FLOT1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3279235	NM_005803.4(FLOT1):c.1264A>C (p.Lys422Gln)	FLOT1 (K374Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602506	NM_005803.4(FLOT1):c.1255G>T (p.Val419Leu)	FLOT1 (V371L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392462	NM_005803.4(FLOT1):c.1243A>G (p.Ser415Gly)	FLOT1 (S367G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343490	NM_005803.4(FLOT1):c.1048G>A (p.Glu350Lys)	FLOT1 (E302K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614922	NM_005803.4(FLOT1):c.995G>T (p.Arg332Leu)	FLOT1 (R284L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249170	NM_005803.4(FLOT1):c.970G>A (p.Ala324Thr)	FLOT1 (A276T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095677	NM_005803.4(FLOT1):c.903G>T (p.Glu301Asp)	FLOT1 (E301D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321988	NM_005803.4(FLOT1):c.862G>A (p.Glu288Lys)	FLOT1 (E240K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405338	NM_005803.4(FLOT1):c.775G>A (p.Val259Met)	FLOT1 (V211M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095676	NM_005803.4(FLOT1):c.700G>T (p.Ala234Ser)	FLOT1 (A234S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384295	NM_005803.4(FLOT1):c.692G>A (p.Arg231Gln)	FLOT1 (R183Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279233	NM_005803.4(FLOT1):c.689G>A (p.Arg230His)	FLOT1 (R230H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293696	NM_005803.4(FLOT1):c.676G>A (p.Glu226Lys)	FLOT1 (E178K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317544	NM_005803.4(FLOT1):c.668A>G (p.Tyr223Cys)	FLOT1 (Y175C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303112	NM_005803.4(FLOT1):c.634G>T (p.Ala212Ser)	FLOT1 (A164S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570502	NM_005803.4(FLOT1):c.530G>A (p.Arg177Gln)	FLOT1 (R129Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095675	NM_005803.4(FLOT1):c.424A>G (p.Met142Val)	FLOT1 (M142V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362155	NM_005803.4(FLOT1):c.275C>T (p.Thr92Met)	FLOT1 (T92M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279234	NM_005803.4(FLOT1):c.264C>G (p.Phe88Leu)	FLOT1 (F88L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095674	NM_005803.4(FLOT1):c.179G>T (p.Gly60Val)	FLOT1 (G60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223210	NM_005803.4(FLOT1):c.68T>G (p.Met23Arg)	FLOT1 (M23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527143	NM_005803.4(FLOT1):c.50G>A (p.Cys17Tyr)	FLOT1 (C17Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062937	GRCh37/hg19 6p21.33(chr6:30629521-30962674)x3	DDR1, DHX16 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 686641	GRCh37/hg19 6p21.33(chr6:30695007-30767013)x3	FLOT1, IER3	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 221455	GRCh37/hg19 6p21.33(chr6:30698482-30853003)x3	DDR1, FLOT1 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 32