_138333.5(PABIR1):c.591T>G (p.Ser197Arg)	PABIR1, PIP5K1B (S197R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482610	NM_138333.5(PABIR1):c.706G>T (p.Gly236Cys)	PABIR1, PIP5K1B (G236C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207797	NM_138333.5(PABIR1):c.718T>C (p.Ser240Pro)	PABIR1, PIP5K1B (S240P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207798	NM_138333.5(PABIR1):c.745A>C (p.Ser249Arg)	PABIR1, PIP5K1B (S249R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +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 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +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)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687043	GRCh37/hg19 9q21.11(chr9:71221738-71660766)x3	FXN, PABIR1 +2 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 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +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 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
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, ENTREP1 +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)	ABCA1, ABCA2 +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	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 56