UFL1[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 2511328	NM_015323.5(UFL1):c.26G>C (p.Arg9Thr)	UFL1 (R9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481634	NM_015323.5(UFL1):c.35C>G (p.Ala12Gly)	UFL1 (A12G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337540	NM_015323.5(UFL1):c.106G>A (p.Val36Ile)	UFL1 (V36I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330793	NM_015323.5(UFL1):c.138A>C (p.Glu46Asp)	UFL1 (E46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186022	NM_015323.5(UFL1):c.229G>C (p.Val77Leu)	UFL1 (V77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330799	NM_015323.5(UFL1):c.269T>G (p.Leu90Arg)	UFL1 (L90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600496	NM_015323.5(UFL1):c.305A>G (p.Lys102Arg)	UFL1 (K102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352821	NM_015323.5(UFL1):c.356A>T (p.Tyr119Phe)	UFL1 (Y119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364693	NM_015323.5(UFL1):c.413C>G (p.Thr138Ser)	UFL1 (T138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411093	NM_015323.5(UFL1):c.434C>T (p.Thr145Ile)	UFL1 (T145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330797	NM_015323.5(UFL1):c.536C>T (p.Thr179Met)	UFL1 (T179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186024	NM_015323.5(UFL1):c.547G>A (p.Val183Ile)	UFL1 (V183I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301011	NM_015323.5(UFL1):c.571C>T (p.Arg191Cys)	UFL1 (R191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214834	NM_015323.5(UFL1):c.682G>A (p.Gly228Arg)	UFL1 (G228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232930	NM_015323.5(UFL1):c.746A>G (p.Tyr249Cys)	UFL1 (Y249C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393380	NM_015323.5(UFL1):c.810T>G (p.Asp270Glu)	UFL1 (D270E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186025	NM_015323.5(UFL1):c.881T>C (p.Leu294Ser)	UFL1 (L294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489847	NM_015323.5(UFL1):c.887T>G (p.Leu296Trp)	UFL1 (L296W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186026	NM_015323.5(UFL1):c.899G>A (p.Cys300Tyr)	UFL1 (C300Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465854	NM_015323.5(UFL1):c.942A>C (p.Glu314Asp)	UFL1 (E314D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623830	NM_015323.5(UFL1):c.958G>A (p.Gly320Arg)	UFL1 (G320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406440	NM_015323.5(UFL1):c.1008A>C (p.Glu336Asp)	UFL1 (E336D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549402	NM_015323.5(UFL1):c.1057G>T (p.Ala353Ser)	UFL1 (A353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371649	NM_015323.5(UFL1):c.1103T>G (p.Phe368Cys)	UFL1 (F368C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186012	NM_015323.5(UFL1):c.1129C>T (p.Arg377Cys)	UFL1 (R377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373805	NM_015323.5(UFL1):c.1175C>T (p.Pro392Leu)	UFL1 (P392L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186013	NM_015323.5(UFL1):c.1178T>C (p.Val393Ala)	UFL1 (V393A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186014	NM_015323.5(UFL1):c.1209A>T (p.Gln403His)	UFL1 (Q403H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342751	NM_015323.5(UFL1):c.1228G>C (p.Val410Leu)	UFL1 (V410L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257027	NM_015323.5(UFL1):c.1244A>C (p.Lys415Thr)	UFL1 (K415T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396735	NM_015323.5(UFL1):c.1262G>A (p.Arg421Gln)	UFL1 (R421Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330791	NM_015323.5(UFL1):c.1294A>G (p.Met432Val)	UFL1 (M432V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3330795	NM_015323.5(UFL1):c.1298G>A (p.Arg433Lys)	UFL1 (R433K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186015	NM_015323.5(UFL1):c.1355G>A (p.Gly452Glu)	UFL1 (G452E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588639	NM_015323.5(UFL1):c.1490T>G (p.Phe497Cys)	UFL1 (F497C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713073	NM_015323.5(UFL1):c.1496C>T (p.Ser499Leu)	UFL1 (S499L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 735717	NM_015323.5(UFL1):c.1497G>A (p.Ser499=)	UFL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2615930	NM_015323.5(UFL1):c.1540C>T (p.Leu514Phe)	UFL1 (L514F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284680	NM_015323.5(UFL1):c.1540C>G (p.Leu514Val)	UFL1 (L514V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330792	NM_015323.5(UFL1):c.1595G>T (p.Gly532Val)	UFL1 (G532V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186016	NM_015323.5(UFL1):c.1661T>C (p.Phe554Ser)	UFL1 (F554S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330800	NM_015323.5(UFL1):c.1672A>G (p.Met558Val)	UFL1 (M558V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330794	NM_015323.5(UFL1):c.1712A>G (p.Lys571Arg)	UFL1 (K571R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605629	NM_015323.5(UFL1):c.1886C>G (p.Ser629Cys)	UFL1 (S629C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186017	NM_015323.5(UFL1):c.1891A>G (p.Asn631Asp)	UFL1 (N631D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186018	NM_015323.5(UFL1):c.1906G>A (p.Glu636Lys)	UFL1 (E636K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361175	NM_015323.5(UFL1):c.1908A>C (p.Glu636Asp)	UFL1 (E636D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330796	NM_015323.5(UFL1):c.1940A>G (p.Glu647Gly)	UFL1 (E647G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713153	NM_015323.5(UFL1):c.1993C>G (p.Leu665Val)	UFL1 (L665V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 981816	NM_015323.5(UFL1):c.2114C>G (p.Pro705Arg)	UFL1 (P705R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 2331684	NM_015323.5(UFL1):c.2168A>G (p.Asp723Gly)	UFL1 (D723G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186020	NM_015323.5(UFL1):c.2173C>T (p.His725Tyr)	UFL1 (H725Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186021	NM_015323.5(UFL1):c.2246G>A (p.Gly749Glu)	UFL1 (G749E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186023	NM_015323.5(UFL1):c.2319A>C (p.Gln773His)	UFL1 (Q773H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462281	NM_015323.5(UFL1):c.2375C>T (p.Thr792Met)	UFL1 (T792M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527268	GRCh37/hg19 6q16.1(chr6:96930503-97358358)	FHL5, GPR63 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1340374	GRCh37/hg19 6q16.1(chr6:96890318-97173199)x1	FHL5, UFL1	Copy number loss	not provided	GUncertain significance
Select item 974789	GRCh37/hg19 6q16.1(chr6:96028232-97247130)x1	MANEA, UFL1 +3 more	Copy number loss	Microcephaly +1 more	GLikely pathogenic
Select item 685481	GRCh37/hg19 6q16.1(chr6:96925561-97358357)x3	FHL5, GPR63 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563208	GRCh37/hg19 6q16.1(chr6:96930503-97358358)x3	UFL1, GPR63 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563207	GRCh37/hg19 6q16.1(chr6:96890317-97173081)x1	FHL5, UFL1	Copy number loss	not provided	GUncertain significance
Select item 563206	GRCh37/hg19 6q16.1(chr6:96707644-97112587)x1	FHL5, UFL1	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 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 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic

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Items: 77