LOC129992745[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 146518	GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1	ANTXR2, BMP3 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 more	Copy number loss	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 787806	NM_001099403.2(PRDM8):c.1464G>A (p.Gly488=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2111018	NM_001099403.2(PRDM8):c.1465G>C (p.Gly489Arg)	LOC129992745, PRDM8 (G489R)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 936105	NM_001099403.2(PRDM8):c.1465G>A (p.Gly489Ser)	LOC129992745, PRDM8 (G489S)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1400069	NM_001099403.2(PRDM8):c.1466G>T (p.Gly489Val)	LOC129992745, PRDM8 (G489V)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 475670	NM_001099403.2(PRDM8):c.1466G>A (p.Gly489Asp)	LOC129992745, PRDM8 (G489D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 570269	NM_001099403.2(PRDM8):c.1468C>G (p.Gln490Glu)	LOC129992745, PRDM8 (Q490E)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 581117	NM_001099403.2(PRDM8):c.1474G>A (p.Ala492Thr)	LOC129992745, PRDM8 (A492T)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1591986	NM_001099403.2(PRDM8):c.1476C>G (p.Ala492=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1089809	NM_001099403.2(PRDM8):c.1476C>T (p.Ala492=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2103755	NM_001099403.2(PRDM8):c.1478C>G (p.Ala493Gly)	LOC129992745, PRDM8 (A493G)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1026070	NM_001099403.2(PRDM8):c.1481C>G (p.Ser494Trp)	LOC129992745, PRDM8 (S494W)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 1113475	NM_001099403.2(PRDM8):c.1485C>T (p.Asp495=)	PRDM8, LOC129992745	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1078614	NM_001099403.2(PRDM8):c.1494A>G (p.Lys498=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2741950	NM_001099403.2(PRDM8):c.1497C>T (p.Ser499=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 2061056	NM_001099403.2(PRDM8):c.1511_1531dup (p.Gln510_Leu511insProAlaArgSerPheSerGln)	LOC129992745, PRDM8	Duplication (inframe_insertion)	Early-onset Lafora body disease	GUncertain significance
Select item 1458201	NM_001099403.2(PRDM8):c.1503C>T (p.Phe501=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 772026	NM_001099403.2(PRDM8):c.1506G>A (p.Ser502=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GBenign
Select item 1717471	NM_001099403.2(PRDM8):c.1508A>G (p.Gln503Arg)	LOC129992745, PRDM8 (Q503R)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2269699	NM_001099403.2(PRDM8):c.1517G>C (p.Arg506Pro)	LOC129992745, PRDM8 (R506P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1583937	NM_001099403.2(PRDM8):c.1521T>C (p.Ser507=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 1953108	NM_001099403.2(PRDM8):c.1526C>T (p.Ser509Leu)	LOC129992745, PRDM8 (S509L)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 475671	NM_001099403.2(PRDM8):c.1530G>T (p.Gln510His)	LOC129992745, PRDM8 (Q510H)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2026772	NM_001099403.2(PRDM8):c.1535C>A (p.Ser512Tyr)	LOC129992745, PRDM8 (S512Y)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 2156019	NM_001099403.2(PRDM8):c.1546C>T (p.Leu516=)	LOC129992745, PRDM8	Single nucleotide variant (synonymous variant)	Early-onset Lafora body disease	GLikely benign
Select item 950793	NM_001099403.2(PRDM8):c.1552C>T (p.Gln518Ter)	LOC129992745, PRDM8 (Q518*)	Single nucleotide variant (nonsense)	Early-onset Lafora body disease	GUncertain significance
Select item 940145	NM_001099403.2(PRDM8):c.1553A>G (p.Gln518Arg)	LOC129992745, PRDM8 (Q518R)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance
Select item 941638	NM_001099403.2(PRDM8):c.1562G>A (p.Gly521Asp)	LOC129992745, PRDM8 (G521D)	Single nucleotide variant (missense variant)	Early-onset Lafora body disease	GUncertain significance

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Items: 37