ClinVar for Gene (Select 5905) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312721	NM_002883.4(RANGAP1):c.41C>T (p.Ala14Val)	RANGAP1 (A14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312720	NM_002883.4(RANGAP1):c.1319T>A (p.Phe440Tyr)	RANGAP1 (F440Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312719	NM_002883.4(RANGAP1):c.704A>G (p.Asn235Ser)	RANGAP1 (N235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3151480	NM_002883.4(RANGAP1):c.882G>C (p.Lys294Asn)	RANGAP1 (K294N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151479	NM_002883.4(RANGAP1):c.692C>G (p.Ala231Gly)	RANGAP1 (A231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151478	NM_002883.4(RANGAP1):c.675C>G (p.Ile225Met)	RANGAP1 (I225M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151477	NM_002883.4(RANGAP1):c.668C>T (p.Pro223Leu)	RANGAP1 (P223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151476	NM_002883.4(RANGAP1):c.646C>A (p.Pro216Thr)	RANGAP1 (P216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151475	NM_002883.4(RANGAP1):c.367G>A (p.Ala123Thr)	RANGAP1 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151474	NM_002883.4(RANGAP1):c.242G>A (p.Arg81His)	RANGAP1 (R81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151473	NM_002883.4(RANGAP1):c.233A>G (p.Glu78Gly)	RANGAP1 (E78G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151472	NM_002883.4(RANGAP1):c.187G>A (p.Val63Met)	RANGAP1 (V63M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151471	NM_002883.4(RANGAP1):c.1729C>T (p.Arg577Cys)	RANGAP1 (R577C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151470	NM_002883.4(RANGAP1):c.1595T>C (p.Ile532Thr)	RANGAP1 (I532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151469	NM_002883.4(RANGAP1):c.1552G>A (p.Val518Met)	RANGAP1 (V518M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151468	NM_002883.4(RANGAP1):c.1180G>A (p.Glu394Lys)	RANGAP1 (E394K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151467	NM_002883.4(RANGAP1):c.1108G>A (p.Glu370Lys)	RANGAP1 (E370K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3068436	Single allele	LOC130067533, LOC130067534 +3 more	Deletion	Nephronophthisis-like nephropathy 1	GPathogenic
Select item 3062461	GRCh37/hg19 22q13.2(chr22:41430641-41815625)x1	CHADL, EP300 +5 more	Copy number loss	not specified	GPathogenic
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2664506	GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	ACO2, ADSL +25 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 2595925	NM_002883.4(RANGAP1):c.1220C>T (p.Ser407Leu)	RANGAP1 (S407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594888	NM_002883.4(RANGAP1):c.872G>C (p.Gly291Ala)	RANGAP1 (G291A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521965	NM_002883.4(RANGAP1):c.956A>G (p.Asp319Gly)	RANGAP1 (D319G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513301	NM_002883.4(RANGAP1):c.1621G>A (p.Ala541Thr)	RANGAP1 (A541T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511120	NM_002883.4(RANGAP1):c.1445A>G (p.Asp482Gly)	RANGAP1 (D482G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491150	NM_002883.4(RANGAP1):c.1687G>A (p.Val563Met)	RANGAP1 (V563M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2485598	NM_002883.4(RANGAP1):c.193G>A (p.Ala65Thr)	RANGAP1 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467905	NM_002883.4(RANGAP1):c.1622C>T (p.Ala541Val)	RANGAP1 (A541V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457550	NM_002883.4(RANGAP1):c.1003G>A (p.Glu335Lys)	RANGAP1 (E335K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457545	NM_002883.4(RANGAP1):c.1162G>A (p.Glu388Lys)	RANGAP1 (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2268810	NM_002883.4(RANGAP1):c.58G>A (p.Gly20Arg)	RANGAP1 (G20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266757	NM_002883.4(RANGAP1):c.1092G>C (p.Glu364Asp)	RANGAP1 (E364D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266408	NM_002883.4(RANGAP1):c.955G>A (p.Asp319Asn)	RANGAP1 (D319N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251815	NM_002883.4(RANGAP1):c.1226C>T (p.Thr409Met)	RANGAP1 (T409M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250511	NM_002883.4(RANGAP1):c.850A>G (p.Ile284Val)	RANGAP1 (I284V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250156	NM_002883.4(RANGAP1):c.397G>A (p.Glu133Lys)	RANGAP1 (E133K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234816	NM_002883.4(RANGAP1):c.254G>A (p.Ser85Asn)	RANGAP1 (S85N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217710	NM_002883.4(RANGAP1):c.1634T>C (p.Met545Thr)	RANGAP1 (M545T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215327	NM_002883.4(RANGAP1):c.322A>G (p.Ile108Val)	RANGAP1 (I108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1301608	NM_002883.4(RANGAP1):c.-39+1092G>A	RANGAP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 780659	NM_002883.4(RANGAP1):c.1201C>G (p.Arg401Gly)	RANGAP1 (R401G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770819	NM_002883.4(RANGAP1):c.933G>A (p.Leu311=)	RANGAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 686197	GRCh37/hg19 22q13.2(chr22:41590999-41759326)x1	CHADL, L3MBTL2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	LOC130067562, LOC130067566 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 471411	NC_000022.10:g.(?_41264983)_(41729217_?)dup	RANGAP1, RBX1 +27 more	Duplication	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 441667	GRCh37/hg19 22q13.2(chr22:41568382-41673592)x3	CHADL, EP300 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 146660	GRCh38/hg38 22q13.2(chr22:41251925-41281290)x3	RANGAP1, MIR6889	Copy number gain	See cases	GBenign
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145112	GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3	CHADL, DNAJB7 +32 more	Copy number gain	See cases	GUncertain significance
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57233	GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3	CHADL, DNAJB7 +28 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 72