ClinVar for Gene (Select 3187) - ClinVar

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377121	NM_001257293.2(HNRNPH1):c.1216_1220del (p.Ser406fs)	HNRNPH1, LOC128966623 (S195fs +14 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GLikely pathogenic
Select item 3372654	NM_001257293.2(HNRNPH1):c.881G>A (p.Arg294Gln)	HNRNPH1, LOC128966623 (R157Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369879	NM_001257293.2(HNRNPH1):c.-31-12C>G	HNRNPH1, LOC128966623	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3369107	NM_001257293.2(HNRNPH1):c.-31-5T>G	HNRNPH1, LOC128966623	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3364023	NM_001257293.2(HNRNPH1):c.689G>C (p.Arg230Thr)	HNRNPH1, LOC128966623 (R153T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363829	NM_001257293.2(HNRNPH1):c.337G>A (p.Val113Ile)	HNRNPH1, LOC128966623 (V113I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363349	NM_001257293.2(HNRNPH1):c.1225G>A (p.Gly409Arg)	LOC128966623, HNRNPH1 (G198R +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360763	NM_001257293.2(HNRNPH1):c.352C>T (p.Leu118Phe)	HNRNPH1 (L118F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360585	NM_001257293.2(HNRNPH1):c.301G>A (p.Gly101Ser)	HNRNPH1 (G101S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359759	NM_001257293.2(HNRNPH1):c.731A>G (p.Asp244Gly)	HNRNPH1 (D138G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3346614	NM_001257293.2(HNRNPH1):c.226_227del (p.Glu76fs)	HNRNPH1, LOC128966623 (E76fs)	Microsatellite (frameshift variant +2 more)	HNRNPH1-related disorder	GUncertain significance
Select item 3343617	NM_001257293.2(HNRNPH1):c.592C>G (p.Pro198Ala)	HNRNPH1, LOC128966623 (P121A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3336615	NM_001257293.2(HNRNPH1):c.245_246del (p.Tyr82fs)	HNRNPH1, LOC128966623 (Y5fs +1 more)	Microsatellite (frameshift variant +2 more)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GPathogenic
Select item 3255500	NM_001257293.2(HNRNPH1):c.1060C>G (p.His354Asp)	HNRNPH1, LOC128966623 (H153D +6 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GUncertain significance
Select item 3106409	NM_001257293.2(HNRNPH1):c.1153G>C (p.Ala385Pro)	HNRNPH1, LOC128966623 (A308P +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3062874	GRCh37/hg19 5q35.3(chr5:178974997-179632637)x3	C5orf60, CANX +11 more	Copy number gain	not specified	GUncertain significance
Select item 3062850	GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 3039891	NM_001257293.2(HNRNPH1):c.898G>A (p.Ala300Thr)	HNRNPH1, LOC128966623 (A163T +6 more)	Single nucleotide variant (missense variant)	HNRNPH1-related disorder	GUncertain significance
Select item 2691631	NM_001257293.2(HNRNPH1):c.397+14_397+15delinsA	HNRNPH1, LOC128966623	Indel (intron variant)	not specified	GLikely benign
Select item 2684437	GRCh37/hg19 5q35.3(chr5:178991938-179400807)x3	C5orf60, CANX +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 2663288	NM_001257293.2(HNRNPH1):c.956T>A (p.Ile319Asn)	HNRNPH1, LOC128966623 (I118N +6 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2662361	NM_001257293.2(HNRNPH1):c.964G>C (p.Gly322Arg)	HNRNPH1, LOC128966623 (G121R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656133	NM_001257293.2(HNRNPH1):c.934C>T (p.Leu312Phe)	HNRNPH1, LOC128966623 (L111F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2624213	NM_001257293.2(HNRNPH1):c.851A>G (p.Gln284Arg)	HNRNPH1, LOC128966623 (Q178R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547427	NM_001257293.2(HNRNPH1):c.677C>T (p.Ala226Val)	HNRNPH1, LOC128966623 (A226V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515701	NM_001257293.2(HNRNPH1):c.1105G>A (p.Gly369Ser)	HNRNPH1, LOC128966623 (G317S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504619	NM_001257293.2(HNRNPH1):c.1117+19G>A	HNRNPH1, LOC128966623 (G273D +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GUncertain significance
Select item 2499365	NM_001257293.2(HNRNPH1):c.390C>G (p.Phe130Leu)	HNRNPH1, LOC128966623 (F130L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2446193	NM_001257293.2(HNRNPH1):c.1067A>G (p.Tyr356Cys)	HNRNPH1, LOC128966623 (Y155C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432514	NM_001257293.2(HNRNPH1):c.668G>T (p.Gly223Val)	HNRNPH1, LOC128966623 (G146V +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GUncertain significance
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2424787	NC_000005.9:g.(?_178413111)_(179263593_?)dup	ADAMTS2, CANX +11 more	Duplication	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 2386631	NM_001257293.2(HNRNPH1):c.773A>T (p.Asp258Val)	HNRNPH1, LOC128966623 (D206V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314771	NM_001257293.2(HNRNPH1):c.664A>G (p.Ile222Val)	HNRNPH1, LOC128966623 (I145V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277211	NM_001257293.2(HNRNPH1):c.43G>A (p.Val15Ile)	HNRNPH1, LOC128966623 (V15I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269166	NM_001257293.2(HNRNPH1):c.1126T>C (p.Tyr376His)	HNRNPH1, LOC128966623 (Y175H +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1809328	GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	ADAMTS2, C5orf60 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1809056	GRCh37/hg19 5q35.3(chr5:178947702-179645244)x3	C5orf60, CANX +11 more	Copy number gain	not provided	GUncertain significance
