4844[HGNC] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	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
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 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	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 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 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 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 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 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 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 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 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 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 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 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 1291285	NM_005335.6(HCLS1):c.1092TGAGCC[4] (p.364PE[8])	HCLS1	Microsatellite (inframe_insertion)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2654067	NM_005335.6(HCLS1):c.552C>T (p.His184=)	HCLS1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 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 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 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
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 2407767	NM_005335.6(HCLS1):c.352A>C (p.Lys118Gln)	HCLS1 (K118Q)	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 3104483	NM_005335.6(HCLS1):c.256C>T (p.Arg86Trp)	HCLS1 (R86W)	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 3104482	NM_005335.6(HCLS1):c.199G>A (p.Val67Ile)	HCLS1 (V67I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3283620	NM_005335.6(HCLS1):c.106C>G (p.Gln36Glu)	HCLS1 (Q36E)	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 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 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

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Items: 62