Related gene-specific medical variations for Gene (Select 3187) - ClinVar

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Items: 51

	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 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 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 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 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 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 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 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 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 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

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Links from Gene

Items: 51