CALD1[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 2617756	NM_033138.4(CALD1):c.20G>A (p.Arg7His)	CALD1 (R7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531006	NM_033138.4(CALD1):c.202G>A (p.Val68Met)	CALD1 (V62M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727128	NM_033138.4(CALD1):c.229G>A (p.Glu77Lys)	CALD1 (E77K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2247652	NM_033138.4(CALD1):c.296G>A (p.Arg99His)	CALD1 (R93H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225286	NM_033138.4(CALD1):c.359A>C (p.Glu120Ala)	CALD1 (E114A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717728	NM_033138.4(CALD1):c.364G>A (p.Asp122Asn)	CALD1 (D116N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3136675	NM_033138.4(CALD1):c.379G>A (p.Asp127Asn)	CALD1 (D121N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262961	NM_033138.4(CALD1):c.392C>T (p.Ser131Leu)	CALD1 (S131L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136676	NM_033138.4(CALD1):c.394C>T (p.Leu132Phe)	CALD1 (L132F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770376	NM_033138.4(CALD1):c.407G>A (p.Arg136Lys)	CALD1 (R130K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3136677	NM_033138.4(CALD1):c.448G>A (p.Glu150Lys)	CALD1 (E144K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262963	NM_033138.4(CALD1):c.466C>T (p.Arg156Cys)	CALD1 (R150C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262962	NM_033138.4(CALD1):c.472G>A (p.Glu158Lys)	CALD1 (E152K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398187	NM_033138.4(CALD1):c.476G>A (p.Arg159Lys)	CALD1 (R159K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773905	NM_033138.4(CALD1):c.512C>T (p.Ser171Phe)	CALD1 (S171F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2296030	NM_033138.4(CALD1):c.533G>C (p.Arg178Thr)	CALD1 (R178T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212900	NM_033138.4(CALD1):c.593C>G (p.Pro198Arg)	CALD1 (P192R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620316	NM_033138.4(CALD1):c.733G>C (p.Glu245Gln)	CALD1 (E245Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709813	NM_033138.4(CALD1):c.771G>A (p.Met257Ile)	CALD1 (M257I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3136678	NM_033138.4(CALD1):c.845C>T (p.Ala282Val)	CALD1 (A282V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136679	NM_033138.4(CALD1):c.859A>C (p.Lys287Gln)	CALD1 (K287Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136680	NM_033138.4(CALD1):c.863T>C (p.Ile288Thr)	CALD1 (I288T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732189	NM_033138.4(CALD1):c.951G>A (p.Met317Ile)	CALD1 (M317I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774317	NM_033138.4(CALD1):c.954GGA[1] (p.Glu321del)	CALD1 (E321del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 791571	NM_033138.4(CALD1):c.971C>A (p.Ala324Glu)	CALD1 (A324E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3136672	NM_033138.4(CALD1):c.1037A>G (p.Lys346Arg)	CALD1 (K346R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 759456	NM_033138.4(CALD1):c.1080A>G (p.Lys360=)	CALD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2323654	NM_033138.4(CALD1):c.1117G>A (p.Ala373Thr)	CALD1 (A373T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136673	NM_033138.4(CALD1):c.1153G>A (p.Glu385Lys)	CALD1 (E385K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293906	NM_033138.4(CALD1):c.1217G>C (p.Gly406Ala)	CALD1 (G406A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594739	NM_033138.4(CALD1):c.1294G>T (p.Val432Phe)	CALD1 (V432F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400606	NM_033138.4(CALD1):c.1350G>C (p.Lys450Asn)	CALD1 (K215N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343801	NM_033138.4(CALD1):c.1391A>G (p.Lys464Arg)	CALD1 (K203R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277347	NM_033138.4(CALD1):c.1400A>C (p.Lys467Thr)	CALD1 (K212T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387788	NM_033138.4(CALD1):c.1424A>G (p.Lys475Arg)	CALD1 (K214R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481472	NM_033138.4(CALD1):c.1430A>T (p.Glu477Val)	CALD1 (E216V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491417	NM_033138.4(CALD1):c.1466C>T (p.Thr489Ile)	CALD1 (T260I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559225	NM_033138.4(CALD1):c.1531A>C (p.Ser511Arg)	CALD1 (S256R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291796	NM_033138.4(CALD1):c.1541G>A (p.Gly514Glu)	CALD1 (G279E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492921	NM_033138.4(CALD1):c.1619G>A (p.Arg540His)	CALD1 (R305H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737584	NM_033138.4(CALD1):c.1685C>T (p.Ala562Val)	CALD1 (A301V +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2217581	NM_033138.4(CALD1):c.1838C>G (p.Ala613Gly)	CALD1 (A384G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742033	NM_033138.4(CALD1):c.1995G>A (p.Ser665=)	CALD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716957	NM_033138.4(CALD1):c.2011A>G (p.Ile671Val)	CALD1 (I410V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3262964	NM_033138.4(CALD1):c.2044T>C (p.Tyr682His)	CALD1 (Y427H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136674	NM_033138.4(CALD1):c.2093C>A (p.Ala698Glu)	CALD1 (A443E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509375	NM_033138.4(CALD1):c.2285C>T (p.Pro762Leu)	CALD1 (P501L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599274	NM_033138.4(CALD1):c.2320A>G (p.Ser774Gly)	CALD1 (S513G +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 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 1527402	GRCh37/hg19 7q33(chr7:134128369-134656514)	AKR1B1, AKR1B10 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 689118	GRCh37/hg19 7q33(chr7:134648448-137942208)x1	AGBL3, AKR1D1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	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 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563417	GRCh37/hg19 7q33(chr7:133230189-137972605)x1	AKR1B10, STRA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 443704	GRCh37/hg19 7q33(chr7:134379624-135927947)x3	AGBL3, CALD1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395363	GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	AGBL3, AKR1B1 +38 more	Copy number loss	See cases	GPathogenic

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Items: 84