GPC5[gene] and "single gene"[properties] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2223691	NM_004466.6(GPC5):c.7G>A (p.Ala3Thr)	GPC5 (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101258	NM_004466.6(GPC5):c.20C>A (p.Pro7His)	GPC5 (P7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538036	NM_004466.6(GPC5):c.20C>G (p.Pro7Arg)	GPC5 (P7R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460054	NM_004466.6(GPC5):c.22G>T (p.Val8Leu)	GPC5 (V8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225998	NM_004466.6(GPC5):c.47T>C (p.Leu16Pro)	GPC5 (L16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101259	NM_004466.6(GPC5):c.67C>A (p.Arg23Ser)	GPC5 (R23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236725	NM_004466.6(GPC5):c.79G>A (p.Val27Met)	GPC5 (V27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329867	NM_004466.6(GPC5):c.130G>A (p.Ala44Thr)	GPC5 (A44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722397	NM_004466.6(GPC5):c.153G>A (p.Ser51=)	GPC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 146105	GRCh38/hg38 13q31.3(chr13:91413206-91615256)x1	GPC5	Copy number loss	See cases	GBenign
Select item 154499	GRCh38/hg38 13q31.3(chr13:91413406-91615115)x1	GPC5	Copy number loss	See cases	Gconflicting data from submitters
Select item 151277	GRCh38/hg38 13q31.3(chr13:91413406-91625217)x1	GPC5	Copy number loss	See cases	GLikely benign
Select item 2499627	GRCh38/hg38 13q31.3(chr13:91423419-91631346)	GPC5	Copy number loss	See cases	GBenign
Select item 58176	GRCh38/hg38 13q31.3(chr13:91431897-91628212)x1	GPC5	Copy number loss	See cases	GUncertain significance
Select item 152625	GRCh38/hg38 13q31.3(chr13:91441741-91625217)x1	GPC5	Copy number loss	See cases	GLikely benign
Select item 2518027	NM_004466.6(GPC5):c.239C>T (p.Ala80Val)	GPC5 (A80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402217	NM_004466.6(GPC5):c.272C>T (p.Thr91Met)	GPC5 (T91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496255	NM_004466.6(GPC5):c.283A>G (p.Thr95Ala)	GPC5 (T95A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396640	NM_004466.6(GPC5):c.298A>G (p.Ile100Val)	GPC5 (I100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371190	NM_004466.6(GPC5):c.311C>T (p.Ala104Val)	GPC5 (A104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145224	GRCh38/hg38 13q31.3(chr13:91521052-91597567)x1	GPC5	Copy number loss	See cases	GBenign/Likely benign
Select item 57040	GRCh38/hg38 13q31.3(chr13:91615056-91879009)x1	GPC5	Copy number loss	See cases	GUncertain significance
Select item 714328	NM_004466.6(GPC5):c.483A>G (p.Glu161=)	GPC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2272606	NM_004466.6(GPC5):c.520G>C (p.Val174Leu)	GPC5 (V174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046562	NM_004466.6(GPC5):c.557G>T (p.Ser186Ile)	GPC5 (S186I)	Single nucleotide variant (missense variant)	GPC5-related disorder	GLikely benign
Select item 2403777	NM_004466.6(GPC5):c.566A>G (p.Glu189Gly)	GPC5 (E189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508171	NM_004466.6(GPC5):c.584G>A (p.Arg195Gln)	GPC5 (R195Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3282129	NM_004466.6(GPC5):c.685C>T (p.Leu229Phe)	GPC5 (L229F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041123	NM_004466.6(GPC5):c.730T>G (p.Phe244Val)	GPC5 (F244V)	Single nucleotide variant (missense variant)	GPC5-related disorder	GLikely benign
Select item 3054299	NM_004466.6(GPC5):c.776C>G (p.Pro259Arg)	GPC5 (P259R)	Single nucleotide variant (missense variant)	GPC5-related disorder	GLikely benign
Select item 3356467	NM_004466.6(GPC5):c.836G>A (p.Arg279Gln)	GPC5 (R279Q)	Single nucleotide variant (missense variant)	GPC5-related disorder	GUncertain significance
Select item 2538420	NM_004466.6(GPC5):c.881C>T (p.Ala294Val)	GPC5 (A294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315261	NM_004466.6(GPC5):c.881C>G (p.Ala294Gly)	GPC5 (A294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332103	NM_004466.6(GPC5):c.899A>G (p.Glu300Gly)	GPC5 (E300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101260	NM_004466.6(GPC5):c.989C>T (p.Ala330Val)	GPC5 (A330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788447	NM_004466.6(GPC5):c.991C>T (p.His331Tyr)	GPC5 (H331Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2510310	NM_004466.6(GPC5):c.994C>G (p.Leu332Val)	GPC5 (L332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378093	NM_004466.6(GPC5):c.1040G>A (p.Arg347His)	GPC5 (R347H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3282126	NM_004466.6(GPC5):c.1111A>T (p.Thr371Ser)	GPC5 (T371S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282131	NM_004466.6(GPC5):c.1126A>G (p.Ser376Gly)	GPC5 (S376G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2302826	NM_004466.6(GPC5):c.1148G>A (p.Arg383Lys)	GPC5 (R383K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328289	NM_004466.6(GPC5):c.1151G>T (p.Arg384Ile)	GPC5 (R384I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487886	NM_004466.6(GPC5):c.1259A>T (p.Asn420Ile)	GPC5 (N420I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155478	GRCh38/hg38 13q31.3(chr13:91799693-92057976)x1	GPC5	Copy number loss	See cases	GUncertain significance
