PAG1[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000602, LOC130000603 +470 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000617, LOC130000618 +191 more	Copy number loss	See cases	GPathogenic
Select item 144237	GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1	CASC9, CRISPLD1 +115 more	Copy number loss	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 2328673	NM_018440.4(PAG1):c.1283A>G (p.Asp428Gly)	PAG1 (D428G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717223	NM_018440.4(PAG1):c.1210A>T (p.Thr404Ser)	PAG1 (T404S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2529314	NM_018440.4(PAG1):c.1165G>A (p.Ala389Thr)	PAG1 (A389T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600347	NM_018440.4(PAG1):c.998C>T (p.Ser333Leu)	PAG1 (S333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222281	NM_018440.4(PAG1):c.710G>A (p.Arg237His)	PAG1 (R237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372287	NM_018440.4(PAG1):c.709C>T (p.Arg237Cys)	PAG1 (R237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372645	NM_018440.4(PAG1):c.620C>G (p.Thr207Ser)	PAG1 (T207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778360	NM_018440.4(PAG1):c.452T>C (p.Val151Ala)	PAG1 (V151A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2280511	NM_018440.4(PAG1):c.226G>T (p.Asp76Tyr)	PAG1 (D76Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350896	NM_018440.4(PAG1):c.202C>A (p.Arg68Ser)	PAG1 (R68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740708	NM_018440.4(PAG1):c.125+9C>T	PAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3208012	NM_018440.4(PAG1):c.67G>A (p.Ala23Thr)	PAG1 (A23T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551692	NM_018440.4(PAG1):c.28A>G (p.Ser10Gly)	PAG1 (S10G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1338848	GRCh38/hg38 8q21.13(chr8:81061071-81682394)	FABP12, FABP4 +23 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063023	GRCh37/hg19 8q21.13-21.2(chr8:81829690-85172228)x3	CHMP4C, FABP12 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1807951	GRCh37/hg19 8q21.12-21.13(chr8:79876744-83112711)x3	CHMP4C, FABP12 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1341980	GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1	CA1, CA13 +31 more	Copy number loss	Chromosome 8q21.11 deletion syndrome	GPathogenic
Select item 1340972	GRCh37/hg19 8q21.13(chr8:81835863-81892495)x1	PAG1	Copy number loss	not provided	GUncertain significance
Select item 1340788	GRCh37/hg19 8q21.13-21.2(chr8:81829690-85173253)x3	CHMP4C, FABP12 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340784	GRCh37/hg19 8q21.13(chr8:81991684-82523573)x3	FABP12, FABP4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979838	GRCh37/hg19 8q21.13(chr8:81895303-82546283)x3	PAG1, FABP9 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 443624	GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1	CHMP4C, FABP12 +20 more	Copy number loss	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic

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Items: 53