GOLPH3[gene] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 147643	GRCh38/hg38 5p13.3(chr5:31208753-32173244)x3	C5orf22, CDH6 +17 more	Copy number gain	See cases	GPathogenic
Select item 156970	NC_000005.10:g.32101294_32159411dup	GOLPH3, LOC126807344 +1 more	Duplication	Normal pregnancy +1 more	Gnot provided
Select item 221810	GRCh38/hg38 5p13.3(chr5:32107275-32159411)x3	GOLPH3, PDZD2 +1 more	Copy number gain	Premature ovarian failure	GBenign
Select item 147598	GRCh38/hg38 5p13.3(chr5:32110628-32149617)x3	GOLPH3, LOC126807344 +1 more	Copy number gain	See cases	GBenign
Select item 3100974	NM_022130.4(GOLPH3):c.893A>C (p.Lys298Thr)	GOLPH3, LOC126807344 (K298T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281973	NM_022130.4(GOLPH3):c.881C>T (p.Ala294Val)	GOLPH3, LOC126807344 (A294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3521303	NM_022130.4(GOLPH3):c.817G>A (p.Asp273Asn)	GOLPH3, LOC126807344 (D273N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100973	NM_022130.4(GOLPH3):c.805C>T (p.Arg269Trp)	GOLPH3, LOC126807344 (R269W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266560	NM_022130.4(GOLPH3):c.794C>T (p.Thr265Ile)	GOLPH3, LOC126807344 (T265I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328153	NM_022130.4(GOLPH3):c.780G>T (p.Gln260His)	GOLPH3, LOC126807344 (Q260H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335703	NM_022130.4(GOLPH3):c.763C>T (p.Pro255Ser)	GOLPH3, LOC126807344 (P255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240434	NM_022130.4(GOLPH3):c.760G>C (p.Ala254Pro)	GOLPH3, LOC126807344 (A254P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655384	NM_022130.4(GOLPH3):c.741C>T (p.Asp247=)	GOLPH3, LOC126807344	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3281972	NM_022130.4(GOLPH3):c.691C>T (p.Arg231Cys)	GOLPH3, LOC126807344 (R231C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3521304	NM_022130.4(GOLPH3):c.641T>C (p.Ile214Thr)	GOLPH3, LOC126807344 (I214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100972	NM_022130.4(GOLPH3):c.634C>T (p.Arg212Cys)	GOLPH3, LOC126807344 (R212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655385	NM_022130.4(GOLPH3):c.496T>C (p.Leu166=)	GOLPH3, LOC126807344	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3281974	NM_022130.4(GOLPH3):c.374A>T (p.Asp125Val)	GOLPH3 (D125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529012	NM_022130.4(GOLPH3):c.284T>C (p.Ile95Thr)	GOLPH3 (I95T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685150	GRCh37/hg19 5p13.3(chr5:32032005-32170613)x1	GOLPH3, PDZD2	Copy number loss	not provided	GUncertain significance
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 814678	GRCh37/hg19 5p13.3-13.2(chr5:29720391-34124081)x1	TARS1, RXFP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 549891	Single allele	GOLPH3, PDZD2	Deletion	Global developmental delay	GBenign
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442782	GRCh37/hg19 5p13.3(chr5:31115730-32226629)x3	C5orf22, CDH6 +3 more	Copy number gain	See cases	GUncertain significance
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 394369	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1	ADAMTS12, ADAMTS16 +82 more	Copy number loss	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic
Select item 253537	GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3	AHRR, ADAMTS12 +82 more	Copy number gain	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

Search results

Items: 49