799[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	ASB4, BET1 +110 more	Copy number loss	See cases	GPathogenic
Select item 148490	GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)x1	BET1, BET1-AS1 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 160866	GRCh38/hg38 7q21.3(chr7:93410151-93604672)x1	CALCR, MIR489 +1 more	Copy number loss	See cases	GUncertain significance
Select item 146434	GRCh38/hg38 7q21.3(chr7:93410151-93604672)x1	CALCR, MIR489 +1 more	Copy number loss	See cases	GUncertain significance
Select item 1230521	NM_001742.4(CALCR):c.*18C>T	CALCR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3043898	NM_001742.4(CALCR):c.1369G>A (p.Glu457Lys)	CALCR (E457K +1 more)	Single nucleotide variant (missense variant)	CALCR-related condition	GLikely benign
Select item 1177287	NM_001742.4(CALCR):c.1358del (p.Asn453fs)	CALCR (N453fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2317477	NM_001742.4(CALCR):c.1349A>G (p.Glu450Gly)	CALCR (E450G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 17636	NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro)	CALCR (L447P +1 more)	Single nucleotide variant (missense variant)	CALCR-related condition +1 more	GBenign
Select item 2605943	NM_001742.4(CALCR):c.1339C>A (p.Leu447Met)	CALCR (L463M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731330	NM_001742.4(CALCR):c.1285G>T (p.Ala429Ser)	CALCR (A429S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2527780	NM_001742.4(CALCR):c.1265C>G (p.Ser422Cys)	CALCR (S438C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215006	NM_001742.4(CALCR):c.1247G>A (p.Arg416His)	CALCR (R432H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271117	NM_001742.4(CALCR):c.1226T>C (p.Phe409Ser)	CALCR (F425S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1289488	NM_001742.4(CALCR):c.1192-326T>C	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224047	NM_001742.4(CALCR):c.1191+167C>A	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274232	NM_001742.4(CALCR):c.1150-108_1150-107dup	CALCR	Duplication (intron variant)	not provided	GBenign
Select item 1270922	NM_001742.4(CALCR):c.1150-108_1150-105dup	CALCR	Duplication (intron variant)	not provided	GBenign
Select item 1243938	NM_001742.4(CALCR):c.1150-108dup	CALCR	Duplication (intron variant)	not provided	GBenign
Select item 1243075	NM_001742.4(CALCR):c.1150-216C>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250902	NM_001742.4(CALCR):c.1150-238T>A	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222864	NM_001742.4(CALCR):c.1150-311_1150-310dup	CALCR	Duplication (intron variant)	not provided	GBenign
Select item 1261013	NM_001742.4(CALCR):c.1150-301del	CALCR	Deletion (intron variant)	not provided	GBenign
Select item 1237362	NM_001742.4(CALCR):c.1149+149C>G	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182593	NM_001742.4(CALCR):c.1149+138A>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263502	NM_001742.4(CALCR):c.1149+104TATT[5]	CALCR	Microsatellite (intron variant)	not provided	GBenign
Select item 1228199	NM_001742.4(CALCR):c.1149+125A>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244119	NM_001742.4(CALCR):c.1149+123_1149+124insA	CALCR	Insertion (intron variant)	not provided	GBenign
Select item 1274911	NM_001742.4(CALCR):c.1149+72A>G	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2607886	NM_001742.4(CALCR):c.1090T>C (p.Ser364Pro)	CALCR (S380P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049696	NM_001742.4(CALCR):c.993T>C (p.His331=)	CALCR	Single nucleotide variant (synonymous variant)	CALCR-related condition	GLikely benign
Select item 1230289	NM_001742.4(CALCR):c.931-189_931-187del	CALCR	Deletion (intron variant)	not provided	GBenign
Select item 1237108	NM_001742.4(CALCR):c.931-271G>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228298	NM_001742.4(CALCR):c.930+37del	CALCR	Deletion (intron variant)	not provided	GBenign
Select item 785224	NM_001742.4(CALCR):c.903C>A (p.Ile301=)	CALCR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2249316	NM_001742.4(CALCR):c.851A>T (p.Tyr284Phe)	CALCR (Y284F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1263835	NM_001742.4(CALCR):c.802+245C>A	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785225	NM_001742.4(CALCR):c.765G>A (p.Glu255=)	CALCR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1260270	NM_001742.4(CALCR):c.649-78G>C	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251223	NM_001742.4(CALCR):c.649-303A>C	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275083	NM_001742.4(CALCR):c.648+124C>A	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285837	NM_001742.4(CALCR):c.648G>A (p.Pro216=)	CALCR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2487636	NM_001742.4(CALCR):c.638G>A (p.Arg213Gln)	CALCR (R213Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235654	NM_001742.4(CALCR):c.553A>G (p.Lys185Glu)	CALCR (K185E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033180	NM_001742.4(CALCR):c.524G>A (p.Ser175Asn)	CALCR (S175N +1 more)	Single nucleotide variant (missense variant)	CALCR-related condition	GBenign
