ClinVar for Gene (Select 2104) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685832	GRCh37/hg19 1q41(chr1:217264291-217374622)x1	ESRRG	Copy number loss	not provided	GUncertain significance
Select item 2685821	GRCh37/hg19 1q41(chr1:214853277-222111742)x1	BPNT1, C1orf115 +20 more	Copy number loss	not provided	GPathogenic
Select item 2403489	NM_001438.4(ESRRG):c.86G>A (p.Arg29Gln)	ESRRG (R6Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395705	NM_001438.4(ESRRG):c.16C>T (p.Leu6Phe)	ESRRG (L6F)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2367717	NM_001438.4(ESRRG):c.157G>A (p.Val53Ile)	ESRRG (V30I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339668	NM_001438.4(ESRRG):c.634C>T (p.Arg212Cys)	ESRRG (R217C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320168	NM_001438.4(ESRRG):c.400A>G (p.Ile134Val)	ESRRG (I111V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304795	NM_001438.4(ESRRG):c.1136C>G (p.Ser379Cys)	ESRRG (S379C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239273	NM_001438.4(ESRRG):c.940G>A (p.Val314Ile)	ESRRG (V129I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235535	NM_001438.4(ESRRG):c.1289A>G (p.Lys430Arg)	ESRRG (K442R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224090	NM_001438.4(ESRRG):c.73T>C (p.Ser25Pro)	ESRRG (S2P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527548	GRCh37/hg19 1q41(chr1:216767549-218152575)	ESRRG, GPATCH2 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1340474	GRCh37/hg19 1q41(chr1:216859478-217324311)x3	ESRRG	Copy number gain	not provided	GUncertain significance
Select item 1199386	Single allele	IARS2, BROX +27 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199384	Single allele	TGFB2, ESRRG +4 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1199383	Single allele	RRP15, TGFB2 +8 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 1070622	NC_000001.10:g.(?_216348580)_(216896641_?)del	ESRRG, USH2A	Deletion	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 775167	NM_001438.4(ESRRG):c.472+9C>T	ESRRG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 720728	NM_001438.4(ESRRG):c.492C>T (p.Cys164=)	ESRRG	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 687070	GRCh37/hg19 1q41(chr1:217157107-217206596)x3	ESRRG	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 619056	NM_001438.4(ESRRG):c.56+15867GT[3]	ESRRG (P20fs)	Microsatellite (frameshift variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 619040	NM_001438.4(ESRRG):c.1067A>G (p.Tyr356Cys)	ESRRG (Y333C +5 more)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 565223	GRCh37/hg19 1q41(chr1:216761324-218152278)x3	GPATCH2, ESRRG +1 more	Copy number gain	not provided	GUncertain significance
Select item 523271	GRCh37/hg19 1q41(chr1:215829463-219225857)	ESRRG, GPATCH2 +4 more	Copy number loss	Scoliosis +4 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 224871	Single allele	EPRS1, SLC30A10 +6 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 224870	Single allele	TGFB2, USH2A +19 more	Deletion	Loeys-Dietz syndrome 4	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 154040	GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3	CENPF, ESRRG +40 more	Copy number gain	See cases	GUncertain significance
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 148989	GRCh38/hg38 1q41(chr1:216598114-218007334)x3	ESRRG, GPATCH2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 147391	GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3	CENPF, ESRRG +30 more	Copy number gain	See cases	GUncertain significance
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 60081	GRCh38/hg38 1q41(chr1:216518607-219827290)x1	ESRRG, GPATCH2 +55 more	Copy number loss	See cases	GPathogenic
Select item 60080	GRCh38/hg38 1q41(chr1:216396695-217549806)x1	ESRRG, GPATCH2 +13 more	Copy number loss	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 55