ClinVar for MedGen (Select 324840) - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3336671	NM_001270974.2(HYDIN):c.12721C>T (p.Gln4241Ter)	HYDIN (Q4241*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3254672	NM_001270974.2(HYDIN):c.5855G>A (p.Arg1952Gln)	HYDIN (R1952Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GLikely benign
Select item 3250439	NM_001270974.2(HYDIN):c.8380A>G (p.Ile2794Val)	HYDIN (I2794V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3242167	NM_001270974.2(HYDIN):c.6358C>T (p.Arg2120Ter)	HYDIN (R2120*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
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 3027494	NM_001270974.2(HYDIN):c.3252dup (p.Val1085fs)	HYDIN (V1085fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027493	NM_001270974.2(HYDIN):c.14157T>G (p.Tyr4719Ter)	HYDIN (Y4719*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027492	NM_001270974.2(HYDIN):c.10886_10902del (p.Asp3629fs)	HYDIN (D3629fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027491	NM_001270974.2(HYDIN):c.3640A>G (p.Ile1214Val)	HYDIN (I1214V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3027490	NM_001270974.2(HYDIN):c.1949G>A (p.Arg650His)	HYDIN (R650H +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3027489	NM_001270974.2(HYDIN):c.6669+1G>A	HYDIN	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027488	NM_001270974.2(HYDIN):c.1529del (p.Phe510fs)	HYDIN (F510fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027487	NM_001270974.2(HYDIN):c.13709del (p.Pro4570fs)	HYDIN (P4570fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027486	NM_001270974.2(HYDIN):c.7214_7215del (p.Ser2405fs)	HYDIN (S2405fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027485	NM_001270974.2(HYDIN):c.2702G>T (p.Gly901Val)	HYDIN (G901V +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3027484	NM_001270974.2(HYDIN):c.12144dup (p.Thr4049fs)	HYDIN (T4049fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027483	NM_001270974.2(HYDIN):c.4888A>T (p.Lys1630Ter)	HYDIN (K1630*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027482	NM_001270974.2(HYDIN):c.1147C>T (p.Arg383Ter)	HYDIN (R383* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027481	NM_001270974.2(HYDIN):c.8487_8489delinsCA (p.Pro2830fs)	HYDIN (P2830fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027480	NM_001270974.2(HYDIN):c.2376+752_2529+9004del	HYDIN	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027479	NM_001270974.2(HYDIN):c.1095del (p.Phe365fs)	HYDIN (F365fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027478	NM_001270974.2(HYDIN):c.5789-39A>G	HYDIN	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3027477	NM_001270974.2(HYDIN):c.5620-311_5788+1198del	HYDIN	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027476	NM_001270974.2(HYDIN):c.2419_2422del (p.Val807fs)	HYDIN (V807fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027475	NM_001270974.2(HYDIN):c.13680-3A>G	HYDIN	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3027474	NM_001270974.2(HYDIN):c.283C>T (p.Gln95Ter)	HYDIN (Q112* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027473	NM_001270974.2(HYDIN):c.10012G>T (p.Glu3338Ter)	HYDIN (E3338*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027472	NM_001270974.2(HYDIN):c.1670G>C (p.Arg557Thr)	HYDIN (R557T +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027471	NM_001270974.2(HYDIN):c.15037_15048delinsGATGATATA (p.Tyr5013_Pro5016delinsAspAspIle)	HYDIN	Indel (inframe_indel)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 2671703	NM_001270974.2(HYDIN):c.12076G>A (p.Ala4026Thr)	HYDIN (A4026T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2671702	NM_001270974.2(HYDIN):c.13603C>T (p.Pro4535Ser)	HYDIN (P4535S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2663956	NM_001270974.2(HYDIN):c.10441C>T (p.Arg3481Trp)	HYDIN (R3481W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2646795	NM_001270974.2(HYDIN):c.950G>A (p.Arg317Gln)	HYDIN (R317Q +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5 +1 more	GUncertain significance
Select item 2646732	NM_001270974.2(HYDIN):c.8791C>T (p.Arg2931Cys)	HYDIN (R2931C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5 +1 more	GUncertain significance
Select item 2584824	NM_001270974.2(HYDIN):c.13402-2A>G	HYDIN	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 2446882	NM_001270974.2(HYDIN):c.5152G>A (p.Val1718Met)	HYDIN (V1718M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2446881	NM_001270974.2(HYDIN):c.373A>T (p.Asn125Tyr)	HYDIN (N125Y +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 2442393	NM_001270974.2(HYDIN):c.12444-1G>A	HYDIN	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
