ClinVar for Gene (Select 3059) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283620	NM_005335.6(HCLS1):c.106C>G (p.Gln36Glu)	HCLS1 (Q36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283619	NM_005335.6(HCLS1):c.287A>C (p.Lys96Thr)	HCLS1 (K96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283618	NM_005335.6(HCLS1):c.1283C>T (p.Ala428Val)	HCLS1 (A391V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283617	NM_005335.6(HCLS1):c.956C>G (p.Thr319Ser)	HCLS1 (T319S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283616	NM_005335.6(HCLS1):c.142C>T (p.Arg48Cys)	HCLS1 (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104492	NM_005335.6(HCLS1):c.977C>T (p.Pro326Leu)	HCLS1 (P326L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104490	NM_005335.6(HCLS1):c.917T>C (p.Val306Ala)	HCLS1 (V306A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104489	NM_005335.6(HCLS1):c.796C>G (p.Gln266Glu)	HCLS1 (Q229E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104488	NM_005335.6(HCLS1):c.754C>G (p.Arg252Gly)	HCLS1 (R215G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104487	NM_005335.6(HCLS1):c.747G>T (p.Lys249Asn)	HCLS1 (K212N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104485	NM_005335.6(HCLS1):c.583G>T (p.Gly195Cys)	HCLS1 (G195C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104484	NM_005335.6(HCLS1):c.479G>A (p.Arg160Gln)	HCLS1 (R160Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104483	NM_005335.6(HCLS1):c.256C>T (p.Arg86Trp)	HCLS1 (R86W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104482	NM_005335.6(HCLS1):c.199G>A (p.Val67Ile)	HCLS1 (V67I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104481	NM_005335.6(HCLS1):c.1405C>T (p.Arg469Cys)	HCLS1 (R469C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104480	NM_005335.6(HCLS1):c.1387G>C (p.Glu463Gln)	HCLS1 (E463Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104479	NM_005335.6(HCLS1):c.1357G>A (p.Asp453Asn)	HCLS1 (D453N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104478	NM_005335.6(HCLS1):c.1312G>T (p.Asp438Tyr)	HCLS1 (D438Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104477	NM_005335.6(HCLS1):c.1234C>G (p.Leu412Val)	HCLS1 (L375V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104476	NM_005335.6(HCLS1):c.1204G>A (p.Glu402Lys)	HCLS1 (E365K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104475	NM_005335.6(HCLS1):c.1054C>T (p.Leu352Phe)	HCLS1 (L352F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2654068	NM_005335.6(HCLS1):c.496G>A (p.Asp166Asn)	HCLS1 (D166N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654067	NM_005335.6(HCLS1):c.552C>T (p.His184=)	HCLS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2552807	NM_005335.6(HCLS1):c.1367C>G (p.Thr456Ser)	HCLS1 (T456S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530174	NM_005335.6(HCLS1):c.1052G>T (p.Gly351Val)	HCLS1 (G314V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508147	NM_005335.6(HCLS1):c.238T>G (p.Ser80Ala)	HCLS1 (S80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478535	NM_005335.6(HCLS1):c.917T>A (p.Val306Asp)	HCLS1 (V306D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407767	NM_005335.6(HCLS1):c.352A>C (p.Lys118Gln)	HCLS1 (K118Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407517	NM_005335.6(HCLS1):c.632G>C (p.Gly211Ala)	HCLS1 (G174A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395434	NM_005335.6(HCLS1):c.803G>A (p.Arg268Gln)	HCLS1 (R231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394262	NM_005335.6(HCLS1):c.484G>A (p.Gly162Arg)	HCLS1 (G162R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371032	NM_005335.6(HCLS1):c.674C>T (p.Thr225Met)	HCLS1 (T225M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361444	NM_005335.6(HCLS1):c.34G>T (p.Val12Phe)	HCLS1 (V12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343907	NM_005335.6(HCLS1):c.706C>T (p.Arg236Cys)	HCLS1 (R236C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334675	NM_005335.6(HCLS1):c.377T>G (p.Val126Gly)	HCLS1 (V126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313236	NM_005335.6(HCLS1):c.785C>T (p.Ala262Val)	HCLS1 (A262V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312984	NM_005335.6(HCLS1):c.803G>T (p.Arg268Leu)	HCLS1 (R268L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286444	NM_005335.6(HCLS1):c.463C>T (p.Arg155Cys)	HCLS1 (R155C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277366	NM_005335.6(HCLS1):c.997A>T (p.Thr333Ser)	HCLS1 (T333S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271620	NM_005335.6(HCLS1):c.988A>C (p.Ile330Leu)	HCLS1 (I330L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270575	NM_005335.6(HCLS1):c.1064A>C (p.Glu355Ala)	HCLS1 (E318A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267833	NM_005335.6(HCLS1):c.871C>T (p.Pro291Ser)	HCLS1 (P291S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225003	NM_005335.6(HCLS1):c.1256C>T (p.Pro419Leu)	HCLS1 (P382L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224233	NM_005335.6(HCLS1):c.1387G>A (p.Glu463Lys)	HCLS1 (E426K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1291285	NM_005335.6(HCLS1):c.1092TGAGCC[4] (p.364PE[8])	HCLS1	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +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 253332	GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3	IQCB1, FAM162A +28 more	Copy number gain	See cases	GLikely pathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 62