Related gene-specific medical variations for Gene (Select 10584) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268883	NM_006438.5(COLEC10):c.49G>C (p.Val17Leu)	COLEC10, LOC101927513 +1 more (V17L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3147843	NM_006438.5(COLEC10):c.121A>G (p.Thr41Ala)	COLEC10, LOC101927513 +1 more (T41A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147842	NM_006438.5(COLEC10):c.110A>C (p.Glu37Ala)	COLEC10, LOC101927513 +1 more (E37A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065389	NM_006438.5(COLEC10):c.310G>A (p.Gly104Ser)	COLEC10 (G104S +1 more)	Single nucleotide variant (missense variant)	3MC syndrome 3	GUncertain significance
Select item 2535984	NM_006438.5(COLEC10):c.73A>G (p.Ser25Gly)	COLEC10, LOC101927513 +1 more (S25G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258879	NM_006438.5(COLEC10):c.106G>A (p.Ala36Thr)	COLEC10, LOC101927513 +1 more (A36T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 992663	NM_006438.5(COLEC10):c.128_129del (p.Thr43fs)	COLEC10, LOC101927513 +1 more (T43fs)	Microsatellite (frameshift variant +1 more)	3MC syndrome 3	GPathogenic
Select item 815161	GRCh37/hg19 8q24.12(chr8:120033380-120142448)x1	COLEC10	Copy number loss	not provided	GUncertain significance
Select item 417733	NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter)	COLEC10, LOC101927513 +1 more (R9*)	Single nucleotide variant (nonsense +1 more)	See cases	GPathogenic