RPAIN[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 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 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 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 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 153939	GRCh38/hg38 17p13.2(chr17:5252176-5761432)x3	C1QBP, DERL2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 145540	GRCh38/hg38 17p13.2(chr17:5385377-5943772)x3	C1QBP, DERL2 +23 more	Copy number gain	See cases	GUncertain significance
Select item 3155912	NM_001033002.4(RPAIN):c.26G>C (p.Arg9Pro)	RPAIN (R9P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363873	NM_001033002.4(RPAIN):c.422C>A (p.Thr141Lys)	RPAIN (T141K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 780394	NM_001033002.4(RPAIN):c.445A>G (p.Ser149Gly)	RPAIN (S149G)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2627106	NM_001033002.4(RPAIN):c.490-6T>C	RPAIN	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2315389	NM_001033002.4(RPAIN):c.529G>C (p.Glu177Gln)	RPAIN (E177Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2492140	NM_001033002.4(RPAIN):c.549C>A (p.His183Gln)	RPAIN (H183Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2334588	NM_001033002.4(RPAIN):c.566A>G (p.His189Arg)	RPAIN (H189R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398933	NM_001033002.4(RPAIN):c.587C>T (p.Thr196Ile)	RPAIN (T196I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206820	NM_001033002.4(RPAIN):c.598G>A (p.Glu200Lys)	RPAIN (E200K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601987	NM_001033002.4(RPAIN):c.620T>G (p.Met207Arg)	RPAIN (M207R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3155913	NM_001033002.4(RPAIN):c.630+4A>G	RPAIN (S212G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602020	NM_001033002.4(RPAIN):c.630+6C>T	RPAIN	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1234192	NM_001212.4(C1QBP):c.*147T>C	C1QBP, RPAIN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	SPEM1, SPEM2 +209 more	Duplication	not provided	GUncertain significance
Select item 3243138	NC_000017.10:g.(?_5289526)_(5342393_?)del	C1QBP, NUP88 +1 more	Deletion	not provided	GPathogenic
Select item 3063503	GRCh37/hg19 17p13.2(chr17:5308495-5619495)x3	C1QBP, DERL2 +5 more	Copy number gain	not specified	GUncertain significance
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 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	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 2423977	NC_000017.10:g.(?_5336335)_(5337107_?)del	C1QBP, RPAIN	Deletion	not provided	GPathogenic
Select item 980143	GRCh37/hg19 17p13.2(chr17:5143295-5850209)x3	RABEP1, RPAIN +6 more	Copy number gain	not provided	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	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 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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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: 41