CMKLR2[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150331	GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4	ADAM23, CMKLR2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 2541784	NM_001389445.1(CMKLR2):c.1055A>T (p.Glu352Val)	CMKLR2 (E352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146238	NM_001389445.1(CMKLR2):c.956T>G (p.Val319Gly)	CMKLR2 (V319G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520791	NM_001389445.1(CMKLR2):c.940C>T (p.Arg314Cys)	CMKLR2 (R314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1238518	NM_001389445.1(CMKLR2):c.919A>G (p.Ile307Val)	CMKLR2 (I307V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3267976	NM_001389445.1(CMKLR2):c.898A>C (p.Asn300His)	CMKLR2 (N300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146237	NM_001389445.1(CMKLR2):c.896T>C (p.Leu299Ser)	CMKLR2 (L299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518129	NM_001389445.1(CMKLR2):c.875T>G (p.Leu292Trp)	CMKLR2 (L292W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709569	NM_001389445.1(CMKLR2):c.862dup (p.Leu288fs)	CMKLR2 (L288fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 3146236	NM_001389445.1(CMKLR2):c.862C>T (p.Leu288Phe)	CMKLR2 (L288F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518128	NM_001389445.1(CMKLR2):c.767T>C (p.Val256Ala)	CMKLR2 (V256A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146235	NM_001389445.1(CMKLR2):c.713T>C (p.Ile238Thr)	CMKLR2 (I238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146234	NM_001389445.1(CMKLR2):c.609C>A (p.His203Gln)	CMKLR2 (H203Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267980	NM_001389445.1(CMKLR2):c.605G>A (p.Arg202Lys)	CMKLR2 (R202K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267978	NM_001389445.1(CMKLR2):c.568A>G (p.Asn190Asp)	CMKLR2 (N190D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146233	NM_001389445.1(CMKLR2):c.535G>A (p.Val179Met)	CMKLR2 (V179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146232	NM_001389445.1(CMKLR2):c.527G>A (p.Arg176Gln)	CMKLR2 (R176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146231	NM_001389445.1(CMKLR2):c.476T>C (p.Ile159Thr)	CMKLR2 (I159T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146230	NM_001389445.1(CMKLR2):c.413A>G (p.His138Arg)	CMKLR2 (H138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146229	NM_001389445.1(CMKLR2):c.383T>G (p.Leu128Arg)	CMKLR2 (L128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146228	NM_001389445.1(CMKLR2):c.245C>T (p.Ala82Val)	CMKLR2 (A82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267979	NM_001389445.1(CMKLR2):c.239C>A (p.Ala80Asp)	CMKLR2 (A80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146226	NM_001389445.1(CMKLR2):c.203A>G (p.Lys68Arg)	CMKLR2 (K68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146224	NM_001389445.1(CMKLR2):c.188C>T (p.Thr63Met)	CMKLR2 (T63M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267977	NM_001389445.1(CMKLR2):c.164G>A (p.Gly55Glu)	CMKLR2 (G55E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267981	NM_001389445.1(CMKLR2):c.149T>C (p.Val50Ala)	CMKLR2 (V50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146225	NM_001389445.1(CMKLR2):c.18A>C (p.Glu6Asp)	CMKLR2 (E6D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	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 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ABI2, ACADL +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 1340613	GRCh37/hg19 2q33.3(chr2:206887779-207064790)x1	CMKLR2, EEF1B2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 988910	GRCh37/hg19 2q33.2-33.3(chr2:204312776-208235204)x3	CD28, CMKLR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
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

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Items: 54