Related gene-specific medical variations for Gene (Select 84316) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298280	NM_001320925.4(NAA38):c.81+72C>T	LOC112533665, NAA38 (A38V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270446	NM_144607.6(CYB5D1):c.566T>C (p.Phe189Ser)	CYB5D1, NAA38 (F189S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3270445	NM_144607.6(CYB5D1):c.197G>A (p.Gly66Asp)	CYB5D1, NAA38 (G66D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257019	NM_001330111.2(NAA38):c.-167+166G>A	CHD3, NAA38 (H65Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3171668	NM_001320925.4(NAA38):c.81+54G>A	LOC112533665, NAA38 (R32K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171665	NM_001320925.4(NAA38):c.81+48G>A	LOC112533665, NAA38 (R30K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171643	NM_001320925.4(NAA38):c.56G>C (p.Arg19Pro)	LOC112533665, NAA38 (G6R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171637	NM_001320925.4(NAA38):c.82-91G>T	LOC112533665, NAA38 (L45F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144127	NM_001005271.3(CHD3):c.66A>C (p.Glu22Asp)	CHD3, NAA38 (E22D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144107	NM_001005271.3(CHD3):c.127G>T (p.Asp43Tyr)	CHD3, NAA38 (D43Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144105	NM_001005271.3(CHD3):c.121G>C (p.Glu41Gln)	CHD3, NAA38 (E41Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3079266	NM_144607.6(CYB5D1):c.91C>T (p.Pro31Ser)	CYB5D1, NAA38 (P31S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079265	NM_144607.6(CYB5D1):c.561G>A (p.Met187Ile)	CYB5D1, NAA38 (M187I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3079264	NM_144607.6(CYB5D1):c.416G>A (p.Arg139His)	CYB5D1, NAA38 (R139H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079263	NM_144607.6(CYB5D1):c.348T>G (p.Phe116Leu)	CYB5D1, NAA38 (F116L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079262	NM_144607.6(CYB5D1):c.11G>A (p.Arg4Gln)	CYB5D1, NAA38 (R4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2688772	NM_001005271.3(CHD3):c.250C>A (p.Pro84Thr)	CHD3, NAA38 (P84T)	Single nucleotide variant (missense variant +1 more)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2647420	NM_001330111.2(NAA38):c.-167+119CGG[4]	CHD3, NAA38	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2647419	NM_001330111.2(NAA38):c.-167+154C>T	CHD3, NAA38 (G69S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647418	NM_001330111.2(NAA38):c.-167+254CTC[5]	CHD3, NAA38 (E35del)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 2614406	NM_144607.6(CYB5D1):c.208A>G (p.Ser70Gly)	CYB5D1, NAA38 (S70G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603528	NM_144607.6(CYB5D1):c.526T>C (p.Tyr176His)	CYB5D1, NAA38 (L153P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580031	NM_001005271.3(CHD3):c.139G>T (p.Asp47Tyr)	CHD3, NAA38 (D47Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576817	NM_001005271.3(CHD3):c.243_251del (p.Leu83_Pro85del)	CHD3, NAA38	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2557853	NM_144607.6(CYB5D1):c.670G>C (p.Asp224His)	CYB5D1, NAA38 (D224H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2542841	NM_001005271.3(CHD3):c.31G>A (p.Glu11Lys)	CHD3, NAA38 (E11K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514870	NM_144607.6(CYB5D1):c.614A>G (p.Tyr205Cys)	CYB5D1, NAA38 (Y205C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2512795	NM_144607.6(CYB5D1):c.562G>C (p.Asp188His)	CYB5D1, NAA38 (D188H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2505752	NM_001330111.2(NAA38):c.