LOC107882126[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
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 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 881586	NM_000359.3(TGM1):c.1A>G (p.Met1Val)	LOC107882126, TGM1 (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 2679186	NM_000359.3(TGM1):c.-2-1G>C	LOC107882126, TGM1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 558650	NM_000359.3(TGM1):c.-2-1G>A	TGM1, LOC107882126	Single nucleotide variant (splice acceptor variant)	Autosomal recessive congenital ichthyosis 1	GLikely pathogenic
Select item 312998	NM_000359.3(TGM1):c.-24C>T	LOC107882126, TGM1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 312999	NM_000359.3(TGM1):c.-42C>T	LOC107882126, TGM1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 989715	NM_000359.3(TGM1):c.-181G>A	LOC107882126, TGM1	Single nucleotide variant	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 1170827	NC_000014.9:g.24263268G>A	LOC107882126, TGM1	Single nucleotide variant	not provided	GBenign
Select item 989716	NM_000359.3(TGM1):c.-183_-182insT	TGM1, LOC107882126	Insertion	Autosomal recessive congenital ichthyosis 1	GUncertain significance
Select item 3150924	NM_182836.3(RABGGTA):c.1657G>A (p.Glu553Lys)	LOC107882126, RABGGTA (E553K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance