PIMREG[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	ACADVL, ACAP1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 3213094	NM_019013.3(PIMREG):c.8C>T (p.Ser3Phe)	PIMREG (S3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213084	NM_019013.3(PIMREG):c.34G>A (p.Val12Met)	PIMREG (V12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467594	NM_019013.3(PIMREG):c.82G>A (p.Glu28Lys)	PIMREG (E28K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213081	NM_019013.3(PIMREG):c.187C>T (p.Leu63Phe)	PIMREG (L63F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213082	NM_019013.3(PIMREG):c.286G>A (p.Val96Met)	PIMREG (V96M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213083	NM_019013.3(PIMREG):c.346G>C (p.Val116Leu)	PIMREG (V116L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213085	NM_019013.3(PIMREG):c.361C>T (p.Arg121Trp)	PIMREG (R121W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213086	NM_019013.3(PIMREG):c.362G>A (p.Arg121Gln)	PIMREG (R121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546070	NM_019013.3(PIMREG):c.424C>G (p.Arg142Gly)	PIMREG (R142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213087	NM_019013.3(PIMREG):c.443C>A (p.Pro148His)	PIMREG (P148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213088	NM_019013.3(PIMREG):c.496C>T (p.Arg166Trp)	PIMREG (R166W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213089	NM_019013.3(PIMREG):c.524G>A (p.Arg175Gln)	PIMREG (R175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213090	NM_019013.3(PIMREG):c.538G>C (p.Glu180Gln)	PIMREG (E180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610930	NM_019013.3(PIMREG):c.551G>A (p.Arg184Gln)	PIMREG (R184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213091	NM_019013.3(PIMREG):c.592G>A (p.Glu198Lys)	PIMREG (E198K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213092	NM_019013.3(PIMREG):c.613C>T (p.Pro205Ser)	PIMREG (P205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213093	NM_019013.3(PIMREG):c.650C>T (p.Ser217Phe)	PIMREG (S217F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460341	NM_019013.3(PIMREG):c.677C>T (p.Ala226Val)	PIMREG (A226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460694	NM_019013.3(PIMREG):c.*64G>A	PIMREG (A246T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 324652	NM_019013.3(PIMREG):c.*944G>A	PIMREG, PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324653	NM_019013.3(PIMREG):c.*1113C>T	PIMREG, PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2427557	NC_000017.10:g.(?_5289526)_(6616652_?)dup	AIPL1, C17orf100 +14 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2425945	NC_000017.10:g.(?_6328780)_(6428803_?)dup	AIPL1, PIMREG +1 more	Duplication	not provided	GUncertain significance
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	POLR2A, RNASEK +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1340174	GRCh37/hg19 17p13.2-13.1(chr17:6248108-6637236)x1	AIPL1, C17orf100 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1020704	NC_000017.10:g.(?_6328780)_(7128416_?)dup	ACADVL, AIPL1 +22 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 686933	GRCh37/hg19 17p13.2-13.1(chr17:6246288-6558011)x3	AIPL1, C17orf100 +5 more	Copy number gain	not provided	GUncertain significance
Select item 583807	NC_000017.10:g.(?_6328760)_(6616672_?)del	AIPL1, C17orf100 +6 more	Deletion	Developmental and epileptic encephalopathy, 25 +1 more	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443869	GRCh37/hg19 17p13.2(chr17:5871307-6472074)x4	AIPL1, PIMREG +2 more	Copy number gain	See cases	GUncertain significance
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic

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Items: 45