RNPC3[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 152864	GRCh38/hg38 1p21.1(chr1:102983807-105059200)x1	AMY1A, AMY1B +12 more	Copy number loss	See cases	GUncertain significance
Select item 151709	GRCh38/hg38 1p21.1(chr1:103082841-103618409)x3	AMY2A, AMY2B +6 more	Copy number gain	See cases	GUncertain significance
Select item 145537	GRCh38/hg38 1p21.1(chr1:103108301-103564967)x3	AMY2B, COL11A1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 146629	GRCh38/hg38 1p21.1(chr1:103280931-103754679)x1	AMY1A, AMY1B +8 more	Copy number loss	See cases	GBenign
Select item 154942	GRCh38/hg38 1p21.1(chr1:103462283-103612668)x3	AMY2B, LOC129931061 +3 more	Copy number gain	See cases	GLikely benign
Select item 150693	GRCh38/hg38 1p21.1-13.3(chr1:103474348-106724941)x1	AMY1A, AMY1B +15 more	Copy number loss	See cases	GUncertain significance
Select item 736099	NM_017619.4(RNPC3):c.24T>G (p.Leu8=)	LOC129931062, RNPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3314962	NM_017619.4(RNPC3):c.146A>G (p.Tyr49Cys)	RNPC3 (Y49C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 560267	NM_017619.4(RNPC3):c.177del (p.Asp60fs)	RNPC3 (D60fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3033977	NM_017619.4(RNPC3):c.180T>A (p.Asp60Glu)	RNPC3 (D60E)	Single nucleotide variant (missense variant)	RNPC3-related disorder	GBenign
Select item 745567	NM_017619.4(RNPC3):c.186G>T (p.Gly62=)	RNPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1320000	NM_017619.4(RNPC3):c.261dup (p.Leu88fs)	RNPC3 (L88fs)	Duplication (frameshift variant)	Isolated growth hormone deficiency, type 5	GPathogenic
Select item 1319998	NM_017619.4(RNPC3):c.259C>T (p.Gln87Ter)	RNPC3 (Q87*)	Single nucleotide variant (nonsense)	Isolated growth hormone deficiency, type 5	GPathogenic
Select item 2533069	NM_017619.4(RNPC3):c.328T>C (p.Cys110Arg)	RNPC3 (C110R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327962	NM_017619.4(RNPC3):c.342C>T (p.Gly114=)	RNPC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2298354	NM_017619.4(RNPC3):c.358A>G (p.Arg120Gly)	RNPC3 (R120G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327963	NM_017619.4(RNPC3):c.359+16A>G	RNPC3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2393811	NM_017619.4(RNPC3):c.364G>A (p.Asp122Asn)	RNPC3 (D122N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1319999	NM_017619.4(RNPC3):c.443G>C (p.Gly148Ala)	RNPC3 (G148A)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 5	GPathogenic
Select item 3155523	NM_017619.4(RNPC3):c.548A>G (p.Tyr183Cys)	RNPC3 (Y183C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058769	NM_017619.4(RNPC3):c.556-7C>T	RNPC3	Single nucleotide variant (intron variant)	RNPC3-related disorder	GLikely benign
Select item 2638958	NM_017619.4(RNPC3):c.613C>A (p.Arg205=)	RNPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1064669	NM_017619.4(RNPC3):c.613C>T (p.Arg205Ter)	RNPC3 (R205*)	Single nucleotide variant (nonsense)	Decreased response to growth hormone stimulation test +1 more	GPathogenic
Select item 3155524	NM_017619.4(RNPC3):c.614G>A (p.Arg205Gln)	RNPC3 (R205Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345224	NM_017619.4(RNPC3):c.617C>T (p.Pro206Leu)	RNPC3 (P206L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064670	NM_017619.4(RNPC3):c.624+1G>T	RNPC3	Single nucleotide variant (splice donor variant)	Decreased response to growth hormone stimulation test	GPathogenic
