LOC121079957[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, DCP2 +119 more	Copy number loss	See cases	GPathogenic
Select item 2296585	NM_001085377.2(MCC):c.61G>C (p.Gly21Arg)	LOC121079957, MCC (G21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124192	NM_001085377.2(MCC):c.40A>G (p.Ser14Gly)	LOC121079957, MCC (S14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293601	NM_001085377.2(MCC):c.38C>A (p.Ser13Tyr)	LOC121079957, MCC (S13Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293611	NM_001085377.2(MCC):c.35G>C (p.Ser12Thr)	LOC121079957, MCC (S12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance