HAPLN3[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 2507568	NM_178232.4(HAPLN3):c.1057G>A (p.Gly353Ser)	HAPLN3 (G353S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104220	NM_178232.4(HAPLN3):c.1053G>C (p.Leu351Phe)	HAPLN3 (L413F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374654	NM_178232.4(HAPLN3):c.1036G>A (p.Asp346Asn)	HAPLN3 (D346N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215219	NM_178232.4(HAPLN3):c.997G>T (p.Gly333Trp)	HAPLN3 (G333W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378996	NM_178232.4(HAPLN3):c.964C>T (p.Arg322Cys)	HAPLN3 (R384C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385869	NM_178232.4(HAPLN3):c.961G>A (p.Val321Ile)	HAPLN3 (V321I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599080	NM_178232.4(HAPLN3):c.904G>T (p.Ala302Ser)	HAPLN3 (A364S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254673	NM_178232.4(HAPLN3):c.875C>T (p.Thr292Met)	HAPLN3 (T292M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104232	NM_178232.4(HAPLN3):c.866A>G (p.Asp289Gly)	HAPLN3 (D289G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104231	NM_178232.4(HAPLN3):c.820C>G (p.Pro274Ala)	HAPLN3 (P274A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104229	NM_178232.4(HAPLN3):c.791T>C (p.Leu264Pro)	HAPLN3 (L264P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609810	NM_178232.4(HAPLN3):c.757C>T (p.His253Tyr)	HAPLN3 (H315Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550914	NM_178232.4(HAPLN3):c.742C>T (p.Arg248Cys)	HAPLN3 (R248C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604666	NM_178232.4(HAPLN3):c.707C>T (p.Pro236Leu)	HAPLN3 (P236L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614239	NM_178232.4(HAPLN3):c.680T>C (p.Met227Thr)	HAPLN3 (M289T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493498	NM_178232.4(HAPLN3):c.673C>T (p.Pro225Ser)	HAPLN3 (P287S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394382	NM_178232.4(HAPLN3):c.641C>T (p.Ala214Val)	HAPLN3 (A214V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462909	NM_178232.4(HAPLN3):c.640G>A (p.Ala214Thr)	HAPLN3 (A214T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104228	NM_178232.4(HAPLN3):c.634T>C (p.Cys212Arg)	HAPLN3 (C274R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283474	NM_178232.4(HAPLN3):c.633G>C (p.Trp211Cys)	HAPLN3 (W273C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104227	NM_178232.4(HAPLN3):c.616G>A (p.Glu206Lys)	HAPLN3 (E268K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104226	NM_178232.4(HAPLN3):c.595G>A (p.Glu199Lys)	HAPLN3 (E199K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260799	NM_178232.4(HAPLN3):c.589T>G (p.Ser197Ala)	HAPLN3 (S259A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321443	NM_178232.4(HAPLN3):c.546C>G (p.His182Gln)	HAPLN3 (H244Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104225	NM_178232.4(HAPLN3):c.484G>A (p.Glu162Lys)	HAPLN3 (E162K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597346	NM_178232.4(HAPLN3):c.469G>T (p.Gly157Cys)	HAPLN3 (G157C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341512	NM_178232.4(HAPLN3):c.469G>A (p.Gly157Ser)	HAPLN3 (G157S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604730	NM_178232.4(HAPLN3):c.451G>T (p.Gly151Trp)	HAPLN3 (G151W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602497	NM_178232.4(HAPLN3):c.434G>A (p.Arg145His)	HAPLN3 (R145H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104224	NM_178232.4(HAPLN3):c.427C>T (p.Arg143Cys)	HAPLN3 (R205C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217431	NM_178232.4(HAPLN3):c.424G>A (p.Gly142Arg)	HAPLN3 (G142R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399097	NM_178232.4(HAPLN3):c.410G>A (p.Arg137Gln)	HAPLN3 (R199Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297298	NM_178232.4(HAPLN3):c.409C>T (p.Arg137Trp)	HAPLN3 (R137W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516176	NM_178232.4(HAPLN3):c.405T>A (p.Asp135Glu)	HAPLN3 (D135E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366373	NM_178232.4(HAPLN3):c.389C>T (p.Ser130Leu)	HAPLN3 (S130L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368149	NM_178232.4(HAPLN3):c.377A>G (p.Glu126Gly)	HAPLN3 (E126G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104223	NM_178232.4(HAPLN3):c.355G>T (p.Val119Leu)	HAPLN3 (V181L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602438	NM_178232.4(HAPLN3):c.353G>A (p.Arg118His)	HAPLN3 (R180H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485018	NM_178232.4(HAPLN3):c.353G>T (p.Arg118Leu)	HAPLN3 (R118L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342423	NM_178232.4(HAPLN3):c.329G>A (p.Arg110His)	HAPLN3 (R110H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645678	NM_178232.4(HAPLN3):c.316G>A (p.Gly106Arg)	HAPLN3 (G106R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2238465	NM_178232.4(HAPLN3):c.275C>T (p.Ser92Leu)	HAPLN3 (S154L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467566	NM_178232.4(HAPLN3):c.241C>T (p.Pro81Ser)	HAPLN3 (P143S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104222	NM_178232.4(HAPLN3):c.227C>T (p.Pro76Leu)	HAPLN3 (P76L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457914	NM_178232.4(HAPLN3):c.206C>T (p.Pro69Leu)	HAPLN3 (P69L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278940	NM_178232.4(HAPLN3):c.181T>C (p.Tyr61His)	HAPLN3 (Y123H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540128	NM_178232.4(HAPLN3):c.170C>T (p.Thr57Ile)	HAPLN3 (T119I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360313	NM_178232.4(HAPLN3):c.163G>A (p.Glu55Lys)	HAPLN3 (E117K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104221	NM_178232.4(HAPLN3):c.161C>A (p.Pro54His)	HAPLN3 (P116H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104233	NM_178232.4(HAPLN3):c.95A>T (p.Asp32Val)	HAPLN3 (D32V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283472	NM_178232.4(HAPLN3):c.56C>A (p.Pro19His)	HAPLN3 (P19H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283473	NM_178232.4(HAPLN3):c.49G>A (p.Gly17Arg)	HAPLN3 (G17R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	FANCI, FES +50 more	Copy number loss	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 86