Related gene-specific medical variations for Gene (Select 10525) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340103	Single allele	HYOU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987498	NM_006389.5(HYOU1):c.1123-4G>A	HYOU1, LOC130006884	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977822	NM_006389.5(HYOU1):c.1313G>A (p.Arg438Gln)	HYOU1, LOC130006884 (R438Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969555	NM_006389.5(HYOU1):c.1308C>T (p.Val436=)	HYOU1, LOC130006884	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892236	NM_006389.5(HYOU1):c.1283A>G (p.Lys428Arg)	HYOU1, LOC130006884 (K428R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877983	NM_006389.5(HYOU1):c.1275G>A (p.Ala425=)	HYOU1, LOC130006884	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833321	NM_006389.5(HYOU1):c.1190T>G (p.Leu397Arg)	HYOU1, LOC130006884 (L397R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784628	NM_006389.5(HYOU1):c.1147G>A (p.Val383Met)	HYOU1, LOC130006884 (V383M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759260	NM_006389.5(HYOU1):c.1206-37_1206-15dup	HYOU1, LOC130006884	Duplication (intron variant)	not provided	GUncertain significance
Select item 2634887	NM_006389.5(HYOU1):c.1247C>T (p.Ala416Val)	HYOU1, LOC130006884 (A416V)	Single nucleotide variant (missense variant)	HYOU1-related disorder	GUncertain significance
Select item 2431502	NM_006389.5(HYOU1):c.1309G>A (p.Val437Ile)	HYOU1, LOC130006884 (V437I)	Single nucleotide variant (missense variant)	Granulocytopenia with immunoglobulin abnormality +1 more	GUncertain significance
Select item 2408040	NM_006389.5(HYOU1):c.1309G>C (p.Val437Leu)	HYOU1, LOC130006884 (V437L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242426	NM_006389.5(HYOU1):c.1286C>G (p.Ala429Gly)	HYOU1, LOC130006884 (A429G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2132160	NM_006389.5(HYOU1):c.1185G>A (p.Val395=)	HYOU1, LOC130006884	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2107851	NM_006389.5(HYOU1):c.1221G>A (p.Lys407=)	HYOU1, LOC130006884	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2091787	NM_006389.5(HYOU1):c.1176T>A (p.Val392=)	LOC130006884, HYOU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066587	NM_006389.5(HYOU1):c.1205+7G>A	HYOU1, LOC130006884	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052637	NM_006389.5(HYOU1):c.1236T>G (p.Asp412Glu)	HYOU1, LOC130006884 (D412E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044035	NM_006389.5(HYOU1):c.1246G>A (p.Ala416Thr)	HYOU1, LOC130006884 (A416T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028364	NM_006389.5(HYOU1):c.1336C>T (p.Leu446=)	HYOU1, LOC130006884	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2020789	NM_006389.5(HYOU1):c.1205+4A>C	HYOU1, LOC130006884	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1993653	NM_006389.5(HYOU1):c.1206-20G>A	HYOU1, LOC130006884	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1975083	NM_006389.5(HYOU1):c.1285G>T (p.Ala429Ser)	HYOU1, LOC130006884 (A429S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939025	NM_006389.5(HYOU1):c.1338+10C>A	HYOU1, LOC130006884	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923841	NM_006389.5(HYOU1):c.1181A>C (p.Glu394Ala)	HYOU1, LOC130006884 (E394A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922155	NM_006389.5(HYOU1):c.1176T>G (p.Val392=)	HYOU1, LOC130006884	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919703	NM_006389.5(HYOU1):c.1274C>T (p.Ala425Val)	HYOU1, LOC130006884 (A425V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1913044	NM_006389.5(HYOU1):c.1206-13G>T	HYOU1, LOC130006884	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1667283	NM_006389.5(HYOU1):c.1242A>G (p.Ala414=)	HYOU1, LOC130006884	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1657740	NM_006389.5(HYOU1):c.1205+20C>T	HYOU1, LOC130006884	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633642	NM_006389.5(HYOU1):c.1205+16dup	HYOU1, LOC130006884	Duplication (intron variant)	not provided	GLikely benign
Select item 1603282	NM_006389.5(HYOU1):c.1205+8_1205+9del	HYOU1, LOC130006884	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1529684	NM_006389.5(HYOU1):c.1338+7G>C	HYOU1, LOC130006884	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1523557	NM_006389.5(HYOU1):c.1276C>G (p.Leu426Val)	HYOU1, LOC130006884 (L426V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512490	NM_006389.5(HYOU1):c.1198G>A (p.Val400Met)	HYOU1, LOC130006884 (V400M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502223	NM_006389.5(HYOU1):c.1123G>C (p.Asp375His)	HYOU1, LOC130006884 (D375H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448225	NM_006389.5(HYOU1):c.1231G>T (p.Ala411Ser)	HYOU1, LOC130006884 (A411S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168782	NM_006389.5(HYOU1):c.1193A>G (p.Lys398Arg)	HYOU1, LOC130006884 (K398R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 773015	NM_006389.5(HYOU1):c.1266G>A (p.Gln422=)	HYOU1, LOC130006884	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 636750	NM_006389.5(HYOU1):c.454A>G (p.Met152Val)	HYOU1 (M152V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599201	NM_006389.5(HYOU1):c.1255G>C (p.Ala419Pro)	LOC130006884, HYOU1 (A419P)	Single nucleotide variant (missense variant)	Granulocytopenia with immunoglobulin abnormality	GPathogenic

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Links from Gene

Items: 41