CMKLR1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 2339395	NM_001142343.2(CMKLR1):c.1061C>T (p.Thr354Ile)	CMKLR1 (T352I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479295	NM_001142343.2(CMKLR1):c.1028G>T (p.Gly343Val)	CMKLR1 (G341V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319817	NM_001142343.2(CMKLR1):c.1007A>G (p.Asn336Ser)	CMKLR1 (N336S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545253	NM_001142343.2(CMKLR1):c.913G>C (p.Ala305Pro)	CMKLR1 (A303P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708327	NM_001142343.2(CMKLR1):c.867G>T (p.Met289Ile)	CMKLR1 (M287I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2330827	NM_001142343.2(CMKLR1):c.829C>G (p.His277Asp)	CMKLR1 (H277D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613623	NM_001142343.2(CMKLR1):c.824C>T (p.Pro275Leu)	CMKLR1 (P275L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540398	NM_001142343.2(CMKLR1):c.768G>C (p.Lys256Asn)	CMKLR1 (K254N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146223	NM_001142343.2(CMKLR1):c.752G>T (p.Arg251Leu)	CMKLR1 (R249L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146222	NM_001142343.2(CMKLR1):c.746G>A (p.Arg249His)	CMKLR1 (R247H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146221	NM_001142343.2(CMKLR1):c.641A>G (p.Tyr214Cys)	CMKLR1 (Y212C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526210	NM_001142343.2(CMKLR1):c.607T>A (p.Trp203Arg)	CMKLR1 (W201R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520262	NM_001142343.2(CMKLR1):c.605C>T (p.Ser202Leu)	CMKLR1 (S200L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290704	NM_001142343.2(CMKLR1):c.595G>A (p.Gly199Arg)	CMKLR1 (G197R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544274	NM_001142343.2(CMKLR1):c.582C>G (p.Ser194Arg)	CMKLR1 (S192R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469015	NM_001142343.2(CMKLR1):c.487A>G (p.Ile163Val)	CMKLR1 (I163V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595285	NM_001142343.2(CMKLR1):c.478T>C (p.Cys160Arg)	CMKLR1 (C160R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146220	NM_001142343.2(CMKLR1):c.472A>G (p.Met158Val)	CMKLR1 (M156V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2550745	NM_001142343.2(CMKLR1):c.378C>A (p.Ser126Arg)	CMKLR1 (S126R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146219	NM_001142343.2(CMKLR1):c.367A>G (p.Met123Val)	CMKLR1 (M121V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519037	NM_001142343.2(CMKLR1):c.331A>G (p.Met111Val)	CMKLR1 (M111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455884	NM_001142343.2(CMKLR1):c.325A>T (p.Thr109Ser)	CMKLR1 (T107S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267974	NM_001142343.2(CMKLR1):c.322G>A (p.Gly108Arg)	CMKLR1 (G106R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267973	NM_001142343.2(CMKLR1):c.274C>G (p.Leu92Val)	CMKLR1 (L92V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386308	NM_001142343.2(CMKLR1):c.223A>G (p.Met75Val)	CMKLR1 (M73V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146217	NM_001142343.2(CMKLR1):c.205A>G (p.Met69Val)	CMKLR1 (M67V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522409	NM_001142343.2(CMKLR1):c.157C>T (p.Leu53Phe)	CMKLR1 (L53F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146216	NM_001142343.2(CMKLR1):c.131T>C (p.Val44Ala)	CMKLR1 (V44A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215110	NM_001142343.2(CMKLR1):c.130G>A (p.Val44Met)	CMKLR1 (V44M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353234	NM_001142343.2(CMKLR1):c.109A>G (p.Arg37Gly)	CMKLR1 (R35G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267975	NM_001142343.2(CMKLR1):c.98C>T (p.Pro33Leu)	CMKLR1 (P31L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 42