ClinVar for Gene (Select 23240) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2655136	NM_001131007.2(TMEM131L):c.3993C>T (p.Ser1331=)	TMEM131L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655135	NM_001131007.2(TMEM131L):c.2154C>T (p.Gly718=)	TMEM131L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609316	NM_001131007.2(TMEM131L):c.2253G>A (p.Met751Ile)	TMEM131L (M750I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605603	NM_001131007.2(TMEM131L):c.573A>C (p.Arg191Ser)	TMEM131L (R191S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603721	NM_001131007.2(TMEM131L):c.4679C>A (p.Thr1560Asn)	TMEM131L (T1559N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597029	NM_001131007.2(TMEM131L):c.1798C>G (p.Leu600Val)	TMEM131L (L600V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592647	NM_001131007.2(TMEM131L):c.2908G>A (p.Ala970Thr)	TMEM131L (A969T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590480	NM_001131007.2(TMEM131L):c.3958C>T (p.Arg1320Trp)	TMEM131L (R1320W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590277	NM_001131007.2(TMEM131L):c.569G>A (p.Arg190His)	TMEM131L (R190H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566646	NM_001131007.2(TMEM131L):c.2147T>C (p.Met716Thr)	TMEM131L (M715T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555496	NM_001131007.2(TMEM131L):c.2135C>A (p.Thr712Asn)	TMEM131L (T711N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537886	NM_001131007.2(TMEM131L):c.3165T>G (p.Asn1055Lys)	TMEM131L (N1055K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535113	NM_001131007.2(TMEM131L):c.974G>C (p.Arg325Thr)	TMEM131L (R325T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526471	NM_001131007.2(TMEM131L):c.2814T>A (p.Asp938Glu)	TMEM131L (D937E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524643	NM_001131007.2(TMEM131L):c.4516A>G (p.Met1506Val)	TMEM131L (M1505V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2516196	NM_001131007.2(TMEM131L):c.2029C>G (p.Leu677Val)	TMEM131L (L677V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516162	NM_001131007.2(TMEM131L):c.17G>A (p.Arg6His)	TMEM131L (R6H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510983	NM_001131007.2(TMEM131L):c.3623A>C (p.Gln1208Pro)	TMEM131L (Q1207P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491952	NM_001131007.2(TMEM131L):c.578C>T (p.Ser193Phe)	TMEM131L (S193F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491456	NM_001131007.2(TMEM131L):c.3959G>A (p.Arg1320Gln)	TMEM131L (R1319Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487534	NM_001131007.2(TMEM131L):c.1940A>G (p.Gln647Arg)	TMEM131L (Q647R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484900	NM_001131007.2(TMEM131L):c.1444T>C (p.Phe482Leu)	TMEM131L (F482L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479778	NM_001131007.2(TMEM131L):c.3941G>T (p.Gly1314Val)	TMEM131L (G1313V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477188	NM_001131007.2(TMEM131L):c.3613G>A (p.Gly1205Arg)	TMEM131L (G1204R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475791	NM_001131007.2(TMEM131L):c.3725G>A (p.Cys1242Tyr)	TMEM131L (C1242Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475065	NM_001131007.2(TMEM131L):c.1972C>G (p.Leu658Val)	TMEM131L (L657V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475064	NM_001131007.2(TMEM131L):c.1961G>T (p.Gly654Val)	TMEM131L (G653V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474669	NM_001131007.2(TMEM131L):c.1935T>G (p.Asp645Glu)	TMEM131L (D645E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469884	NM_001131007.2(TMEM131L):c.125C>T (p.Ala42Val)	TMEM131L (A42V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469730	NM_001131007.2(TMEM131L):c.4444C>T (p.Pro1482Ser)	TMEM131L (P1481S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460426	NM_001131007.2(TMEM131L):c.2695A>G (p.Met899Val)	TMEM131L (M899V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455947	NM_001131007.2(TMEM131L):c.1759G>T (p.Ala587Ser)	TMEM131L (A586S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455531	NM_001131007.2(TMEM131L):c.4697C>T (p.Ala1566Val)	TMEM131L (A1565V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980699	GRCh37/hg19 4q31.3(chr4:154306552-154914180)x3	TLR2, MND1 +3 more	Copy number gain	not provided	GLikely benign
Select item 814616	GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1	PLRG1, CTSO +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 790556	NM_001131007.2(TMEM131L):c.3764A>G (p.Asn1255Ser)	TMEM131L (N1254S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790555	NM_001131007.2(TMEM131L):c.3282A>C (p.Ser1094=)	TMEM131L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 684516	Single allele	DCHS2, MND1 +5 more	Duplication	not provided	Gnot provided
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442937	GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1	ARFIP1, ASIC5 +36 more	Copy number loss	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	FSTL5, GALNT7 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic
Select item 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	ARFIP1, DCHS2 +115 more	Copy number gain	See cases	GLikely pathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	NDUFC1, NEIL3 +1051 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807228, LOC126807229 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993256, LOC129993257 +1068 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	AADAT, ABCE1 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	AADAT, ANP32C +481 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 64