ClinVar for Gene (Select 101928540) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278889	NM_015687.5(FILIP1):c.242T>A (p.Ile81Asn)	FILIP1, LOC101928540 (I81N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278886	NM_015687.5(FILIP1):c.200G>C (p.Arg67Pro)	FILIP1, LOC101928540 (R70P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095234	NM_015687.5(FILIP1):c.73G>A (p.Gly25Ser)	FILIP1, LOC101928540 (G25S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3066461	NM_015687.5(FILIP1):c.169C>T (p.Arg57Ter)	FILIP1, LOC101928540 (R57* +1 more)	Single nucleotide variant (nonsense)	Neuromuscular disorder, congenital, with dysmorphic facies	GPathogenic
Select item 2537175	NM_015687.5(FILIP1):c.31G>A (p.Ala11Thr)	FILIP1, LOC101928540 (A11T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404437	NM_015687.5(FILIP1):c.131G>A (p.Arg44Lys)	FILIP1, LOC101928540 (R47K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370935	NM_015687.5(FILIP1):c.169C>G (p.Arg57Gly)	FILIP1, LOC101928540 (R57G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340539	NM_015687.5(FILIP1):c.164T>A (p.Val55Asp)	FILIP1, LOC101928540 (V55D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283060	NM_015687.5(FILIP1):c.157G>C (p.Gly53Arg)	FILIP1, LOC101928540 (G53R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic