ClinVar for Gene (Select 55314) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326804	NM_018342.5(TMEM144):c.842G>A (p.Cys281Tyr)	TMEM144 (C281Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178835	NM_018342.5(TMEM144):c.845G>T (p.Trp282Leu)	TMEM144 (W282L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178834	NM_018342.5(TMEM144):c.817G>A (p.Val273Ile)	TMEM144 (V273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178833	NM_018342.5(TMEM144):c.7A>G (p.Asn3Asp)	TMEM144 (N3D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178831	NM_018342.5(TMEM144):c.689A>C (p.Asp230Ala)	TMEM144 (D230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178830	NM_018342.5(TMEM144):c.661T>A (p.Tyr221Asn)	TMEM144 (Y221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178828	NM_018342.5(TMEM144):c.374C>T (p.Pro125Leu)	TMEM144 (P125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178827	NM_018342.5(TMEM144):c.200T>C (p.Phe67Ser)	TMEM144 (F67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178826	NM_018342.5(TMEM144):c.127G>A (p.Val43Ile)	TMEM144 (V43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062776	GRCh37/hg19 4q32.1(chr4:158835348-160065395)x1	C4orf46, ETFDH +6 more	Copy number loss	not specified	GUncertain significance
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	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2619478	NM_018342.5(TMEM144):c.75T>G (p.Asn25Lys)	TMEM144 (N25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618220	NM_018342.5(TMEM144):c.367T>A (p.Ser123Thr)	TMEM144 (S123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614227	NM_018342.5(TMEM144):c.503A>G (p.Asn168Ser)	TMEM144 (N168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593372	NM_018342.5(TMEM144):c.745G>A (p.Ala249Thr)	TMEM144 (A249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589199	NM_018342.5(TMEM144):c.460T>G (p.Cys154Gly)	TMEM144 (C154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559469	NM_018342.5(TMEM144):c.673A>G (p.Ser225Gly)	TMEM144 (S225G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496390	NM_018342.5(TMEM144):c.244G>A (p.Val82Ile)	TMEM144 (V82I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474467	NM_018342.5(TMEM144):c.757G>A (p.Ala253Thr)	TMEM144 (A253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368039	NM_018342.5(TMEM144):c.614T>G (p.Val205Gly)	TMEM144 (V205G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320274	NM_018342.5(TMEM144):c.473C>T (p.Thr158Ile)	TMEM144 (T158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313944	NM_018342.5(TMEM144):c.985G>A (p.Ala329Thr)	TMEM144 (A329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303988	NM_018342.5(TMEM144):c.701C>T (p.Ala234Val)	TMEM144 (A234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301707	NM_018342.5(TMEM144):c.380T>C (p.Leu127Pro)	TMEM144 (L127P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274293	NM_018342.5(TMEM144):c.346G>A (p.Gly116Arg)	TMEM144 (G116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237303	NM_018342.5(TMEM144):c.502A>G (p.Asn168Asp)	TMEM144 (N168D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808169	GRCh37/hg19 4q32.1(chr4:158682606-159762612)x3	C4orf46, ETFDH +5 more	Copy number gain	not provided	GUncertain significance
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1340325	GRCh37/hg19 4q32.1(chr4:159101199-159197057)x1	TMEM144	Copy number loss	not provided	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 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	GPathogenic
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 685090	GRCh37/hg19 4q32.1-32.2(chr4:158177478-163328854)x1	GRIA2, PPID +9 more	Copy number loss	not provided	GUncertain significance
Select item 562987	GRCh37/hg19 4q32.1(chr4:158857134-159344475)x3	TMEM144, GASK1B	Copy number gain	not provided	GLikely benign
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	AADAT, ADAM29 +60 more	Copy number gain	not provided	GPathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
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	CFAP97, CFI +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	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253927	GRCh37/hg19 4q32.1(chr4:159047068-159600690)x3	C4orf46, ETFDH +3 more	Copy number gain	See cases	GUncertain significance
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic
Select item 155554	GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3	LOC112939921, LOC121725192 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 152866	GRCh38/hg38 4q32.1(chr4:157629491-158280863)x1	GASK1B, GASK1B-AS1 +8 more	Copy number loss	See cases	GUncertain significance
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +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 58047	GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3	C4orf46, ETFDH +56 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 63