LOC125078025[gene] - ClinVar - NCBI

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Items: 14

	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 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 3154437	NM_024832.5(RIN3):c.2663A>G (p.Glu888Gly)	LOC125078025, RIN3 (E813G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465105	NM_024832.5(RIN3):c.2749C>T (p.Arg917Trp)	LOC125078025, RIN3 (R842W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398762	NM_024832.5(RIN3):c.2785G>C (p.Gly929Arg)	LOC125078025, RIN3 (G929R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481957	NM_024832.5(RIN3):c.2792G>A (p.Cys931Tyr)	LOC125078025, RIN3 (C856Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470905	NM_024832.5(RIN3):c.2819C>T (p.Pro940Leu)	LOC125078025, RIN3 (P865L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310621	NM_024832.5(RIN3):c.2848A>C (p.Ser950Arg)	LOC125078025, RIN3 (S950R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance