REG1B[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 150241	GRCh38/hg38 2p12(chr2:78202871-79113257)x3	LOC101927967, LOC105374820 +3 more	Copy number gain	See cases	GLikely benign
Select item 3313554	NM_006507.4(REG1B):c.484T>G (p.Cys162Gly)	REG1B (C162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396683	NM_006507.4(REG1B):c.478T>C (p.Phe160Leu)	REG1B (F160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313556	NM_006507.4(REG1B):c.456A>T (p.Glu152Asp)	REG1B (E152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313557	NM_006507.4(REG1B):c.329G>T (p.Arg110Leu)	REG1B (R110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267736	NM_006507.4(REG1B):c.262A>G (p.Ile88Val)	REG1B (I88V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2279336	NM_006507.4(REG1B):c.236C>T (p.Ala79Val)	REG1B (A79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350712	NM_006507.4(REG1B):c.217G>T (p.Val73Leu)	REG1B (V73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470402	NM_006507.4(REG1B):c.206C>T (p.Ser69Leu)	REG1B (S69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600851	NM_006507.4(REG1B):c.203A>T (p.Asn68Ile)	REG1B (N68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359484	NM_006507.4(REG1B):c.163G>A (p.Glu55Lys)	REG1B (E55K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206091	NM_006507.4(REG1B):c.145T>G (p.Tyr49Asp)	REG1B (Y49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324686	NM_006507.4(REG1B):c.17C>G (p.Ser6Trp)	REG1B (S6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302871	NM_006507.4(REG1B):c.17C>T (p.Ser6Leu)	REG1B (S6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 980973	GRCh37/hg19 2p12(chr2:76035305-81220405)x1	CTNNA2, LRRTM1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 980436	GRCh37/hg19 2p12(chr2:77977261-79488901)x1	REG3A, REG1B +2 more	Copy number loss	not provided	GUncertain significance
Select item 689090	GRCh37/hg19 2p12(chr2:78114851-82104559)x1	CTNNA2, LRRTM1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 687099	GRCh37/hg19 2p12(chr2:76157543-82375906)x1	CTNNA2, LRRTM1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 685860	GRCh37/hg19 2p13.1-12(chr2:74972080-83043893)x1	CTNNA2, EVA1A +11 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 394050	GRCh37/hg19 2p12(chr2:79255310-79312949)x3	REG1B, REG3G	Copy number gain	See cases	GLikely benign
Select item 393714	GRCh37/hg19 2p12(chr2:79255310-79314529)x3	REG3G, REG1B	Copy number gain	See cases	GLikely benign

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Items: 33