LOC126861980[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 722130	NM_001034852.3(SMOC1):c.693G>A (p.Arg231=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 257189	NM_001034852.3(SMOC1):c.702C>T (p.Ala234=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 562133	NM_001034852.3(SMOC1):c.709G>T (p.Glu237Ter)	LOC126861980, SMOC1 (E237*)	Single nucleotide variant (nonsense)	Microphthalmia with limb anomalies	GPathogenic
Select item 30726	NM_001034852.3(SMOC1):c.718C>T (p.Gln240Ter)	LOC126861980, SMOC1 (Q240*)	Single nucleotide variant (nonsense)	Microphthalmia with limb anomalies	GPathogenic
Select item 2496051	NM_001034852.3(SMOC1):c.728G>A (p.Arg243His)	LOC126861980, SMOC1 (R243H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269216	NM_001034852.3(SMOC1):c.809G>A (p.Trp270Ter)	LOC126861980, SMOC1 (W270*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 562136	NM_001034852.3(SMOC1):c.812G>A (p.Cys271Tyr)	LOC126861980, SMOC1 (C271Y)	Single nucleotide variant (missense variant)	Microphthalmia with limb anomalies	GLikely pathogenic
Select item 281450	NM_001034852.3(SMOC1):c.832C>T (p.Arg278Cys)	LOC126861980, SMOC1 (R278C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2480172	NM_001034852.3(SMOC1):c.835C>T (p.Pro279Ser)	LOC126861980, SMOC1 (P279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 562137	NM_001034852.3(SMOC1):c.857G>A (p.Arg286His)	LOC126861980, SMOC1 (R286H)	Single nucleotide variant (missense variant)	Microphthalmia with limb anomalies	GPathogenic
Select item 3032615	NM_001034852.3(SMOC1):c.857+10C>A	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	SMOC1-related disorder	GLikely benign
Select item 1222669	NM_001034852.3(SMOC1):c.857+32C>T	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	Microphthalmia with limb anomalies +1 more	GBenign
Select item 1246926	NM_001034852.3(SMOC1):c.857+123A>G	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269782	NM_001034852.3(SMOC1):c.858-27del	LOC126861980, SMOC1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1233175	NM_001034852.3(SMOC1):c.858-26C>T	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1974379	NM_001034852.3(SMOC1):c.858-20_858-18del	LOC126861980, SMOC1	Deletion (intron variant)	not provided	GLikely benign
Select item 257190	NM_001034852.3(SMOC1):c.858-19C>A	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	Microphthalmia with limb anomalies +2 more	GBenign
Select item 1974380	NM_001034852.3(SMOC1):c.858-17T>A	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974382	NM_001034852.3(SMOC1):c.858-14C>A	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3166614	NM_001034852.3(SMOC1):c.858C>T (p.Arg286=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2114871	NM_001034852.3(SMOC1):c.873T>C (p.Ser291=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915199	NM_001034852.3(SMOC1):c.882C>T (p.Ser294=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907008	NM_001034852.3(SMOC1):c.885C>T (p.Asp295=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789815	NM_001034852.3(SMOC1):c.886G>A (p.Ala296Thr)	LOC126861980, SMOC1 (A296T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 287011	NM_001034852.3(SMOC1):c.886G>T (p.Ala296Ser)	LOC126861980, SMOC1 (A296S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2333422	NM_001034852.3(SMOC1):c.905A>G (p.Glu302Gly)	LOC126861980, SMOC1 (E302G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 759428	NM_001034852.3(SMOC1):c.909G>A (p.Ala303=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2546972	NM_001034852.3(SMOC1):c.917C>G (p.Pro306Arg)	LOC126861980, SMOC1 (P306R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484504	NM_001034852.3(SMOC1):c.932A>T (p.Glu311Val)	LOC126861980, SMOC1 (E311V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 32