9583[HGNC] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	BSG, BSG-AS1 +74 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 60231	GRCh38/hg38 19p13.3(chr19:677680-899104)x3	AZU1, CFD +25 more	Copy number gain	See cases	GUncertain significance
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 1210056	NM_002819.5(PTBP1):c.1A>G (p.Met1Val)	PTBP1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 828191	NM_002819.5(PTBP1):c.2T>C (p.Met1Thr)	PTBP1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1301493	NM_002819.5(PTBP1):c.8+12G>C	PTBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2333037	NM_002819.5(PTBP1):c.82C>T (p.Pro28Ser)	PTBP1 (P28S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487346	NM_002819.5(PTBP1):c.88A>G (p.Ile30Val)	PTBP1 (I30V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311082	NM_002819.5(PTBP1):c.90C>G (p.Ile30Met)	PTBP1 (I32M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311081	NM_002819.5(PTBP1):c.104C>T (p.Ser35Leu)	PTBP1 (S35L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220571	NM_002819.5(PTBP1):c.175A>G (p.Arg59Gly)	PTBP1 (R59G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788832	NM_002819.5(PTBP1):c.264C>T (p.Leu88=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 739143	NM_002819.5(PTBP1):c.363G>A (p.Leu121=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726561	NM_002819.5(PTBP1):c.435+4C>T	PTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2290750	NM_002819.5(PTBP1):c.446C>T (p.Ala149Val)	PTBP1 (A151V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320969	NM_002819.5(PTBP1):c.464A>G (p.Asn155Ser)	PTBP1 (N155S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311080	NM_002819.5(PTBP1):c.505G>C (p.Ala169Pro)	PTBP1 (A169P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516177	NM_002819.5(PTBP1):c.506C>T (p.Ala169Val)	PTBP1 (A169V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738296	NM_002819.5(PTBP1):c.510C>T (p.Ala170=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2524244	NM_002819.5(PTBP1):c.512T>C (p.Val171Ala)	PTBP1 (V173A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721042	NM_002819.5(PTBP1):c.517G>A (p.Ala173Thr)	PTBP1 (A173T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2294289	NM_002819.5(PTBP1):c.525G>A (p.Met175Ile)	PTBP1 (M175I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756719	NM_002819.5(PTBP1):c.564G>A (p.Val188=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2268644	NM_002819.5(PTBP1):c.694G>C (p.Val232Leu)	PTBP1 (V232L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773075	NM_002819.5(PTBP1):c.699C>T (p.Ser233=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738164	NM_002819.5(PTBP1):c.718-7C>T	PTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 760369	NM_002819.5(PTBP1):c.756G>T (p.Thr252=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618069	NM_002819.5(PTBP1):c.761G>T (p.Arg254Leu)	PTBP1 (R256L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335175	NM_002819.5(PTBP1):c.785G>C (p.Ser262Thr)	PTBP1 (S262T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261131	NM_002819.5(PTBP1):c.835G>A (p.Asp279Asn)	PTBP1 (D279N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491730	NM_002819.5(PTBP1):c.845C>T (p.Ser282Phe)	PTBP1 (S282F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220572	NM_002819.5(PTBP1):c.909C>T (p.Ile303=)	PTBP1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2272078	NM_002819.5(PTBP1):c.994G>A (p.Gly332Ser)	PTBP1 (G325S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388168	NM_002819.5(PTBP1):c.997G>A (p.Ala333Thr)	PTBP1 (A307T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730964	NM_002819.5(PTBP1):c.1032G>A (p.Ala344=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2326652	NM_002819.5(PTBP1):c.1054A>G (p.Ile352Val)	PTBP1 (I326V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791434	NM_002819.5(PTBP1):c.1119+3A>G	PTBP1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 730965	NM_002819.5(PTBP1):c.1167C>T (p.Asp389=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2648867	NM_002819.5(PTBP1):c.1209C>T (p.Ala403=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783809	NM_002819.5(PTBP1):c.1332C>T (p.Arg444=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721873	NM_002819.5(PTBP1):c.1368C>T (p.Tyr456=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2517982	NM_002819.5(PTBP1):c.1373A>G (p.Asn458Ser)	PTBP1 (N451S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717571	NM_002819.5(PTBP1):c.1374C>T (p.Asn458=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781359	NM_002819.5(PTBP1):c.1380C>T (p.Pro460=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3220570	NM_002819.5(PTBP1):c.1402G>A (p.Gly468Ser)	PTBP1 (G461S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771774	NM_002819.5(PTBP1):c.1463+20_1463+36del	PTBP1	Deletion (intron variant)	not provided	GBenign
Select item 731645	NM_002819.5(PTBP1):c.1519G>A (p.Val507Ile)	PTBP1 (V500I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3311083	NM_002819.5(PTBP1):c.1586A>C (p.Glu529Ala)	PTBP1 (E503A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741931	NM_002819.5(PTBP1):c.1602C>T (p.Leu534=)	PTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ATP5F1D, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	ABCA7, ARHGAP45 +35 more	Duplication	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 564597	GRCh37/hg19 19p13.3(chr19:715724-1438636)x3	ABCA7, ARHGAP45 +31 more	Copy number gain	not provided	GUncertain significance
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 444854	GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442971	GRCh37/hg19 19p13.3(chr19:415092-715725)x3	ABCA7, ARHGAP45 +29 more	Copy number gain	See cases	GLikely benign
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 252977	GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	ABCA7, ARHGAP45 +36 more	Copy number gain	See cases	GPathogenic

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Items: 79