Select item 2333852	NM_017619.4(RNPC3):c.625T>C (p.Tyr209His)	RNPC3 (Y209H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538071	NM_017619.4(RNPC3):c.641C>T (p.Pro214Leu)	RNPC3 (P214L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356599	NM_017619.4(RNPC3):c.653C>T (p.Pro218Leu)	RNPC3 (P218L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607143	NM_017619.4(RNPC3):c.691C>T (p.Pro231Ser)	RNPC3 (P231S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603318	NM_017619.4(RNPC3):c.703G>A (p.Glu235Lys)	RNPC3 (E235K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3314961	NM_017619.4(RNPC3):c.707A>T (p.Asp236Val)	RNPC3 (D236V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411938	NM_017619.4(RNPC3):c.719C>G (p.Ser240Cys)	RNPC3 (S240C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 752340	NM_017619.4(RNPC3):c.810A>G (p.Arg270=)	RNPC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2204224	NM_017619.4(RNPC3):c.818C>G (p.Thr273Arg)	RNPC3 (T273R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411284	NM_017619.4(RNPC3):c.829C>T (p.Arg277Cys)	RNPC3 (R277C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442236	NM_017619.4(RNPC3):c.859G>A (p.Asp287Asn)	RNPC3 (D287N)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 5	GUncertain significance
Select item 3062137	NM_017619.4(RNPC3):c.894-2A>G	RNPC3	Single nucleotide variant (splice acceptor variant)	Isolated growth hormone deficiency, type 5	GLikely pathogenic
Select item 2237058	NM_017619.4(RNPC3):c.916C>G (p.Pro306Ala)	RNPC3 (P306A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328679	NM_017619.4(RNPC3):c.935A>T (p.Gln312Leu)	RNPC3 (Q312L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603511	NM_017619.4(RNPC3):c.971A>T (p.His324Leu)	RNPC3 (H324L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045438	NM_017619.4(RNPC3):c.1024A>C (p.Asn342His)	RNPC3 (N342H)	Single nucleotide variant (missense variant)	RNPC3-related disorder	GLikely benign
Select item 2570729	NM_017619.4(RNPC3):c.1024_1025delinsCC (p.Asn342Pro)	RNPC3 (N342P)	Indel (missense variant)	not provided	GLikely benign
Select item 3044994	NM_017619.4(RNPC3):c.1025A>C (p.Asn342Thr)	RNPC3 (N342T)	Single nucleotide variant (missense variant)	RNPC3-related disorder	GLikely benign
Select item 2273386	NM_017619.4(RNPC3):c.1043A>G (p.His348Arg)	RNPC3 (H348R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730281	NM_017619.4(RNPC3):c.1046-7C>G	RNPC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3043016	NM_017619.4(RNPC3):c.1207+10C>T	RNPC3	Single nucleotide variant (intron variant)	RNPC3-related disorder	GLikely benign
Select item 1320001	NM_017619.4(RNPC3):c.1228T>G (p.Phe410Val)	RNPC3 (F410V)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 5	GPathogenic
Select item 2400457	NM_017619.4(RNPC3):c.1244C>T (p.Pro415Leu)	RNPC3 (P415L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3314960	NM_017619.4(RNPC3):c.1295A>G (p.Gln432Arg)	RNPC3 (Q432R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 147581	GRCh38/hg38 1p21.1(chr1:103549695-104099415)x1	AMY1A, AMY1B +4 more	Copy number loss	See cases	GBenign
Select item 2341293	NM_017619.4(RNPC3):c.1370T>C (p.Ile457Thr)	RNPC3 (I457T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361722	NM_017619.4(RNPC3):c.1376T>G (p.Leu459Trp)	RNPC3 (L459W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064671	NM_017619.4(RNPC3):c.1421del (p.Pro474fs)	RNPC3 (P474fs)	Deletion (frameshift variant)	Isolated growth hormone deficiency, type 5	GPathogenic
