LOC130003278[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 3349790	NM_001002295.2(GATA3):c.183G>A (p.Pro61=)	GATA3, LOC130003278	Single nucleotide variant (synonymous variant)	GATA3-related disorder	GLikely benign
Select item 2901022	NM_001002295.2(GATA3):c.188A>G (p.Tyr63Cys)	GATA3, LOC130003278 (Y63C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342024	NM_001002295.2(GATA3):c.201G>A (p.Ser67=)	GATA3, LOC130003278	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897006	NM_001002295.2(GATA3):c.205A>G (p.Arg69Gly)	GATA3, LOC130003278 (R69G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331186	NM_001002295.2(GATA3):c.209C>A (p.Ala70Asp)	GATA3, LOC130003278 (A70D)	Single nucleotide variant (missense variant)	Hypoparathyroidism, deafness, renal disease syndrome +1 more	GUncertain significance
Select item 715503	NM_001002295.2(GATA3):c.210C>G (p.Ala70=)	GATA3, LOC130003278	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 505766	NM_001002295.2(GATA3):c.213G>C (p.Thr71=)	GATA3, LOC130003278	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 301119	NM_001002295.2(GATA3):c.216G>T (p.Val72=)	GATA3, LOC130003278	Single nucleotide variant (synonymous variant)	Hypoparathyroidism, deafness, renal disease syndrome +2 more	GBenign/Likely benign
Select item 1468835	NM_001002295.2(GATA3):c.219G>C (p.Gln73His)	GATA3, LOC130003278 (Q73H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361834	NM_001002295.2(GATA3):c.233C>A (p.Thr78Asn)	GATA3, LOC130003278 (T78N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 877499	NM_001002295.2(GATA3):c.241+8C>T	GATA3, LOC130003278	Single nucleotide variant (intron variant)	Hypoparathyroidism, deafness, renal disease syndrome	GBenign
Select item 1897407	NM_001002295.2(GATA3):c.241+9G>T	GATA3, LOC130003278	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002140	NM_001002295.2(GATA3):c.241+12C>T	GATA3, LOC130003278	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 25