Related gene-specific medical variations for Gene (Select 54768) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382863	NM_001270974.2(HYDIN):c.10826A>G (p.Tyr3609Cys)	HYDIN (Y3609C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3382862	NM_001270974.2(HYDIN):c.1447-5T>A	HYDIN	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3382042	NM_001270974.2(HYDIN):c.13117_13123delinsT (p.Thr4373_Glu4375delinsTer)	HYDIN	Indel (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3362684	NM_001270974.2(HYDIN):c.4463A>G (p.Glu1488Gly)	HYDIN (E1488G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3361291	NM_001270974.2(HYDIN):c.3683T>G (p.Val1228Gly)	HYDIN (V1228G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361290	NM_001270974.2(HYDIN):c.11332C>A (p.Pro3778Thr)	HYDIN (P3778T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359407	NM_001270974.2(HYDIN):c.12196G>A (p.Glu4066Lys)	HYDIN (E4066K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068169	NM_001270974.2(HYDIN):c.7318del (p.Asp2440fs)	HYDIN (D2440fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3068046	NM_001270974.2(HYDIN):c.9418-2A>G	HYDIN	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3068031	NM_001270974.2(HYDIN):c.589C>T (p.Arg197Ter)	HYDIN (R197* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3067832	NM_001270974.2(HYDIN):c.487C>T (p.Arg163Ter)	HYDIN (R163* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3065773	NM_001270974.2(HYDIN):c.12270C>G (p.His4090Gln)	HYDIN (H4090Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3065240	NM_001270974.2(HYDIN):c.9774+1G>A	HYDIN	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3064778	NM_001270974.2(HYDIN):c.7561_7575del (p.Thr2521_Arg2525del)	HYDIN	Deletion (inframe_deletion)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3064711	NM_001270974.2(HYDIN):c.2051T>C (p.Val684Ala)	HYDIN (V684A +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3064683	NM_001270974.2(HYDIN):c.10319T>C (p.Met3440Thr)	HYDIN (M3440T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2646777	NM_001270974.2(HYDIN):c.4090C>T (p.Leu1364=)	HYDIN, LOC121587554	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646776	NM_001270974.2(HYDIN):c.4143G>A (p.Ala1381=)	HYDIN, LOC121587554	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2581926	NM_001270974.2(HYDIN):c.1682T>C (p.Ile561Thr)	HYDIN, LOC126862387 (I561T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441712	NM_001270974.2(HYDIN):c.3042+139A>G	HYDIN	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2278421	NM_001270974.2(HYDIN):c.1736T>C (p.Phe579Ser)	HYDIN, LOC126862387 (F579S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275891	NM_001270974.2(HYDIN):c.1717C>T (p.His573Tyr)	HYDIN, LOC126862387 (H573Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1324558	NM_001270974.2(HYDIN):c.9397C>T (p.Gln3133Ter)	HYDIN (Q3133*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 1323084	NM_001270974.2(HYDIN):c.3175C>T (p.Arg1059Ter)	HYDIN (R1059*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GPathogenic
Select item 1323082	NM_001270974.2(HYDIN):c.8008C>T (p.Gln2670Ter)	HYDIN (Q2670*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GPathogenic
Select item 1184404	NM_001270974.2(HYDIN):c.488G>A (p.Arg163Gln)	HYDIN (R163Q +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5 +1 more	GUncertain significance
Select item 1031945	NM_001270974.2(HYDIN):c.11638G>A (p.Asp3880Asn)	HYDIN (D3880N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 932110	NM_001270974.2(HYDIN):c.11304del (p.Lys3768fs)	HYDIN (K3768fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 870815	NM_001270974.2(HYDIN):c.14742C>G (p.Tyr4914Ter)	HYDIN (Y4914*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 808074	NM_001270974.2(HYDIN):c.6430A>G (p.Lys2144Glu)	HYDIN (K2144E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 564339	GRCh37/hg19 16q22.2(chr16:70983768-71201052)x1	HYDIN	Copy number loss	not provided	GUncertain significance
Select item 394823	GRCh37/hg19 16q22.2(chr16:70866924-71177312)x1	HYDIN	Copy number loss	See cases	GLikely benign
Select item 100830	NM_001270974.2(HYDIN):c.6449T>G (p.Val2150Gly)	HYDIN (V2150G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 39698	NM_001270974.2(HYDIN):c.3985G>T (p.Val1329Leu)	HYDIN, LOC121587554 (V1329L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GPathogenic

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Links from Gene

Items: 34