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 2431690	NM_001270974.2(HYDIN):c.3829_3832del (p.Leu1277fs)	HYDIN (L1277fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 2207665	NM_001270974.2(HYDIN):c.10609C>G (p.Pro3537Ala)	HYDIN (P3537A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5 +1 more	GUncertain significance
Select item 1806491	NM_001270974.2(HYDIN):c.11712del (p.Gln3905fs)	HYDIN (Q3905fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 1803171	NM_001270974.2(HYDIN):c.8185G>A (p.Gly2729Arg)	HYDIN (G2729R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 1704396	NM_001270974.2(HYDIN):c.7370T>C (p.Phe2457Ser)	HYDIN (F2457S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 1698801	NM_001270974.2(HYDIN):c.8093A>T (p.Lys2698Met)	HYDIN (K2698M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 1344890	NM_001270974.2(HYDIN):c.6344_6345dup (p.Ile2116fs)	HYDIN (I2116fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 1339086	NM_001270974.2(HYDIN):c.11695G>A (p.Val3899Met)	HYDIN (V3899M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 1332724	NM_001270974.2(HYDIN):c.8638_8658dup (p.Glu2880_Leu2886dup)	HYDIN	Duplication (inframe_insertion)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 1331715	NM_001270974.2(HYDIN):c.3187A>G (p.Lys1063Glu)	HYDIN (K1063E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 1331714	NM_001270974.2(HYDIN):c.6864C>A (p.His2288Gln)	HYDIN (H2288Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	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 1301600	NM_001270974.2(HYDIN):c.9249-13T>A	HYDIN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1301599	NM_001270974.2(HYDIN):c.7681_7683del (p.Glu2561del)	HYDIN (E2561del)	Deletion (inframe_deletion)	Primary ciliary dyskinesia 5	GBenign
Select item 1206104	NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys)	HYDIN (R3075C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1184350	NM_001270974.2(HYDIN):c.6557G>C (p.Gly2186Ala)	HYDIN (G2186A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031949	NM_001270974.2(HYDIN):c.9248+17C>G	HYDIN	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 5 +1 more	GUncertain significance
Select item 1031948	NM_001270974.2(HYDIN):c.7483G>A (p.Asp2495Asn)	HYDIN (D2495N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 1031947	NM_001270974.2(HYDIN):c.15092C>T (p.Ser5031Leu)	HYDIN (S5031L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 1031946	NM_001270974.2(HYDIN):c.14658+5G>A	HYDIN	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 5	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 1027858	NM_001270974.2(HYDIN):c.10247T>G (p.Val3416Gly)	HYDIN (V3416G)	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 870482	NM_001270974.2(HYDIN):c.2065dup (p.Ile689fs)	HYDIN (I689fs +2 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 869381	NM_001270974.2(HYDIN):c.12530del (p.Pro4177fs)	HYDIN (P4177fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GPathogenic
Select item 691975	NM_001270974.2(HYDIN):c.11047C>T (p.Arg3683Trp)	HYDIN (R3683W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 547951	NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln)	HYDIN (R44Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 545550	NM_001270974.2(HYDIN):c.7450C>T (p.Pro2484Ser)	HYDIN (P2484S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 545549	NM_001270974.2(HYDIN):c.12586A>G (p.Lys4196Glu)	HYDIN (K4196E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 445775	NM_001270974.2(HYDIN):c.14857C>T (p.Arg4953Trp)	HYDIN (R4953W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 402959	NM_001270974.2(HYDIN):c.-82A>T	HYDIN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 402956	NM_001270974.2(HYDIN):c.4475C>A (p.Pro1492His)	HYDIN (P1492H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 402955	NM_001270974.2(HYDIN):c.6917A>G (p.Glu2306Gly)	HYDIN (E2306G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 402954	NM_001270974.2(HYDIN):c.7364C>A (p.Pro2455Gln)	HYDIN (P2455Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 65472	NM_001270974.2(HYDIN):c.3786-1G>T	HYDIN	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 5	GPathogenic
Select item 39699	NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter)	HYDIN (K308* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GPathogenic
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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Items: 88