HNRNPC[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150080	GRCh38/hg38 14q11.2(chr14:21038933-21428431)x3	ARHGEF40, CHD8 +22 more	Copy number gain	See cases	GUncertain significance
Select item 58305	GRCh38/hg38 14q11.2(chr14:21058251-21384204)x3	ARHGEF40, HNRNPC +17 more	Copy number gain	See cases	GUncertain significance
Select item 973074	NM_004500.4(HNRNPC):c.850_876del (p.Arg284_Asp292del)	HNRNPC	Deletion (inframe deletion)	Intellectual developmental disorder, autosomal dominant 74	GPathogenic
Select item 3106390	NM_004500.4(HNRNPC):c.785G>C (p.Arg262Pro)	HNRNPC (R275P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691760	NM_004500.4(HNRNPC):c.754del (p.Asp252fs)	HNRNPC (D252fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal dominant 74	GPathogenic
Select item 2617485	NM_004500.4(HNRNPC):c.728G>C (p.Gly243Ala)	HNRNPC (G243A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482092	NM_004500.4(HNRNPC):c.724G>C (p.Gly242Arg)	HNRNPC (G242R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470231	NM_004500.4(HNRNPC):c.680G>T (p.Ser227Ile)	HNRNPC (S227I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234506	NM_004500.4(HNRNPC):c.634G>A (p.Ala212Thr)	HNRNPC (A212T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462711	NM_004500.4(HNRNPC):c.626G>A (p.Ser209Asn)	HNRNPC (S209N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106389	NM_004500.4(HNRNPC):c.535G>A (p.Asp179Asn)	HNRNPC (D192N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263379	NM_004500.4(HNRNPC):c.434G>A (p.Arg145His)	HNRNPC (R158H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 57748	GRCh38/hg38 14q11.2(chr14:21224511-21455608)x1	CHD8, HNRNPC +8 more	Copy number loss	See cases	GPathogenic
Select item 3238819	NM_004500.4(HNRNPC):c.318-16G>A	HNRNPC	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal dominant 74	GUncertain significance
Select item 3350023	NM_004500.4(HNRNPC):c.294A>T (p.Lys98Asn)	HNRNPC (K98N)	Single nucleotide variant (missense variant)	HNRNPC-related condition	GUncertain significance
Select item 3284552	NM_004500.4(HNRNPC):c.113C>T (p.Ser38Leu)	HNRNPC (S38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533549	NM_004500.4(HNRNPC):c.65A>G (p.Asn22Ser)	HNRNPC (N22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577602	NM_004500.4(HNRNPC):c.20A>G (p.Asn7Ser)	HNRNPC (N7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244075	NC_000014.8:g.(?_21682087)_(21870618_?)del	CHD8, HNRNPC +2 more	Deletion	not provided	GPathogenic
Select item 3244073	NC_000014.8:g.(?_21671278)_(21866131_?)dup	CHD8, HNRNPC +2 more	Duplication	not provided	GUncertain significance
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2426543	NC_000014.8:g.(?_21671278)_(22005055_?)dup	CHD8, HNRNPC +6 more	Duplication	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	METTL3, ANG +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 1809420	GRCh37/hg19 14q11.2(chr14:21496133-21962265)x3	ARHGEF40, CHD8 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527802	GRCh37/hg19 14q11.2(chr14:21451544-21962317)	ARHGEF40, CHD8 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815632	GRCh37/hg19 14q11.2(chr14:21725624-22003017)x1	HNRNPC, RAB2B +6 more	Copy number loss	not provided	GPathogenic
Select item 815631	GRCh37/hg19 14q11.2(chr14:21589998-21999445)x1	CHD8, SALL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 815630	GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4	TOX4, ARHGEF40 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 689314	GRCh37/hg19 14q11.2(chr14:21678344-22299981)x3	CHD8, HNRNPC +10 more	Copy number gain	not provided	GUncertain significance
Select item 689180	GRCh37/hg19 14q11.2(chr14:21490055-21962265)x3	ARHGEF40, CHD8 +13 more	Copy number gain	not provided	GUncertain significance
Select item 688451	GRCh37/hg19 14q11.2(chr14:21721865-21795999)x3	HNRNPC, RPGRIP1	Copy number gain	not provided	GUncertain significance
Select item 685000	GRCh37/hg19 14q11.2(chr14:21697940-21763559)x3	HNRNPC, RPGRIP1	Copy number gain	not provided	GUncertain significance
Select item 684983	GRCh37/hg19 14q11.2(chr14:21610687-21897616)x3	CHD8, HNRNPC +3 more	Copy number gain	not provided	GUncertain significance
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564121	GRCh37/hg19 14q11.2(chr14:21417035-21962317)x3	SUPT16H, TMEM253 +16 more	Copy number gain	not provided	GUncertain significance
Select item 564103	GRCh37/hg19 14q11.2(chr14:21678415-21919003)x3	SUPT16H, RPGRIP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564099	GRCh37/hg19 14q11.2(chr14:21667756-21855346)x3	CHD8, HNRNPC +2 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253921	GRCh37/hg19 14q11.2(chr14:21520503-21878421)x3	CHD8, ARHGEF40 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 3360515	NM_004500.4(HNRNPC):c.812A>G (p.Lys271Arg)	HNRNPC (K271R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 66