3937[geneid] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 148246	GRCh38/hg38 5q35.1(chr5:170226622-171028731)x3	C5orf58, GABRP +22 more	Copy number gain	See cases	GLikely benign
Select item 3118161	NM_005565.5(LCP2):c.1580C>T (p.Thr527Met)	C5orf58, LCP2 (T527M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656066	NM_005565.5(LCP2):c.1564T>C (p.Tyr522His)	C5orf58, LCP2 (Y522H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2688122	NR_131091.3(C5orf58):n.904C>T	C5orf58, LCP2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 1701493	NM_005565.5(LCP2):c.1301C>T (p.Ala434Val)	C5orf58, LCP2 (A434V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2671908	NM_005565.5(LCP2):c.1279A>G (p.Ile427Val)	C5orf58, LCP2 (I427V)	Single nucleotide variant (non-coding transcript variant +1 more)	Immunodeficiency 81	GUncertain significance
Select item 2462831	NM_005565.5(LCP2):c.1234G>A (p.Ala412Thr)	LCP2 (A412T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281615	NM_005565.5(LCP2):c.1231C>T (p.Pro411Ser)	LCP2 (P411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656067	NM_005565.5(LCP2):c.1229C>G (p.Ser410Cys)	LCP2 (S410C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2228149	NM_005565.5(LCP2):c.1222C>A (p.Pro408Thr)	LCP2 (P408T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656068	NM_005565.5(LCP2):c.1179C>T (p.Ala393=)	LCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3118160	NM_005565.5(LCP2):c.1013G>A (p.Ser338Asn)	LCP2 (S338N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290321	NM_005565.5(LCP2):c.1010T>A (p.Met337Lys)	LCP2 (M337K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118167	NM_005565.5(LCP2):c.983C>T (p.Pro328Leu)	LCP2 (P328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2687970	NM_005565.5(LCP2):c.978G>A (p.Gln326=)	LCP2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688341	NM_005565.5(LCP2):c.958-125A>G	LCP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1172796	NM_005565.5(LCP2):c.957+1G>A	LCP2	Single nucleotide variant (splice donor variant)	Immunodeficiency 81	GPathogenic
Select item 2691314	NM_005565.5(LCP2):c.928C>T (p.His310Tyr)	LCP2 (H310Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299012	NM_005565.5(LCP2):c.928C>A (p.His310Asn)	LCP2 (H310N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688247	NM_005565.5(LCP2):c.926+120C>T	LCP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688075	NM_005565.5(LCP2):c.926+35C>G	LCP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2312430	NM_005565.5(LCP2):c.914C>G (p.Pro305Arg)	LCP2 (P305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382118	NM_005565.5(LCP2):c.896C>T (p.Pro299Leu)	LCP2 (P299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118166	NM_005565.5(LCP2):c.854C>T (p.Pro285Leu)	LCP2 (P285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599656	NM_005565.5(LCP2):c.785C>G (p.Pro262Arg)	LCP2 (P262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118165	NM_005565.5(LCP2):c.724C>T (p.Pro242Ser)	LCP2 (P242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458679	NM_005565.5(LCP2):c.644A>G (p.Asn215Ser)	LCP2 (N215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1333235	NM_005565.5(LCP2):c.610C>T (p.Arg204Trp)	LCP2 (R204W)	Single nucleotide variant (missense variant)	Immunodeficiency 81	GUncertain significance
Select item 2656069	NM_005565.5(LCP2):c.606C>T (p.Ala202=)	LCP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2296212	NM_005565.5(LCP2):c.598C>A (p.Pro200Thr)	LCP2 (P200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339552	NM_005565.5(LCP2):c.569C>T (p.Pro190Leu)	LCP2 (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1333347	NM_005565.5(LCP2):c.569C>G (p.Pro190Arg)	LCP2 (P190R)	Single nucleotide variant (missense variant)	Immunodeficiency 81	GUncertain significance
Select item 2688279	NM_005565.5(LCP2):c.564G>A (p.Val188=)	LCP2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2687975	NM_005565.5(LCP2):c.523+16C>T	LCP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2455613	NM_005565.5(LCP2):c.428C>T (p.Ala143Val)	LCP2 (A143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118164	NM_005565.5(LCP2):c.415G>A (p.Val139Met)	LCP2 (V139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290322	NM_005565.5(LCP2):c.363T>A (p.Asp121Glu)	LCP2 (D121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537377	NM_005565.5(LCP2):c.343A>C (p.Ser115Arg)	LCP2 (S115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327225	NM_005565.5(LCP2):c.334G>A (p.Asp112Asn)	LCP2 (D112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688156	NM_005565.5(LCP2):c.325-107T>C	LCP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2508166	NM_005565.5(LCP2):c.266C>T (p.Pro89Leu)	LCP2 (P89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688035	NM_005565.5(LCP2):c.255-35G>T	LCP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3118162	NM_005565.5(LCP2):c.181C>T (p.Arg61Trp)	LCP2 (R61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610199	NM_005565.5(LCP2):c.149C>T (p.Thr50Ile)	LCP2 (T50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688081	NM_005565.5(LCP2):c.142-18T>C	LCP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2236944	NM_005565.5(LCP2):c.52G>A (p.Asp18Asn)	LCP2 (D18N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487125	NM_005565.5(LCP2):c.46G>A (p.Asp16Asn)	LCP2 (D16N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246414	NC_000005.9:g.(?_169064331)_(170245847_?)dup	C5orf58, DOCK2 +7 more	Duplication	DOCK2 deficiency	GUncertain significance
Select item 3062837	GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1	C5orf58, DOCK2 +18 more	Copy number loss	not specified	GPathogenic
Select item 1809507	GRCh37/hg19 5q35.1(chr5:169679354-170242652)x3	GABRP, KCNIP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 980751	GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1	C5orf58, DOCK2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441595	GRCh37/hg19 5q35.1(chr5:168955293-170432136)x1	C5orf58, DOCK2 +9 more	Copy number loss	See cases	GUncertain significance
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253799	GRCh37/hg19 5q35.1(chr5:169724500-170051199)x3	LOC100128059, LCP2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 70