Select item 150438	GRCh38/hg38 13q31.3(chr13:91896856-91922860)x1	GPC5	Copy number loss	See cases	GLikely benign
Select item 3282130	NM_004466.6(GPC5):c.1286C>T (p.Thr429Ile)	GPC5 (T429I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609080	NM_004466.6(GPC5):c.1379A>G (p.Asp460Gly)	GPC5 (D460G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274565	NM_004466.6(GPC5):c.1449G>T (p.Gln483His)	GPC5 (Q483H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279377	NM_004466.6(GPC5):c.1451T>C (p.Leu484Pro)	GPC5 (L484P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272155	NM_004466.6(GPC5):c.1466G>A (p.Gly489Asp)	GPC5 (G489D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150270	GRCh38/hg38 13q31.3(chr13:92270151-92288777)x1	GPC5	Copy number loss	See cases	GLikely benign
Select item 2226079	NM_004466.6(GPC5):c.1591G>A (p.Val531Ile)	GPC5 (V531I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282128	NM_004466.6(GPC5):c.1592T>C (p.Val531Ala)	GPC5 (V531A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556805	NM_004466.6(GPC5):c.1633A>G (p.Thr545Ala)	GPC5 (T545A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101256	NM_004466.6(GPC5):c.1637C>A (p.Thr546Lys)	GPC5 (T546K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270936	NM_004466.6(GPC5):c.1663G>C (p.Glu555Gln)	GPC5 (E555Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517866	NM_004466.6(GPC5):c.1670T>A (p.Met557Lys)	GPC5 (M557K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484211	NM_004466.6(GPC5):c.1678A>G (p.Thr560Ala)	GPC5 (T560A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101257	NM_004466.6(GPC5):c.1679C>T (p.Thr560Ile)	GPC5 (T560I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282127	NM_004466.6(GPC5):c.1697T>A (p.Met566Lys)	GPC5 (M566K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063285	GRCh37/hg19 13q31.3(chr13:92314605-92396512)x1	GPC5	Copy number loss	not specified	GUncertain significance
Select item 1527789	GRCh37/hg19 13q31.3(chr13:92062055-92303438)	GPC5	Copy number loss	not specified	GUncertain significance
Select item 1340930	GRCh37/hg19 13q31.3(chr13:93296805-93862088)x3	GPC5	Copy number gain	not provided	GLikely benign
Select item 1340900	GRCh37/hg19 13q31.3(chr13:92672250-92899251)x1	GPC5	Copy number loss	not provided	GUncertain significance
Select item 815609	GRCh37/hg19 13q31.3(chr13:93496718-93752908)x3	GPC5	Copy number gain	not provided	GLikely benign
Select item 815608	GRCh37/hg19 13q31.3(chr13:92531775-92614137)x1	GPC5	Copy number loss	not provided	GUncertain significance
Select item 815607	GRCh37/hg19 13q31.3(chr13:92502204-92633877)x1	GPC5	Copy number loss	not provided	GUncertain significance
Select item 815606	GRCh37/hg19 13q31.3(chr13:92343338-92579579)x3	GPC5	Copy number gain	not provided	GUncertain significance
Select item 688755	GRCh37/hg19 13q31.3(chr13:93296466-93861493)x3	GPC5	Copy number gain	not provided	GUncertain significance
Select item 687722	GRCh37/hg19 13q31.3(chr13:92062330-92301985)x1	GPC5	Copy number loss	not provided	GUncertain significance
Select item 564050	GRCh37/hg19 13q31.3(chr13:92148518-93073022)x3	GPC5	Copy number gain	not provided	GLikely benign
Select item 564012	GRCh37/hg19 13q31.3(chr13:92432522-92646309)x1	GPC5	Copy number loss	not provided	GUncertain significance
Select item 442439	GRCh37/hg19 13q31.3(chr13:92788368-92846125)x1	GPC5	Copy number loss	See cases	GUncertain significance
Select item 441542	GRCh37/hg19 13q31.3(chr13:92062055-92303438)x1	GPC5	Copy number loss	See cases	Gconflicting data from submitters
Select item 393586	GRCh37/hg19 13q31.3(chr13:92065660-92299019)x1	GPC5	Copy number loss	not specified	GUncertain significance
Select item 393542	GRCh37/hg19 13q31.3(chr13:93377562-93606814)x1	GPC5	Copy number loss	VATER association	GLikely benign
Select item 226239	GRCh37/hg19 13q31.3(chr13:92979291-93049171)	GPC5	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 226238	GRCh37/hg19 13q31.3(chr13:92958981-93035128)	GPC5	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 221990	GRCh37/hg19 13q31.3(chr13:92520462-92715040)x1	GPC5	Copy number loss	See cases	GLikely benign

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Items: 79