Select item 587367	NM_017619.4(RNPC3):c.1420C>A (p.Pro474Thr)	RNPC3 (P474T)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 5 +1 more	GPathogenic
Select item 3068053	NM_017619.4(RNPC3):c.1421C>T (p.Pro474Leu)	RNPC3 (P474L)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 5	GUncertain significance
Select item 1064672	NM_017619.4(RNPC3):c.1449A>T (p.Leu483Phe)	RNPC3 (L483F)	Single nucleotide variant (missense variant)	Isolated growth hormone deficiency, type 5	GPathogenic
Select item 3053646	NM_017619.4(RNPC3):c.1467T>C (p.Tyr489=)	RNPC3	Single nucleotide variant (synonymous variant)	RNPC3-related disorder	GLikely benign
Select item 2601944	NM_017619.4(RNPC3):c.1486A>C (p.Met496Leu)	RNPC3 (M496L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 587368	NM_017619.4(RNPC3):c.1504C>T (p.Arg502Ter)	RNPC3 (R502*)	Single nucleotide variant (nonsense)	Isolated growth hormone deficiency, type 5	GPathogenic
Select item 3247930	NC_000001.10:g.(?_103399985)_(104094402_?)dup	COL11A1, RNPC3	Duplication	not provided	GUncertain significance
Select item 3247919	NC_000001.10:g.(?_103399985)_(104094402_?)del	COL11A1, RNPC3	Deletion	not provided	GPathogenic
Select item 3247915	NC_000001.10:g.(?_103343575)_(104094402_?)del	COL11A1, RNPC3	Deletion	not provided	GPathogenic
Select item 3069120	NC_000001.10:g.(104086070_104087562)_(104097862_?)dup	AMY2B, RNPC3	Duplication	not specified	GBenign
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	not provided	GUncertain significance
Select item 1527226	GRCh37/hg19 1p21.1(chr1:103446619-105601238)	AMY1A, AMY1B +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1454694	NC_000001.10:g.(?_103449602)_(104094402_?)del	COL11A1, RNPC3	Deletion	not provided	GPathogenic
Select item 1341033	GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1	AGL, AMY1A +22 more	Copy number loss	not provided	GUncertain significance
Select item 1340799	GRCh37/hg19 1p21.1(chr1:103772743-104132185)x3	AMY2B, RNPC3	Copy number gain	not provided	GLikely benign
Select item 1174529	NC_000001.10:g.(103388956_103400026)_(104094395_?)del	COL11A1, RNPC3	Deletion	Stickler syndrome type 2 +2 more	GLikely pathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 992749	Single allele	AMY1B, AMY1C +10 more	Deletion	Seizure	GUncertain significance
Select item 988901	GRCh37/hg19 1p21.1(chr1:103446394-105602157)x1	AMY2A, AMY2B +5 more	Copy number loss	not provided	GUncertain significance
Select item 814115	GRCh37/hg19 1p21.1(chr1:104009895-106784499)x3	RNPC3, AMY1A +4 more	Copy number gain	not provided	GUncertain significance
Select item 814114	GRCh37/hg19 1p21.1(chr1:103767538-104132185)x3	RNPC3, AMY2B	Copy number gain	not provided	GLikely benign
Select item 814113	GRCh37/hg19 1p21.1(chr1:103532704-104132185)x3	COL11A1, AMY2B +1 more	Copy number gain	not provided	GPathogenic
Select item 814112	GRCh37/hg19 1p21.1(chr1:102684528-105691309)x3	COL11A1, AMY1B +5 more	Copy number gain	not provided	GUncertain significance
Select item 565134	GRCh37/hg19 1p21.1(chr1:103555105-104992515)x3	AMY2A, AMY2B +5 more	Copy number gain	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442684	GRCh37/hg19 1p21.1(chr1:103480265-105286199)x3	AMY1A, AMY1B +5 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441585	GRCh37/hg19 1p21.1(chr1:103446619-105601238)x1	AMY1A, AMY1B +5 more	Copy number loss	See cases	GUncertain significance

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Items: 89