ClinVar for Gene (Select 8804) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060330	NM_003851.3(CREG1):c.132C>T (p.Ser44=)	CREG1, LOC129931856	Single nucleotide variant (synonymous variant)	CREG1-related condition	GLikely benign
Select item 3050509	NM_003851.3(CREG1):c.255C>T (p.Phe85=)	CREG1, LOC129931856	Single nucleotide variant (synonymous variant)	CREG1-related condition	GLikely benign
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2621422	NM_003851.3(CREG1):c.131C>T (p.Ser44Phe)	CREG1, LOC129931856 (S44F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544949	NM_003851.3(CREG1):c.611G>A (p.Gly204Asp)	CREG1 (G204D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427631	NC_000001.10:g.(?_167400918)_(168282240_?)dup	ADCY10, CD247 +9 more	Duplication	Immunodeficiency 25	GUncertain significance
Select item 2375624	NM_003851.3(CREG1):c.89G>A (p.Arg30Gln)	CREG1, LOC129931856 (R30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341352	NM_003851.3(CREG1):c.647A>T (p.Asn216Ile)	CREG1 (N216I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336040	NM_003851.3(CREG1):c.16C>T (p.Arg6Cys)	CREG1, LOC129931856 (R6C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331965	NM_003851.3(CREG1):c.32C>T (p.Ala11Val)	CREG1, LOC129931856 (A11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314658	NM_003851.3(CREG1):c.43G>A (p.Ala15Thr)	CREG1, LOC129931856 (A15T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225923	NM_003851.3(CREG1):c.140C>T (p.Pro47Leu)	CREG1, LOC129931856 (P47L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 814136	GRCh37/hg19 1q24.1-24.2(chr1:166284108-167681975)x1	CREG1, TADA1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	ADCY10, ALDH9A1 +407 more	Copy number loss	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 29