ClinVar for Gene (Select 5967) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2601506	NM_002909.5(REG1A):c.172G>A (p.Val58Ile)	REG1A (V58I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515206	NM_002909.5(REG1A):c.449A>G (p.Lys150Arg)	REG1A (K150R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391313	NM_002909.5(REG1A):c.325C>T (p.Arg109Cys)	REG1A (R109C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359920	NM_002909.5(REG1A):c.389G>A (p.Ser130Asn)	REG1A (S130N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1712417	NM_002909.5(REG1A):c.168C>T (p.Thr56=)	REG1A	Single nucleotide variant (synonymous variant)	Kidney disorder	GLikely benign
Select item 1712407	NM_002909.5(REG1A):c.80C>G (p.Thr27Arg)	REG1A (T27R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	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 737592	NM_002909.5(REG1A):c.30G>C (p.Leu10=)	REG1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718409	NM_002909.5(REG1A):c.450G>A (p.Lys150=)	REG1A	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	REEP1, REG1A +81 more	Copy number loss	See cases	GPathogenic
Select item 155576	GRCh38/hg38 2p12(chr2:79119966-80133374)x3	CTNNA2, CTNNA2-AS1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +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

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Links from Gene

Items: 26