LOC121852963[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 1715375	NM_017831.4(RNF125):c.10G>C (p.Val4Leu)	LOC121852963, RNF125 (V4L)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 3155002	NM_017831.4(RNF125):c.11T>G (p.Val4Gly)	LOC121852963, RNF125 (V4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1168280	NM_017831.4(RNF125):c.21C>T (p.Thr7=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GBenign
Select item 1806236	NM_017831.4(RNF125):c.24C>G (p.Asp8Glu)	LOC121852963, RNF125 (D8E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 707497	NM_017831.4(RNF125):c.28_30del (p.Gly10del)	LOC121852963, RNF125 (G10del)	Deletion (inframe_deletion)	Tenorio syndrome	GBenign
Select item 1679769	NM_017831.4(RNF125):c.40C>T (p.Pro14Ser)	LOC121852963, RNF125 (P14S)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 2821728	NM_017831.4(RNF125):c.42C>G (p.Pro14=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GLikely benign
Select item 542140	NM_017831.4(RNF125):c.47C>G (p.Ser16Cys)	LOC121852963, RNF125 (S16C)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 1979017	NM_017831.4(RNF125):c.70C>T (p.Arg24Cys)	LOC121852963, RNF125 (R24C)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 542141	NM_017831.4(RNF125):c.81C>A (p.Asp27Glu)	LOC121852963, RNF125 (D27E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2348725	NM_017831.4(RNF125):c.82C>T (p.Pro28Ser)	LOC121852963, RNF125 (P28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 726819	NM_017831.4(RNF125):c.90G>A (p.Leu30=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	RNF125-related condition +1 more	GBenign/Likely benign
Select item 377122	NM_017831.4(RNF125):c.92C>T (p.Pro31Leu)	LOC121852963, RNF125 (P31L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2876918	NM_017831.4(RNF125):c.111C>T (p.Cys37=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GLikely benign
Select item 436546	NM_017831.4(RNF125):c.122T>C (p.Leu41Pro)	LOC121852963, RNF125 (L41P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1954081	NM_017831.4(RNF125):c.127G>A (p.Val43Met)	LOC121852963, RNF125 (V43M)	Single nucleotide variant (missense variant)	Tenorio syndrome	GUncertain significance
Select item 772500	NM_017831.4(RNF125):c.132A>G (p.Leu44=)	LOC121852963, RNF125	Single nucleotide variant (synonymous variant)	Tenorio syndrome	GBenign

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Items: 33