ClinVar for Gene (Select 93109) - ClinVar

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Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327112	NM_001011655.3(TMEM44):c.665C>A (p.Ala222Asp)	TMEM44 (A269D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327111	NM_001011655.3(TMEM44):c.921T>A (p.Asp307Glu)	TMEM44 (D307E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179504	NM_001011655.3(TMEM44):c.812G>A (p.Ser271Asn)	TMEM44 (S271N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179503	NM_001011655.3(TMEM44):c.719A>G (p.Glu240Gly)	TMEM44 (E287G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179502	NM_001011655.3(TMEM44):c.82A>C (p.Ile28Leu)	TMEM44, TMEM44-AS2 (I28L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3179501	NM_001011655.3(TMEM44):c.653G>A (p.Arg218Gln)	TMEM44 (R265Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179500	NM_001011655.3(TMEM44):c.617G>A (p.Arg206Gln)	TMEM44 (R253Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3179499	NM_001011655.3(TMEM44):c.71A>G (p.His24Arg)	TMEM44, TMEM44-AS2 (H24R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3179498	NM_001011655.3(TMEM44):c.499C>T (p.Arg167Trp)	TMEM44 (R167W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179497	NM_001011655.3(TMEM44):c.487C>G (p.Arg163Gly)	TMEM44 (R163G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179496	NM_001011655.3(TMEM44):c.405T>G (p.Ser135Arg)	TMEM44 (S135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179495	NM_001011655.3(TMEM44):c.404G>C (p.Ser135Thr)	TMEM44 (S135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179494	NM_001011655.3(TMEM44):c.388C>T (p.Arg130Trp)	TMEM44 (R130W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179493	NM_001011655.3(TMEM44):c.325C>T (p.Pro109Ser)	TMEM44 (P109S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179492	NM_001011655.3(TMEM44):c.325C>G (p.Pro109Ala)	TMEM44 (P109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179491	NM_001011655.3(TMEM44):c.182C>T (p.Ser61Leu)	TMEM44 (S61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179490	NM_001011655.3(TMEM44):c.1264G>A (p.Ala422Thr)	TMEM44, TMEM44-AS1 (A432T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179489	NM_001011655.3(TMEM44):c.1118G>A (p.Arg373Gln)	TMEM44 (R373Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179488	NM_001011655.3(TMEM44):c.1094C>G (p.Ser365Trp)	TMEM44 (S412W +2 more)	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 2621997	NM_001011655.3(TMEM44):c.878T>C (p.Leu293Ser)	TMEM44 (L340S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613026	NM_001011655.3(TMEM44):c.7G>A (p.Glu3Lys)	LOC129938210, TMEM44 +1 more (E3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612583	NM_001011655.3(TMEM44):c.1169A>T (p.Asp390Val)	TMEM44 (D390V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611469	NM_001011655.3(TMEM44):c.575G>A (p.Gly192Asp)	TMEM44 (G192D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2559850	NM_001011655.3(TMEM44):c.767C>T (p.Ala256Val)	TMEM44 (A256V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543855	NM_001011655.3(TMEM44):c.1105G>A (p.Val369Ile)	TMEM44 (V369I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534686	NM_001011655.3(TMEM44):c.37G>A (p.Asp13Asn)	TMEM44, TMEM44-AS2 (D13N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534685	NM_001011655.3(TMEM44):c.106G>T (p.Ala36Ser)	TMEM44, TMEM44-AS2 (A36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530104	NM_001011655.3(TMEM44):c.1126G>T (p.Val376Leu)	TMEM44 (V376L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512724	NM_001011655.3(TMEM44):c.406G>A (p.Val136Met)	TMEM44 (V136M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508014	NM_001011655.3(TMEM44):c.961A>G (p.Arg321Gly)	TMEM44 (R321G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474094	NM_001011655.3(TMEM44):c.709C>A (p.Gln237Lys)	TMEM44 (Q237K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472337	NM_001011655.3(TMEM44):c.764G>A (p.Arg255His)	TMEM44 (R255H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467003	NM_001011655.3(TMEM44):c.797C>T (p.Ser266Leu)	TMEM44 (S266L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460370	NM_001011655.3(TMEM44):c.232G>A (p.Gly78Arg)	TMEM44 (G78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397362	NM_001011655.3(TMEM44):c.476C>T (p.Ser159Leu)	TMEM44 (S159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395367	NM_001011655.3(TMEM44):c.548A>G (p.Tyr183Cys)	TMEM44 (Y183C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392631	NM_001011655.3(TMEM44):c.440C>T (p.Pro147Leu)	TMEM44 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379542	NM_001011655.3(TMEM44):c.760G>A (p.Gly254Ser)	TMEM44 (G301S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353855	NM_001011655.3(TMEM44):c.1091C>T (p.Pro364Leu)	TMEM44 (P364L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343392	NM_001011655.3(TMEM44):c.1072G>C (p.Ala358Pro)	TMEM44 (A405P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339255	NM_001011655.3(TMEM44):c.1124G>A (p.Arg375Gln)	TMEM44 (G374R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2323906	NM_001011655.3(TMEM44):c.757C>T (p.Leu253Phe)	TMEM44 (L253F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236334	NM_001011655.3(TMEM44):c.1160T>C (p.Ile387Thr)	TMEM44 (I387T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216850	NM_001011655.3(TMEM44):c.38A>C (p.Asp13Ala)	TMEM44, TMEM44-AS2 (D13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
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
Select item 221436	GRCh37/hg19 3q29(chr3:193333511-194338436)x3	ATP13A3, CPN2 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 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 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 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 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 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 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 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 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 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	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 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	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 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 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 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	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

ClinVar

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Links from Gene

Items: 87