ClinVar for Gene (Select 126859714) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066460	NC_000006.12:g.75288632_75374566del	FILIP1, LOC126859714 +1 more	Deletion	NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES	GPathogenic
Select item 2395383	NM_015687.5(FILIP1):c.416T>C (p.Ile139Thr)	FILIP1, LOC126859714 (I142T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370936	NM_015687.5(FILIP1):c.298A>G (p.Met100Val)	FILIP1, LOC126859714 (M103V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288218	NM_015687.5(FILIP1):c.440C>T (p.Pro147Leu)	FILIP1, LOC126859714 (P147L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211521	NM_015687.5(FILIP1):c.373C>T (p.Arg125Trp)	LOC126859714, FILIP1 (R128W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	EEF1A1-AS1, KCNQ5-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic

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