HSDL1[gene] - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	See cases	GPathogenic
Select item 144447	GRCh38/hg38 16q23.3-24.1(chr16:83399060-84908120)x1	ADAD2, ATP2C2 +93 more	Copy number loss	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 152236	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84276472)x3	ADAD2, CDH13 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150582	GRCh38/hg38 16q23.3-24.1(chr16:83763804-84558035)x1	ADAD2, ATP2C2 +55 more	Copy number loss	See cases	GUncertain significance
Select item 146470	GRCh38/hg38 16q23.3-24.1(chr16:83878992-84908120)x3	ADAD2, KCNG4 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 147259	GRCh38/hg38 16q23.3-24.1(chr16:84063406-84404889)x3	ADAD2, ATP2C2 +20 more	Copy number gain	See cases	GBenign
Select item 3284884	NM_031463.5(HSDL1):c.985A>C (p.Thr329Pro)	HSDL1 (T274P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107189	NM_031463.5(HSDL1):c.982T>C (p.Cys328Arg)	HSDL1 (C273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284883	NM_031463.5(HSDL1):c.956G>A (p.Arg319His)	HSDL1 (R264H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300625	NM_031463.5(HSDL1):c.943A>G (p.Asn315Asp)	HSDL1 (N260D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234756	NM_031463.5(HSDL1):c.871G>A (p.Gly291Arg)	HSDL1 (G291R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251635	NM_031463.5(HSDL1):c.826G>A (p.Ala276Thr)	HSDL1 (A221T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347370	NM_031463.5(HSDL1):c.727G>T (p.Val243Leu)	HSDL1 (V243L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494390	NM_031463.5(HSDL1):c.642G>C (p.Gln214His)	HSDL1 (Q159H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512181	NM_031463.5(HSDL1):c.588G>C (p.Lys196Asn)	HSDL1 (K196N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313977	NM_031463.5(HSDL1):c.541G>A (p.Ala181Thr)	HSDL1 (A126T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550712	NM_031463.5(HSDL1):c.536C>G (p.Ala179Gly)	HSDL1 (A179G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291033	NM_031463.5(HSDL1):c.533T>C (p.Ile178Thr)	HSDL1 (I178T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394814	NM_031463.5(HSDL1):c.502G>A (p.Asp168Asn)	HSDL1 (D168N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537448	NM_031463.5(HSDL1):c.499G>A (p.Glu167Lys)	HSDL1 (E112K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277367	NM_031463.5(HSDL1):c.295C>T (p.Arg99Trp)	HSDL1 (R99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385327	NM_031463.5(HSDL1):c.163C>T (p.Arg55Cys)	HSDL1 (R55C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311542	NM_031463.5(HSDL1):c.157A>G (p.Ile53Val)	HSDL1 (I53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284885	NM_031463.5(HSDL1):c.123C>G (p.Ile41Met)	HSDL1 (I41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107187	NM_031463.5(HSDL1):c.121A>G (p.Ile41Val)	HSDL1 (I41V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347008	NM_031463.5(HSDL1):c.98C>T (p.Thr33Met)	HSDL1 (T33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377204	NM_031463.5(HSDL1):c.54C>G (p.Cys18Trp)	HSDL1 (C18W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279566	NC_000016.10:g.84145042A>G	DNAAF1, HSDL1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283046	NC_000016.10:g.84145087C>G	DNAAF1, HSDL1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1301511	NC_000016.10:g.84145122G>C	DNAAF1, HSDL1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3063475	GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3	ADAD2, ATP2C2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3063461	GRCh37/hg19 16q23.3-24.1(chr16:84046622-84340916)x3	ADAD2, DNAAF1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063401	GRCh37/hg19 16q23.3-24.1(chr16:84009532-84245489)x1	ADAD2, DNAAF1 +6 more	Copy number loss	not specified	GPathogenic
Select item 2685583	GRCh37/hg19 16q23.3(chr16:84025593-84179382)x1	DNAAF1, HSDL1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2427571	NC_000016.9:g.(?_83932750)_(84211465_?)dup	DNAAF1, HSDL1 +6 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526538	GRCh37/hg19 16q23.3-24.1(chr16:84164522-84712751)	DNAAF1, HSDL1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526537	GRCh37/hg19 16q23.3-24.1(chr16:84134463-85705611)	HSDL1, ADAD2 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526536	GRCh37/hg19 16q23.3-24.1(chr16:84035055-84346054)	DNAAF1, HSDL1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1526534	GRCh37/hg19 16q23.3-24.1(chr16:83313106-84608026)	NECAB2, CDH13 +15 more	Copy number loss	not specified	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 1076225	NC_000016.9:g.(?_84005756)_(84164926_?)del	HSDL1, MBTPS1 +2 more	Deletion	not provided	GPathogenic
Select item 979481	GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3	CIBAR2, SLC38A8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 975044	Single allele	ADAD2, DNAAF1 +26 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	GLikely pathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815857	GRCh37/hg19 16q23.3(chr16:83853228-84189313)x1	SLC38A8, MLYCD +5 more	Copy number loss	not provided	GUncertain significance
Select item 815856	GRCh37/hg19 16q23.3-24.1(chr16:83330709-84866927)x1	OSGIN1, SLC38A8 +18 more	Copy number loss	not provided	GUncertain significance
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564363	GRCh37/hg19 16q23.3-24.1(chr16:84111320-84485022)x3	TAF1C, KCNG4 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442604	GRCh37/hg19 16q23.3(chr16:83903257-84174323)x1	HSDL1, MBTPS1 +4 more	Copy number loss	See cases	GLikely benign
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441845	GRCh37/hg19 16q23.3-24.1(chr16:83926471-84215425)x1	DNAAF1, HSDL1 +6 more	Copy number loss	See cases	GUncertain significance
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394839	GRCh37/hg19 16q23.3-24.1(chr16:84115509-84214129)x1	DNAAF1, HSDL1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 393766	GRCh37/hg19 16q23.3-24.1(chr16:84098379-84402295)x3	ADAD2, ATP2C2 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253901	GRCh37/hg19 16q23.3-24.1(chr16:83496909-84695933)x1	LOC654780, OSGIN1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 219038	GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1	ADAD2, ATP2C2 +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic

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Items: 95