CALCRL[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	LOC129935268, LOC129935269 +329 more	Copy number loss	See cases	GPathogenic
Select item 147423	GRCh38/hg38 2q32.1(chr2:187224421-187420039)x1	CALCRL, CALCRL-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 778263	NM_005795.6(CALCRL):c.1292G>T (p.Gly431Val)	CALCRL, CALCRL-AS1 (G431V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2377736	NM_005795.6(CALCRL):c.1256C>T (p.Ala419Val)	CALCRL, CALCRL-AS1 (A419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136667	NM_005795.6(CALCRL):c.1240G>A (p.Glu414Lys)	CALCRL, CALCRL-AS1 (E414K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1192647	NM_005795.6(CALCRL):c.1128+34A>G	CALCRL, CALCRL-AS1	Single nucleotide variant (intron variant)	Lymphatic malformation 8	GBenign
Select item 2533700	NM_005795.6(CALCRL):c.1066C>A (p.Pro356Thr)	CALCRL, CALCRL-AS1 (P356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393068	NM_005795.6(CALCRL):c.940C>T (p.Arg314Cys)	CALCRL, CALCRL-AS1 (R314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136670	NM_005795.6(CALCRL):c.892A>G (p.Ile298Val)	CALCRL, CALCRL-AS1 (I298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1192648	NM_005795.6(CALCRL):c.782-58T>C	CALCRL, CALCRL-AS1	Single nucleotide variant (intron variant)	Lymphatic malformation 8	GBenign
Select item 789709	NM_005795.6(CALCRL):c.777C>T (p.Gly259=)	CALCRL, CALCRL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 812514	NM_005795.6(CALCRL):c.611TAG[1] (p.Val205del)	CALCRL, CALCRL-AS1 (V205del)	Microsatellite (inframe_deletion)	Lymphatic malformation 8	GPathogenic
Select item 2544189	NM_005795.6(CALCRL):c.600C>G (p.Asn200Lys)	CALCRL, CALCRL-AS1 (N200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387956	NM_005795.6(CALCRL):c.600C>A (p.Asn200Lys)	CALCRL, CALCRL-AS1 (N200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595633	NM_005795.6(CALCRL):c.589G>A (p.Ala197Thr)	CALCRL, CALCRL-AS1 (A197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484729	NM_005795.6(CALCRL):c.457A>G (p.Ile153Val)	CALCRL, CALCRL-AS1 (I153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527781	NM_005795.6(CALCRL):c.415C>G (p.Leu139Val)	CALCRL, CALCRL-AS1 (L139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136668	NM_005795.6(CALCRL):c.187G>A (p.Val63Ile)	CALCRL, CALCRL-AS1 (V63I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136669	NM_005795.6(CALCRL):c.78G>C (p.Glu26Asp)	CALCRL, CALCRL-AS1 (E26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311065	NM_005795.6(CALCRL):c.62C>T (p.Thr21Ile)	CALCRL, CALCRL-AS1 (T21I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2684897	GRCh37/hg19 2q32.1(chr2:188141690-188459827)x1	CALCRL, TFPI	Copy number loss	not provided	GUncertain significance
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 1809170	GRCh37/hg19 2q32.1(chr2:187466416-188487473)x3	CALCRL, FAM171B +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 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 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
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 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 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 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 687001	GRCh37/hg19 2q32.1(chr2:186234826-188972311)x3	CALCRL, FAM171B +5 more	Copy number gain	not provided	GUncertain significance
Select item 685156	GRCh37/hg19 2q32.1(chr2:186861444-188658263)x1	CALCRL, FAM171B +4 more	Copy number loss	not provided	GUncertain significance
Select item 635896	Single allele	CALCRL, FAM171B +5 more	Deletion	Neurodevelopmental disorder	GPathogenic
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 394205	GRCh37/hg19 2q32.1(chr2:187976139-188252370)x3	CALCRL	Copy number gain	See cases	GLikely benign
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 49