HACL1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936094, LOC129936095 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	ACAA1, ACVR2B +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	ANKRD28, BALR6 +214 more	Copy number gain	See cases	GPathogenic
Select item 155336	GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3	ANKRD28, BTD +43 more	Copy number gain	See cases	GLikely benign
Select item 3038227	NM_012260.4(HACL1):c.*8C>T	HACL1	Single nucleotide variant (3 prime UTR variant +1 more)	HACL1-related condition	GLikely benign
Select item 2484479	NM_012260.4(HACL1):c.1733T>C (p.Met578Thr)	HACL1 (M551T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365299	NM_012260.4(HACL1):c.1694G>A (p.Arg565Gln)	HACL1 (R483Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2653598	NM_012260.4(HACL1):c.1614C>T (p.Leu538=)	HACL1	Single nucleotide variant (synonymous variant +1 more)	HACL1-related condition +1 more	GLikely benign
Select item 2513993	NM_012260.4(HACL1):c.1566G>A (p.Met522Ile)	HACL1 (M462I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2653599	NM_012260.4(HACL1):c.1512T>C (p.Thr504=)	HACL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2540010	NM_012260.4(HACL1):c.1344G>T (p.Trp448Cys)	HACL1 (W421C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3051661	NM_012260.4(HACL1):c.1341A>G (p.Gln447=)	HACL1	Single nucleotide variant (synonymous variant +1 more)	HACL1-related condition	GLikely benign
Select item 3055290	NM_012260.4(HACL1):c.1312G>T (p.Val438Leu)	HACL1 (V356L +3 more)	Single nucleotide variant (missense variant +1 more)	HACL1-related condition	GLikely benign
Select item 3033119	NM_012260.4(HACL1):c.1308T>G (p.Ala436=)	HACL1	Single nucleotide variant (synonymous variant +1 more)	HACL1-related condition	GLikely benign
Select item 2388898	NM_012260.4(HACL1):c.1274C>G (p.Thr425Arg)	HACL1 (T425R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335113	NM_012260.4(HACL1):c.1256A>G (p.Asp419Gly)	HACL1 (D392G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485305	NM_012260.4(HACL1):c.1249A>G (p.Arg417Gly)	HACL1 (R335G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600023	NM_012260.4(HACL1):c.1217G>A (p.Arg406Gln)	HACL1 (R346Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462495	NM_012260.4(HACL1):c.1180G>A (p.Val394Met)	HACL1 (V312M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329817	NM_012260.4(HACL1):c.1166C>T (p.Pro389Leu)	HACL1 (P329L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057081	NM_012260.4(HACL1):c.1119G>A (p.Leu373=)	HACL1	Single nucleotide variant (synonymous variant +1 more)	HACL1-related condition	GBenign
Select item 2256915	NM_012260.4(HACL1):c.1015A>G (p.Thr339Ala)	HACL1 (T257A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3055705	NM_012260.4(HACL1):c.994-4dup	HACL1	Duplication (intron variant)	HACL1-related condition	GBenign
Select item 780104	NM_012260.4(HACL1):c.952G>A (p.Ala318Thr)	HACL1 (A236T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2588198	NM_012260.4(HACL1):c.919T>C (p.Cys307Arg)	HACL1 (C281R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460287	NM_012260.4(HACL1):c.836T>C (p.Phe279Ser)	HACL1 (F197S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554974	NM_012260.4(HACL1):c.806C>A (p.Ala269Asp)	HACL1 (A187D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494190	NM_012260.4(HACL1):c.799T>C (p.Ser267Pro)	HACL1 (S241P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456695	NM_012260.4(HACL1):c.761T>A (p.Val254Asp)	HACL1 (V172D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305982	NM_012260.4(HACL1):c.719A>G (p.Tyr240Cys)	HACL1 (Y240C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3052625	NM_012260.4(HACL1):c.668-3T>C	HACL1	Single nucleotide variant (intron variant)	HACL1-related condition	GLikely benign
Select item 2468454	NM_012260.4(HACL1):c.632G>A (p.Arg211Lys)	HACL1 (R211K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 767887	NM_012260.4(HACL1):c.615G>A (p.Thr205=)	HACL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2469400	NM_012260.4(HACL1):c.588C>G (p.Ser196Arg)	HACL1 (S196R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315526	NM_012260.4(HACL1):c.564A>T (p.Glu188Asp)	HACL1 (E188D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285442	NM_012260.4(HACL1):c.510A>G (p.Ile170Met)	HACL1 (I143M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2455104	NM_012260.4(HACL1):c.479A>G (p.Tyr160Cys)	HACL1 (Y133C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2226080	NM_012260.4(HACL1):c.470G>A (p.Ser157Asn)	HACL1 (S130N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3056898	NM_012260.4(HACL1):c.451A>T (p.Ile151Phe)	HACL1 (I124F +1 more)	Single nucleotide variant (missense variant +2 more)	HACL1-related condition	GBenign
Select item 3058276	NM_012260.4(HACL1):c.382-6A>G	HACL1	Single nucleotide variant (intron variant)	HACL1-related condition	GLikely benign
Select item 3048891	NM_012260.4(HACL1):c.215A>T (p.Tyr72Phe)	HACL1 (Y72F)	Single nucleotide variant (missense variant +1 more)	HACL1-related condition	GLikely benign
Select item 2239891	NM_012260.4(HACL1):c.205G>A (p.Ala69Thr)	HACL1 (A69T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530060	NM_012260.4(HACL1):c.152G>A (p.Gly51Asp)	HACL1 (G51D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484822	NM_012260.4(HACL1):c.107T>A (p.Val36Glu)	HACL1 (V36E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467017	NM_012260.4(HACL1):c.52A>G (p.Lys18Glu)	BTD, HACL1 (K18E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2240435	NM_012260.4(HACL1):c.15C>G (p.Asn5Lys)	BTD, HACL1 (N5K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2395183	NM_012260.4(HACL1):c.12T>G (p.Ser4Arg)	BTD, HACL1 (S4R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2507522	NM_012260.4(HACL1):c.8A>G (p.Asp3Gly)	BTD, HACL1 (D3G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1266847	NM_012260.4(HACL1):c.-73T>C	BTD, HACL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062686	GRCh37/hg19 3p25.1(chr3:15501275-15607316)x1	COLQ, HACL1	Copy number loss	not specified	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2422279	NC_000003.11:g.(?_15512023)_(15687154_?)del	BTD, COLQ +1 more	Deletion	Biotinidase deficiency	GPathogenic
Select item 1808039	GRCh37/hg19 3p25.1(chr3:15511615-15612393)x1	COLQ, HACL1	Copy number loss	not provided	GUncertain significance
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340851	GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3	ANKRD28, BTD +13 more	Copy number gain	not provided	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	FANCD2OS, FBLN2 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	ANKRD28, ARL8B +145 more	Copy number gain	See cases	GPathogenic

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Items: 70