CCP110[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 2227834	NM_001323572.2(CCP110):c.7G>A (p.Glu3Lys)	CCP110 (E3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591386	NM_001323572.2(CCP110):c.43A>G (p.Ile15Val)	CCP110 (I15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264626	NM_001323572.2(CCP110):c.167T>C (p.Met56Thr)	CCP110 (M56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140039	NM_001323572.2(CCP110):c.200A>T (p.Glu67Val)	CCP110 (E67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597001	NM_001323572.2(CCP110):c.242G>A (p.Arg81His)	CCP110 (R81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271676	NM_001323572.2(CCP110):c.247C>G (p.Gln83Glu)	CCP110 (Q83E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395743	NM_001323572.2(CCP110):c.263A>G (p.Asn88Ser)	CCP110 (N88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402510	NM_001323572.2(CCP110):c.366A>G (p.Thr122=)	CCP110	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 402511	NM_001323572.2(CCP110):c.512C>T (p.Pro171Leu)	CCP110 (P171L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3140045	NM_001323572.2(CCP110):c.696G>A (p.Met232Ile)	CCP110 (M232I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357786	NM_001323572.2(CCP110):c.743T>C (p.Leu248Pro)	CCP110 (L248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402512	NM_001323572.2(CCP110):c.756C>G (p.Ile252Met)	CCP110 (I252M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2681727	NM_001323572.2(CCP110):c.856_857del (p.Val286fs)	CCP110 (V286fs)	Microsatellite (frameshift variant)	See cases	GLikely pathogenic
Select item 2297663	NM_001323572.2(CCP110):c.878C>G (p.Pro293Arg)	CCP110 (P293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232164	NM_001323572.2(CCP110):c.925G>A (p.Ala309Thr)	CCP110 (A309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140046	NM_001323572.2(CCP110):c.934A>C (p.Met312Leu)	CCP110 (M312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461377	NM_001323572.2(CCP110):c.968T>C (p.Val323Ala)	CCP110 (V323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264623	NM_001323572.2(CCP110):c.973A>C (p.Ile325Leu)	CCP110 (I325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264624	NM_001323572.2(CCP110):c.1088A>G (p.Lys363Arg)	CCP110 (K363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264625	NM_001323572.2(CCP110):c.1118C>T (p.Pro373Leu)	CCP110 (P373L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402513	NM_001323572.2(CCP110):c.1125G>A (p.Met375Ile)	CCP110 (M375I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2681148	NM_001323572.2(CCP110):c.1129C>T (p.Arg377Ter)	CCP110 (R377*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 3140031	NM_001323572.2(CCP110):c.1130G>A (p.Arg377Gln)	CCP110 (R377Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268887	NM_001323572.2(CCP110):c.1141A>G (p.Arg381Gly)	CCP110 (R381G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509960	NM_001323572.2(CCP110):c.1169T>C (p.Ile390Thr)	CCP110 (I390T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140032	NM_001323572.2(CCP110):c.1181T>A (p.Ile394Lys)	CCP110 (I394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264621	NM_001323572.2(CCP110):c.1279A>G (p.Lys427Glu)	CCP110 (K427E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222615	NM_001323572.2(CCP110):c.1298C>T (p.Ala433Val)	CCP110 (A433V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402514	NM_001323572.2(CCP110):c.1299G>A (p.Ala433=)	CCP110	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2219168	NM_001323572.2(CCP110):c.1318G>T (p.Val440Phe)	CCP110 (V440F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538598	NM_001323572.2(CCP110):c.1402C>T (p.His468Tyr)	CCP110 (H468Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140034	NM_001323572.2(CCP110):c.1441G>A (p.Glu481Lys)	CCP110 (E481K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140035	NM_001323572.2(CCP110):c.1493G>C (p.Cys498Ser)	CCP110 (C498S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346258	NM_001323572.2(CCP110):c.1639G>A (p.Val547Ile)	CCP110 (V547I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140036	NM_001323572.2(CCP110):c.1654C>T (p.Pro552Ser)	CCP110 (P552S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770251	NM_001323572.2(CCP110):c.1679C>T (p.Thr560Met)	CCP110 (T560M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 402515	NM_001323572.2(CCP110):c.1749A>G (p.Lys583=)	CCP110	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2554535	NM_001323572.2(CCP110):c.1757G>A (p.Arg586Gln)	CCP110 (R586Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250214	NM_001323572.2(CCP110):c.1802C>T (p.Pro601Leu)	CCP110 (P601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361696	NM_001323572.2(CCP110):c.1805A>G (p.Tyr602Cys)	CCP110 (Y602C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742120	NM_001323572.2(CCP110):c.1827T>G (p.Thr609=)	CCP110	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2204121	NM_001323572.2(CCP110):c.1849C>T (p.Pro617Ser)	CCP110 (P617S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140037	NM_001323572.2(CCP110):c.1934T>C (p.Leu645Pro)	CCP110 (L645P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361473	NM_001323572.2(CCP110):c.1943A>G (p.Lys648Arg)	CCP110 (K648R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140038	NM_001323572.2(CCP110):c.1983A>G (p.Glu661=)	CCP110	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2514198	NM_001323572.2(CCP110):c.2099C>T (p.Ala700Val)	CCP110 (A700V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768759	NM_001323572.2(CCP110):c.2220T>C (p.Asn740=)	CCP110	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2391173	NM_001323572.2(CCP110):c.2302A>G (p.Thr768Ala)	CCP110 (T768A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140040	NM_001323572.2(CCP110):c.2452G>A (p.Asp818Asn)	CCP110 (D818N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717405	NM_001323572.2(CCP110):c.2535A>G (p.Arg845=)	CCP110	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2228378	NM_001323572.2(CCP110):c.2653A>G (p.Ile885Val)	CCP110 (I885V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140041	NM_001323572.2(CCP110):c.2662C>A (p.His888Asn)	CCP110 (H888N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264622	NM_001323572.2(CCP110):c.2678G>A (p.Arg893His)	CCP110 (R893H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298380	NM_001323572.2(CCP110):c.2691G>C (p.Met897Ile)	CCP110 (M897I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553483	NM_001323572.2(CCP110):c.2701A>C (p.Met901Leu)	CCP110 (M901L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237682	NM_001323572.2(CCP110):c.2725G>A (p.Val909Met)	CCP110 (V909M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493066	NM_001323572.2(CCP110):c.2795T>C (p.Met932Thr)	CCP110 (M932T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337184	NM_001323572.2(CCP110):c.2807A>C (p.Lys936Thr)	CCP110 (K936T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264627	NM_001323572.2(CCP110):c.2863C>G (p.Gln955Glu)	CCP110 (Q955E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140042	NM_001323572.2(CCP110):c.2882G>A (p.Arg961Lys)	CCP110 (R961K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486464	NM_001323572.2(CCP110):c.2891G>A (p.Ser964Asn)	CCP110 (S964N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509290	NM_001323572.2(CCP110):c.2900+526G>T	CCP110 (V976F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140044	NM_001323572.2(CCP110):c.2931G>A (p.Ala977=)	CCP110 (R1006Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325426	NM_001323572.2(CCP110):c.2943C>A (p.Cys981Ter)	CCP110 (C961* +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684798	GRCh37/hg19 16p12.3(chr16:19046826-19831178)x3	CCP110, CLEC19A +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221512	GRCh37/hg19 16p12.3(chr16:19083339-19586433)x4	CCP110, CLEC19A +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 82