-167+273_-167+275del	CHD3, NAA38 (D29del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2504887	NM_001005271.3(CHD3):c.176A>G (p.Asp59Gly)	CHD3, NAA38 (D59G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2489697	NM_144607.6(CYB5D1):c.7C>T (p.Arg3Cys)	CYB5D1, NAA38 (R3C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455944	NM_001320925.4(NAA38):c.63G>C (p.Gln21His)	LOC112533665, NAA38 (R8T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387999	NM_001330111.2(NAA38):c.-167+107_-167+130del	CHD3, NAA38	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349820	NM_144607.6(CYB5D1):c.604G>C (p.Glu202Gln)	CYB5D1, NAA38 (E202Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2348919	NM_001330111.2(NAA38):c.-167+96_-167+110del	CHD3, NAA38	Deletion (inframe_deletion +1 more)	not provided +1 more	GLikely benign
Select item 2343495	NM_001330111.2(NAA38):c.-167+119CGG[6]	CHD3, NAA38 (P82del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2340575	NM_144607.6(CYB5D1):c.342C>G (p.Asn114Lys)	CYB5D1, NAA38 (N114K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336466	NM_144607.6(CYB5D1):c.65C>G (p.Pro22Arg)	CYB5D1, NAA38 (P22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314230	NM_001320925.4(NAA38):c.81+55G>T	LOC112533665, NAA38 (R32S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280630	NM_001320925.4(NAA38):c.82-89G>C	LOC112533665, NAA38 (C46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273414	NM_144607.6(CYB5D1):c.233G>A (p.Arg78Lys)	CYB5D1, NAA38 (R78K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2266876	NM_001005271.3(CHD3):c.199C>T (p.Pro67Ser)	CHD3, NAA38 (P67S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264294	NM_001005271.3(CHD3):c.265C>T (p.Pro89Ser)	CHD3, NAA38 (P89S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242481	NM_144607.6(CYB5D1):c.506A>G (p.Tyr169Cys)	CYB5D1, NAA38 (Y169C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218487	NM_144607.6(CYB5D1):c.493C>T (p.Arg165Cys)	CYB5D1, NAA38 (R165C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1698498	NM_001330111.2(NAA38):c.-167+106_-167+107insT	CHD3, NAA38 (P85fs)	Insertion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1679699	NM_001005271.3(CHD3):c.250C>T (p.Pro84Ser)	CHD3, NAA38 (P84S)	Single nucleotide variant (missense variant +1 more)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 1319381	NM_001330111.2(NAA38):c.-167+172C>G	CHD3, NAA38 (D63H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313043	NM_001005271.3(CHD3):c.136G>A (p.Asp46Asn)	CHD3, NAA38 (D46N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1307452	NM_001005271.3(CHD3):c.88G>A (p.Glu30Lys)	CHD3, NAA38 (E30K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1298691	NM_001330111.2(NAA38):c.-167+111_-167+122del	CHD3, NAA38	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1233832	NM_001005271.3(CHD3):c.277+8C>G	CHD3, NAA38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210084	NM_001330111.2(NAA38):c.-167+119CGG[8]	NAA38, CHD3	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 1049451	NM_001005271.3(CHD3):c.251C>T (p.Pro84Leu)	CHD3, NAA38 (P84L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 932352	NM_001330111.2(NAA38):c.-167+289C>T	CHD3, NAA38 (E24K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 932351	NM_001330111.2(NAA38):c.-167+317C>T	CHD3, NAA38	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 871294	NM_001330111.2(NAA38):c.-167+144A>C	CHD3, NAA38 (L72R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 808218	NM_001320925.4(NAA38):c.82-58G>A	LOC112533665, NAA38 (W56*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 771021	NM_001005271.3(CHD3):c.243_245dup (p.Pro82_Leu83insPro)	CHD3, NAA38	Duplication (inframe_insertion +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 769908	NM_001005271.3(CHD3):c.267_275dup (p.Pro92_Asp93insProProPro)	CHD3, NAA38	Duplication (inframe_insertion +1 more)	not provided	GBenign

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Links from Gene

Items: 60