FAM43A[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 2215903	NM_153690.5(FAM43A):c.40G>C (p.Glu14Gln)	FAM43A (E14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092418	NM_153690.5(FAM43A):c.52C>G (p.Arg18Gly)	FAM43A (R18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092417	NM_153690.5(FAM43A):c.116C>T (p.Ala39Val)	FAM43A (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260900	NM_153690.5(FAM43A):c.132A>T (p.Glu44Asp)	FAM43A (E44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310383	NM_153690.5(FAM43A):c.136G>A (p.Ala46Thr)	FAM43A (A46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319487	NM_153690.5(FAM43A):c.179A>C (p.Lys60Thr)	FAM43A (K60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277430	NM_153690.5(FAM43A):c.205A>G (p.Thr69Ala)	FAM43A (T69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306066	NM_153690.5(FAM43A):c.259G>A (p.Gly87Ser)	FAM43A (G87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277427	NM_153690.5(FAM43A):c.337G>A (p.Val113Met)	FAM43A (V113M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277428	NM_153690.5(FAM43A):c.395G>C (p.Gly132Ala)	FAM43A (G132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309350	NM_153690.5(FAM43A):c.430G>C (p.Val144Leu)	FAM43A (V144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092419	NM_153690.5(FAM43A):c.554C>T (p.Ala185Val)	FAM43A (A185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594785	NM_153690.5(FAM43A):c.581A>G (p.Asn194Ser)	FAM43A (N194S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2278306	NM_153690.5(FAM43A):c.718C>T (p.Pro240Ser)	FAM43A (P240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719089	NM_153690.5(FAM43A):c.747G>T (p.Lys249Asn)	FAM43A (K249N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3092420	NM_153690.5(FAM43A):c.757A>C (p.Ile253Leu)	FAM43A (I253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092421	NM_153690.5(FAM43A):c.814G>A (p.Glu272Lys)	FAM43A (E272K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092422	NM_153690.5(FAM43A):c.842A>T (p.Glu281Val)	FAM43A (E281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270210	NM_153690.5(FAM43A):c.854G>T (p.Arg285Leu)	FAM43A (R285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597538	NM_153690.5(FAM43A):c.880G>C (p.Glu294Gln)	FAM43A (E294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784029	NM_153690.5(FAM43A):c.889G>A (p.Glu297Lys)	FAM43A (E297K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2607432	NM_153690.5(FAM43A):c.976G>A (p.Gly326Arg)	FAM43A, LOC129938214 (G326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654365	NM_153690.5(FAM43A):c.983G>A (p.Gly328Asp)	FAM43A, LOC129938214 (G328D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2554667	NM_153690.5(FAM43A):c.997G>C (p.Gly333Arg)	FAM43A, LOC129938214 (G333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327677	NM_153690.5(FAM43A):c.1007C>T (p.Ala336Val)	FAM43A, LOC129938214 (A336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541698	NM_153690.5(FAM43A):c.1009G>C (p.Gly337Arg)	FAM43A, LOC129938214 (G337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508227	NM_153690.5(FAM43A):c.1031G>A (p.Gly344Asp)	FAM43A, LOC129938214 (G344D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277426	NM_153690.5(FAM43A):c.1104C>G (p.Asp368Glu)	FAM43A, LOC129938214 (D368E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558993	NM_153690.5(FAM43A):c.1163G>A (p.Gly388Asp)	FAM43A, LOC129938214 (G388D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252599	NM_153690.5(FAM43A):c.1193C>G (p.Pro398Arg)	FAM43A, LOC129938214 (P398R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528162	NM_153690.5(FAM43A):c.1232A>G (p.Gln411Arg)	FAM43A (Q411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2580342	GRCh37/hg19 3q29(chr3:193343827-194599635)x1	TMEM44, ATP13A3 +7 more	Copy number loss	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1809441	GRCh37/hg19 3q29(chr3:193396762-195009038)x3	ACAP2, ATP13A3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1527068	GRCh37/hg19 3q29(chr3:192607378-194745252)	ATP13A3, ATP13A4 +11 more	Copy number loss	not specified	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 973038	GRCh37/hg19 3q29(chr3:194161542-194998084)x3	ATP13A3, ACAP2 +4 more	Copy number gain	not provided	Gnot provided
Select item 686188	GRCh37/hg19 3q29(chr3:194363991-194497236)x3	FAM43A, LSG1	Copy number gain	not provided	GUncertain significance
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562863	GRCh37/hg19 3q29(chr3:194388927-194710972)x3	FAM43A, LSG1	Copy number gain	not provided	GUncertain significance
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394725	GRCh37/hg19 3q29(chr3:193952869-194669386)x3	ATP13A3, CPN2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 393718	GRCh37/hg19 3q29(chr3:194310930-194669386)x3	FAM43A, LSG1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 252983	GRCh37/hg19 3q29(chr3:193944478-194483962)x1	ATP13A3, CPN2 +5 more	Copy number loss	See cases	GUncertain significance

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Items: 75