Select item 1722866	NM_001257293.2(HNRNPH1):c.697C>T (p.Arg233Cys)	HNRNPH1, LOC128966623 (R156C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1711742	NM_001257293.2(HNRNPH1):c.617G>A (p.Arg206Gln)	HNRNPH1, LOC128966623 (R206Q +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GPathogenic
Select item 1711741	NM_001257293.2(HNRNPH1):c.1240_1243dup (p.Gln415fs)	HNRNPH1, LOC128966623 (Q204fs +14 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GPathogenic
Select item 1711740	NM_001257293.2(HNRNPH1):c.618dup (p.Pro207fs)	HNRNPH1, LOC128966623 (P130fs +3 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	GPathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1700507	NM_001257293.2(HNRNPH1):c.184G>C (p.Glu62Gln)	HNRNPH1, LOC128966623 (E62Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1698292	NM_001257293.2(HNRNPH1):c.1271A>T (p.Tyr424Phe)	HNRNPH1, LOC128966623 (Y213F +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695879	NM_001257293.2(HNRNPH1):c.716G>T (p.Gly239Val)	HNRNPH1, LOC128966623 (G133V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1527209	GRCh37/hg19 5q35.3(chr5:178860745-179534363)	C5orf60, CANX +11 more	Copy number loss	not specified	GUncertain significance
Select item 1527207	GRCh37/hg19 5q35.3(chr5:177954576-180198875)	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 1313908	NM_001257293.2(HNRNPH1):c.61T>C (p.Ser21Pro)	HNRNPH1, LOC128966623 (S21P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1312558	NM_001257293.2(HNRNPH1):c.1336_1339del (p.Ser446fs)	HNRNPH1, LOC128966623 (S245fs +7 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1312366	NM_001257293.2(HNRNPH1):c.1299_1300+36del	HNRNPH1, LOC128966623	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1312340	NM_001257293.2(HNRNPH1):c.8T>G (p.Leu3Trp)	HNRNPH1, LOC128966623 (L3W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311132	NM_001257293.2(HNRNPH1):c.931C>A (p.Pro311Thr)	HNRNPH1, LOC128966623 (P110T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307829	NM_001257293.2(HNRNPH1):c.595C>T (p.Arg199Ter)	HNRNPH1, LOC128966623 (R147* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1183065	NM_001257293.2(HNRNPH1):c.931C>T (p.Pro311Ser)	HNRNPH1, LOC128966623 (P110S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1178581	NM_001257293.2(HNRNPH1):c.715+4C>T	HNRNPH1, LOC128966623	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1042381	NC_000005.9:g.(?_178699902)_(179263603_?)dup	ADAMTS2, CANX +8 more	Duplication	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 1023048	NC_000005.9:g.(?_178770758)_(179263603_?)dup	ADAMTS2, CANX +8 more	Duplication	Paget disease of bone 2, early-onset +1 more	GUncertain significance
Select item 985769	NM_001257293.2(HNRNPH1):c.616C>T (p.Arg206Trp)	HNRNPH1, LOC128966623 (R154W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 828178	NM_001257293.2(HNRNPH1):c.340C>T (p.Arg114Trp)	HNRNPH1, LOC128966623 (R62W +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked, syndromic, Bain type	GLikely pathogenic
Select item 814763	GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	ADAMTS2, BTNL3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 782819	NM_001257293.2(HNRNPH1):c.1230C>T (p.Gly410=)	HNRNPH1, LOC128966623	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768055	NM_001257293.2(HNRNPH1):c.591A>G (p.Pro197=)	HNRNPH1, LOC128966623	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768054	NM_001257293.2(HNRNPH1):c.1208-7_1208-3del	HNRNPH1, LOC128966623	Microsatellite (intron variant)	not provided	GBenign
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 685882	GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3	COL23A1, ADAMTS2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563135	GRCh37/hg19 5q35.3(chr5:179016558-179409873)x3	CANX, CBY3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 563134	GRCh37/hg19 5q35.3(chr5:178904345-179529124)x3	C5orf60, CANX +11 more	Copy number gain	not provided	GUncertain significance
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 563130	GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1	RUFY1, TMED9 +23 more	Copy number loss	not provided	GPathogenic
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442504	GRCh37/hg19 5q35.3(chr5:178410737-179061393)x3	ADAMTS2, GRM6 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic
Select item 155523	GRCh38/hg38 5q35.3(chr5:178983149-179627701)x3	ADAMTS2, GRM6 +20 more	Copy number gain	See cases	GLikely benign
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance

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Items: 95