Select item 1226058	NM_001742.4(CALCR):c.522-327A>G	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282904	NM_001742.4(CALCR):c.522-979C>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282227	NM_001742.4(CALCR):c.522-1226A>G	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270084	NM_001742.4(CALCR):c.522-1229G>A	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230756	NM_001742.4(CALCR):c.522-1328A>C	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239861	NM_001742.4(CALCR):c.522-1329G>A	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246386	NM_001742.4(CALCR):c.522-1355C>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271156	NM_001742.4(CALCR):c.522-1472C>G	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286780	NM_001742.4(CALCR):c.521+53C>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2657679	NM_001742.4(CALCR):c.521+3A>G	CALCR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3039657	NM_001742.4(CALCR):c.478A>G (p.Ile160Val)	CALCR (I160V)	Single nucleotide variant (missense variant)	CALCR-related condition	GLikely benign
Select item 2272473	NM_001742.4(CALCR):c.449A>G (p.Tyr150Cys)	CALCR (Y150C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327967	NM_001742.4(CALCR):c.434C>T (p.Ala145Val)	CALCR (A145V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1286997	NM_001742.4(CALCR):c.430-29GTTT[5]	CALCR	Microsatellite (intron variant)	not provided	GBenign
Select item 1178760	NM_001742.4(CALCR):c.430-29GTTT[6]	CALCR	Microsatellite (intron variant)	not provided	GBenign
Select item 1225918	NM_001742.4(CALCR):c.430-77T>G	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245623	NM_001742.4(CALCR):c.430-120T>C	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245484	NM_001742.4(CALCR):c.429+266C>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260439	NM_001742.4(CALCR):c.429+37T>C	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2537460	NM_001742.4(CALCR):c.427A>G (p.Lys143Glu)	CALCR (K143E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1290007	NM_001742.4(CALCR):c.317-192A>G	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246613	NM_001742.4(CALCR):c.317-282del	CALCR	Deletion (intron variant)	not provided	GBenign
Select item 1246140	NM_001742.4(CALCR):c.316+326A>G	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785226	NM_001742.4(CALCR):c.206-3C>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222355	NM_001742.4(CALCR):c.206-113T>G	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272830	NM_001742.4(CALCR):c.205+182C>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2320061	NM_001742.4(CALCR):c.193T>G (p.Tyr65Asp)	CALCR (Y65D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545287	NM_001742.4(CALCR):c.179A>G (p.Gln60Arg)	CALCR (Q60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465180	NM_001742.4(CALCR):c.173G>A (p.Arg58Gln)	CALCR (R58Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370556	NM_001742.4(CALCR):c.149A>G (p.Asp50Gly)	CALCR (D50G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298943	NM_001742.4(CALCR):c.149A>C (p.Asp50Ala)	CALCR (D50A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717880	NM_001742.4(CALCR):c.127G>A (p.Val43Ile)	CALCR (V43I)	Single nucleotide variant (missense variant)	CALCR-related condition +1 more	GBenign/Likely benign
Select item 3035666	NM_001742.4(CALCR):c.81A>G (p.Ser27=)	CALCR	Single nucleotide variant (synonymous variant)	CALCR-related condition	GLikely benign
Select item 1180947	NM_001742.4(CALCR):c.52-250GT[4]	CALCR	Microsatellite (intron variant)	not provided	GBenign
Select item 1288551	NM_001742.4(CALCR):c.52-264A>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225256	NM_001742.4(CALCR):c.51+105C>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2369633	NM_001742.4(CALCR):c.23G>A (p.Arg8Gln)	CALCR (R8Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1274950	NM_001742.4(CALCR):c.-6T>C	CALCR	Single nucleotide variant (5 prime UTR variant)	CALCR-related condition +1 more	GBenign
Select item 1228304	NM_001742.4(CALCR):c.-26-78dup	CALCR	Duplication (intron variant)	not provided	GBenign
Select item 1277361	NM_001742.4(CALCR):c.-26-8791A>G	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273724	NM_001742.4(CALCR):c.-26-9245G>T	CALCR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1809351	GRCh37/hg19 7q21.3(chr7:93024221-93276286)x1	CALCR, MIR489	Copy number loss	not provided	GUncertain significance
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527377	GRCh37/hg19 7q21.2-21.3(chr7:92044792-93320149)	CALCR, CDK6 +10 more	Copy number loss	not specified	GUncertain significance
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563363	GRCh37/hg19 7q21.3(chr7:93006562-93511541)x3	CALCR, MIR489	Copy number gain	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	ARPC1A, ARPC1B +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic

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